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Abnormal Fetal lie, Malpresentation and Malposition

Original Author(s): Anna Mcclune Last updated: 1st December 2018 Revisions: 12

• 1 Definitions
• 2 Risk Factors
• 3.2 Presentation
• 3.3 Position
• 4 Investigations
• 5.1 Abnormal Fetal Lie
• 5.2 Malpresentation
• 5.3 Malposition

The lie, presentation and position of a fetus are important during labour and delivery.

In this article, we will look at the risk factors, examination and management of abnormal fetal lie, malpresentation and malposition.

Definitions

• Longitudinal, transverse or oblique
• Cephalic vertex presentation is the most common and is considered the safest
• Other presentations include breech, shoulder, face and brow
• Usually the fetal head engages in the occipito-anterior position (the fetal occiput facing anteriorly) – this is ideal for birth
• Other positions include occipito-posterior and occipito-transverse.

Note: Breech presentation is the most common malpresentation, and is covered in detail here .

Fig 1 – The two most common fetal presentations: cephalic and breech.

Risk Factors

The risk factors for abnormal fetal lie, malpresentation and malposition include:

• Multiple pregnancy
• Uterine abnormalities (e.g fibroids, partial septate uterus)
• Fetal abnormalities
• Placenta praevia
• Primiparity

Identifying Fetal Lie, Presentation and Position

The fetal lie and presentation can usually be identified via abdominal examination. The fetal position is ascertained by vaginal examination.

For more information on the obstetric examination, see here .

• Face the patient’s head
• Place your hands on either side of the uterus and gently apply pressure; one side will feel fuller and firmer – this is the back, and fetal limbs may feel ‘knobbly’ on the opposite side

Presentation

• Palpate the lower uterus (above the symphysis pubis) with the fingers of both hands; the head feels hard and round (cephalic) and the bottom feels soft and triangular (breech)
• You may be able to gently push the fetal head from side to side

The fetal lie and presentation may not be possible to identify if the mother has a high BMI, if she has not emptied her bladder, if the fetus is small or if there is polyhydramnios .

During labour, vaginal examination is used to assess the position of the fetal head (in a cephalic vertex presentation). The landmarks of the fetal head, including the anterior and posterior fontanelles, indicate the position.

Fig 2 – Assessing fetal lie and presentation.

Investigations

Any suspected abnormal fetal lie or malpresentation should be confirmed by an ultrasound scan . This could also demonstrate predisposing uterine or fetal abnormalities.

Abnormal Fetal Lie

If the fetal lie is abnormal, an external cephalic version (ECV) can be attempted – ideally between 36 and 38 weeks gestation.

ECV is the manipulation of the fetus to a cephalic presentation through the maternal abdomen.

It has an approximate success rate of 50% in primiparous women and 60% in multiparous women. Only 8% of breech presentations will spontaneously revert to cephalic in primiparous women over 36 weeks gestation.

Complications of ECV are rare but include fetal distress , premature rupture of membranes, antepartum haemorrhage (APH) and placental abruption. The risk of an emergency caesarean section (C-section) within 24 hours is around 1 in 200.

ECV is contraindicated in women with a recent APH, ruptured membranes, uterine abnormalities or a previous C-section .

Fig 3 – External cephalic version.

Malpresentation

The management of malpresentation is dependent on the presentation.

• Breech – attempt ECV before labour, vaginal breech delivery or C-section
• Brow – a C-section is necessary
• If the chin is anterior (mento-anterior) a normal labour is possible; however, it is likely to be prolonged and there is an increased risk of a C-section being required
• If the chin is posterior (mento-posterior) then a C-section is necessary
• Shoulder – a C-section is necessary

Malposition

90% of malpositions spontaneously rotate to occipito-anterior as labour progresses. If the fetal head does not rotate, rotation and operative vaginal delivery can be attempted. Alternatively a C-section can be performed.

• Usually the fetal head engages in the occipito-anterior position (the fetal occiput facing anteriorly) - this is ideal for birth

If the fetal lie is abnormal, an external cephalic version (ECV) can be attempted - ideally between 36 and 38 weeks gestation.

• Breech - attempt ECV before labour, vaginal breech delivery or C-section

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Fetal Presentation, Position, and Lie (Including Breech Presentation)

• Key Points |

Abnormal fetal lie or presentation may occur due to fetal size, fetal anomalies, uterine structural abnormalities, multiple gestation, or other factors. Diagnosis is by examination or ultrasonography. Management is with physical maneuvers to reposition the fetus, operative vaginal delivery , or cesarean delivery .

Terms that describe the fetus in relation to the uterus, cervix, and maternal pelvis are

Fetal presentation: Fetal part that overlies the maternal pelvic inlet; vertex (cephalic), face, brow, breech, shoulder, funic (umbilical cord), or compound (more than one part, eg, shoulder and hand)

Fetal position: Relation of the presenting part to an anatomic axis; for vertex presentation, occiput anterior, occiput posterior, occiput transverse

Fetal lie: Relation of the fetus to the long axis of the uterus; longitudinal, oblique, or transverse

Normal fetal lie is longitudinal, normal presentation is vertex, and occiput anterior is the most common position.

Abnormal fetal lie, presentation, or position may occur with

Fetopelvic disproportion (fetus too large for the pelvic inlet)

Fetal congenital anomalies

Uterine structural abnormalities (eg, fibroids, synechiae)

Multiple gestation

Several common types of abnormal lie or presentation are discussed here.

Transverse lie

Fetal position is transverse, with the fetal long axis oblique or perpendicular rather than parallel to the maternal long axis. Transverse lie is often accompanied by shoulder presentation, which requires cesarean delivery.

Breech presentation

There are several types of breech presentation.

Frank breech: The fetal hips are flexed, and the knees extended (pike position).

Complete breech: The fetus seems to be sitting with hips and knees flexed.

Single or double footling presentation: One or both legs are completely extended and present before the buttocks.

Types of breech presentations

Breech presentation makes delivery difficult ,primarily because the presenting part is a poor dilating wedge. Having a poor dilating wedge can lead to incomplete cervical dilation, because the presenting part is narrower than the head that follows. The head, which is the part with the largest diameter, can then be trapped during delivery.

Additionally, the trapped fetal head can compress the umbilical cord if the fetal umbilicus is visible at the introitus, particularly in primiparas whose pelvic tissues have not been dilated by previous deliveries. Umbilical cord compression may cause fetal hypoxemia.

Predisposing factors for breech presentation include

Preterm labor

Uterine abnormalities

Fetal anomalies

If delivery is vaginal, breech presentation may increase risk of

Umbilical cord prolapse

Birth trauma

Perinatal death

Face or brow presentation

In face presentation, the head is hyperextended, and position is designated by the position of the chin (mentum). When the chin is posterior, the head is less likely to rotate and less likely to deliver vaginally, necessitating cesarean delivery.

Brow presentation usually converts spontaneously to vertex or face presentation.

Occiput posterior position

The most common abnormal position is occiput posterior.

The fetal neck is usually somewhat deflexed; thus, a larger diameter of the head must pass through the pelvis.

Progress may arrest in the second phase of labor. Operative vaginal delivery or cesarean delivery is often required.

Position and Presentation of the Fetus

If a fetus is in the occiput posterior position, operative vaginal delivery or cesarean delivery is often required.

In breech presentation, the presenting part is a poor dilating wedge, which can cause the head to be trapped during delivery, often compressing the umbilical cord.

For breech presentation, usually do cesarean delivery at 39 weeks or during labor, but external cephalic version is sometimes successful before labor, usually at 37 or 38 weeks.

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• Fetal presentation before birth

The way a baby is positioned in the uterus just before birth can have a big effect on labor and delivery. This positioning is called fetal presentation.

Babies twist, stretch and tumble quite a bit during pregnancy. Before labor starts, however, they usually come to rest in a way that allows them to be delivered through the birth canal headfirst. This position is called cephalic presentation. But there are other ways a baby may settle just before labor begins.

Following are some of the possible ways a baby may be positioned at the end of pregnancy.

Head down, face down

When a baby is head down, face down, the medical term for it is the cephalic occiput anterior position. This the most common position for a baby to be born in. With the face down and turned slightly to the side, the smallest part of the baby's head leads the way through the birth canal. It is the easiest way for a baby to be born.

Head down, face up

When a baby is head down, face up, the medical term for it is the cephalic occiput posterior position. In this position, it might be harder for a baby's head to go under the pubic bone during delivery. That can make labor take longer.

Most babies who begin labor in this position eventually turn to be face down. If that doesn't happen, and the second stage of labor is taking a long time, a member of the health care team may reach through the vagina to help the baby turn. This is called manual rotation.

In some cases, a baby can be born in the head-down, face-up position. Use of forceps or a vacuum device to help with delivery is more common when a baby is in this position than in the head-down, face-down position. In some cases, a C-section delivery may be needed.

Frank breech

When a baby's feet or buttocks are in place to come out first during birth, it's called a breech presentation. This happens in about 3% to 4% of babies close to the time of birth. The baby shown below is in a frank breech presentation. That's when the knees aren't bent, and the feet are close to the baby's head. This is the most common type of breech presentation.

If you are more than 36 weeks into your pregnancy and your baby is in a frank breech presentation, your health care professional may try to move the baby into a head-down position. This is done using a procedure called external cephalic version. It involves one or two members of the health care team putting pressure on your belly with their hands to get the baby to roll into a head-down position.

If the procedure isn't successful, or if the baby moves back into a breech position, talk with a member of your health care team about the choices you have for delivery. Most babies in a frank breech position are born by planned C-section.

Complete and incomplete breech

A complete breech presentation, as shown below, is when the baby has both knees bent and both legs pulled close to the body. In an incomplete breech, one or both of the legs are not pulled close to the body, and one or both of the feet or knees are below the baby's buttocks. If a baby is in either of these positions, you might feel kicking in the lower part of your belly.

If you are more than 36 weeks into your pregnancy and your baby is in a complete or incomplete breech presentation, your health care professional may try to move the baby into a head-down position. This is done using a procedure called external cephalic version. It involves one or two members of the health care team putting pressure on your belly with their hands to get the baby to roll into a head-down position.

If the procedure isn't successful, or if the baby moves back into a breech position, talk with a member of your health care team about the choices you have for delivery. Many babies in a complete or incomplete breech position are born by planned C-section.

When a baby is sideways — lying horizontal across the uterus, rather than vertical — it's called a transverse lie. In this position, the baby's back might be:

• Down, with the back facing the birth canal.
• Sideways, with one shoulder pointing toward the birth canal.
• Up, with the hands and feet facing the birth canal.

Although many babies are sideways early in pregnancy, few stay this way when labor begins.

If your baby is in a transverse lie during week 37 of your pregnancy, your health care professional may try to move the baby into a head-down position. This is done using a procedure called external cephalic version. External cephalic version involves one or two members of your health care team putting pressure on your belly with their hands to get the baby to roll into a head-down position.

If the procedure isn't successful, or if the baby moves back into a transverse lie, talk with a member of your health care team about the choices you have for delivery. Many babies who are in a transverse lie are born by C-section.

If you're pregnant with twins and only the twin that's lower in the uterus is head down, as shown below, your health care provider may first deliver that baby vaginally.

Then, in some cases, your health care team may suggest delivering the second twin in the breech position. Or they may try to move the second twin into a head-down position. This is done using a procedure called external cephalic version. External cephalic version involves one or two members of the health care team putting pressure on your belly with their hands to get the baby to roll into a head-down position.

Your health care team may suggest delivery by C-section for the second twin if:

• An attempt to deliver the baby in the breech position is not successful.
• You do not want to try to have the baby delivered vaginally in the breech position.
• An attempt to move the baby into a head-down position is not successful.
• You do not want to try to move the baby to a head-down position.

In some cases, your health care team may advise that you have both twins delivered by C-section. That might happen if the lower twin is not head down, the second twin has low or high birth weight as compared to the first twin, or if preterm labor starts.

• Landon MB, et al., eds. Normal labor and delivery. In: Gabbe's Obstetrics: Normal and Problem Pregnancies. 8th ed. Elsevier; 2021. https://www.clinicalkey.com. Accessed May 19, 2023.
• Holcroft Argani C, et al. Occiput posterior position. https://www.updtodate.com/contents/search. Accessed May 19, 2023.
• Frequently asked questions: If your baby is breech. American College of Obstetricians and Gynecologists https://www.acog.org/womens-health/faqs/if-your-baby-is-breech. Accessed May 22, 2023.
• Hofmeyr GJ. Overview of breech presentation. https://www.updtodate.com/contents/search. Accessed May 22, 2023.
• Strauss RA, et al. Transverse fetal lie. https://www.updtodate.com/contents/search. Accessed May 22, 2023.
• Chasen ST, et al. Twin pregnancy: Labor and delivery. https://www.updtodate.com/contents/search. Accessed May 22, 2023.
• Cohen R, et al. Is vaginal delivery of a breech second twin safe? A comparison between delivery of vertex and non-vertex second twins. The Journal of Maternal-Fetal & Neonatal Medicine. 2021; doi:10.1080/14767058.2021.2005569.
• Marnach ML (expert opinion). Mayo Clinic. May 31, 2023.

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Malpresentations and malpositions

Peer reviewed by Dr Laurence Knott Last updated by Dr Colin Tidy, MRCGP Last updated 22 Jun 2021

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Professional Reference articles are designed for health professionals to use. They are written by UK doctors and based on research evidence, UK and European Guidelines. You may find one of our  health articles  more useful.

In this article :

Malpresentation, malposition.

Usually the fetal head engages in the occipito-anterior position (more often left occipito-anterior (LOA) rather than right) and then undergoes a short rotation to be directly occipito-anterior in the mid-cavity. Malpositions are abnormal positions of the vertex of the fetal head relative to the maternal pelvis. Malpresentations are all presentations of the fetus other than vertex.

Obstetrics - the pelvis and head

Continue reading below

Predisposing factors to malpresentation include:

Prematurity.

Multiple pregnancy.

Abnormalities of the uterus - eg, fibroids.

Partial septate uterus.

Abnormal fetus.

Placenta praevia.

Primiparity.

Breech presentation

See the separate Breech Presentations article for more detailed discussion.

Breech presentation is the most common malpresentation, with the majority discovered before labour. Breech presentation is much more common in premature labour.

Approximately one third are diagnosed during labour when the fetus can be directly palpated through the cervix.

After 37 weeks, external cephalic version can be attempted whereby an attempt is made to turn the baby manually by manipulating the pregnant mother's abdomen. This reduces the risk of non-cephalic delivery 1 .

Maternal postural techniques have also been tried but there is insufficient evidence to support these 2 .

Many women who have a breech presentation can deliver vaginally. Factors which make this less likely to be successful include 3 :

Hyperextended neck on ultrasound.

High estimated fetal weight (more than 3.8 kg).

Low estimated weight (less than tenth centile).

Footling presentation.

Evidence of antenatal fetal compromise.

Transverse lie 4

When the fetus is positioned with the head on one side of the pelvis and the buttocks in the other (transverse lie), vaginal delivery is impossible.

This requires caesarean section unless it converts or is converted late in pregnancy. The surgeon may be able to rotate the fetus through the wall of the uterus once the abdominal wall has been opened. Otherwise, a transverse uterine incision is needed to gain access to a fetal pole.

Internal podalic version is no longer attempted.

Transverse lie is associated with a risk of cord prolapse of up to 20%.

Occipito-posterior position

This is the most common malposition where the head initially engages normally but then the occiput rotates posteriorly rather than anteriorly. 5.2% of deliveries are persistent occipito-posterior 5 .

The occipito-posterior position results from a poorly flexed vertex. The anterior fontanelle (four radiating sutures) is felt anteriorly. The posterior fontanelle (three radiating sutures) may also be palpable posteriorly.

It may occur because of a flat sacrum, poorly flexed head or weak uterine contractions which may not push the head down into the pelvis with sufficient strength to produce correct rotation.

As occipito-posterior-position pregnancies often result in a long labour, close maternal and fetal monitoring are required. An epidural is often recommended and it is essential that adequate fluids be given to the mother.

The mother may get the urge to push before full dilatation but this must be discouraged. If the head comes into a face-to-pubis position then vaginal delivery is possible as long as there is a reasonable pelvic size. Otherwise, forceps or caesarean section may be required.

Occipito-transverse position

The head initially engages correctly but fails to rotate and remains in a transverse position.

Alternatives for delivery include manual rotation of fetal head using Kielland's forceps, or delivery using vacuum extraction. This is inappropriate if there is any fetal acidosis because of the risk of cerebral haemorrhage.

Therefore, there must be provision for a failure of forceps delivery to be changed immediately to a caesarean. The trial of forceps is therefore often performed in theatre. Some centres prefer to manage by caesarean section without trial of forceps.

Face presentations

Face presents for delivery if there is complete extension of the fetal head.

Face presentation occurs in 1 in 1,000 deliveries 5 .

With adequate pelvic size, and rotation of the head to the mento-anterior position, vaginal delivery should be achieved after a long labour.

Backwards rotation of the head to a mento-posterior position requires a caesarean section.

Brow positions

The fetal head stays between full extension and full flexion so that the biggest diameter (the mento-vertex) presents.

Brow presentation occurs in 0.14% of deliveries 5 .

Brow presentation is usually only diagnosed once labour is well established.

The anterior fontanelle and super orbital ridges are palpable on vaginal examination.

Unless the head flexes, a vaginal delivery is not possible, and a caesarean section is required.

Further reading and references

• Hofmeyr GJ, Kulier R, West HM ; External cephalic version for breech presentation at term. Cochrane Database Syst Rev. 2015 Apr 1;(4):CD000083. doi: 10.1002/14651858.CD000083.pub3.
• Hofmeyr GJ, Kulier R ; Cephalic version by postural management for breech presentation. Cochrane Database Syst Rev. 2012 Oct 17;10:CD000051. doi: 10.1002/14651858.CD000051.pub2.
• Management of Breech Presentation ; Royal College of Obstetricians and Gynaecologists (Mar 2017)
• Szaboova R, Sankaran S, Harding K, et al ; PLD.23 Management of transverse and unstable lie at term. Arch Dis Child Fetal Neonatal Ed. 2014 Jun;99 Suppl 1:A112-3. doi: 10.1136/archdischild-2014-306576.324.
• Gardberg M, Leonova Y, Laakkonen E ; Malpresentations - impact on mode of delivery. Acta Obstet Gynecol Scand. 2011 May;90(5):540-2. doi: 10.1111/j.1600-0412.2011.01105.x.

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Next review due: 21 Jun 2026

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Labour and Delivery Care Module: 8. Abnormal Presentations and Multiple Pregnancies

Study session 8  abnormal presentations and multiple pregnancies, introduction.

In previous study sessions of this module, you have been introduced to the definitions, signs, symptoms and stages of normal labour, and about the ‘normal’ vertex presentation of the fetus during delivery. In this study session, you will learn about the most common abnormal presentations (breech, shoulder, face or brow), their diagnostic criteria and the required actions you need to take to prevent complications developing during labour. Taking prompt action may save the life of the mother and her baby if the delivery becomes obstructed because the baby is in an abnormal presentation. We will also tell you about twin births and the complications that may result if the two babies become ‘locked’ together, preventing either of them from being born.

Learning Outcomes for Study Session 8

After studying this session, you should be able to:

8.1  Define and use correctly all of the key words printed in bold . (SAQs 8.1 and 8.2)

8.2  Describe how you would identify a fetus in the vertex presentation and distinguish this from common malpresentations and malpositions. (SAQs 8.1 and 8.2)

8.3  Describe the causes and complications for the fetus and the mother of fetal malpresentation during full term labour. (SAQ 8.3)

8.4  Describe how you would identify a multiple pregnancy and the complications that may arise. (SAQ 8.4)

8.5  Explain when and how you would refer a woman in labour due to abnormal fetal presentation or multiple pregnancy. (SAQ 8.4)

8.1  Normal and abnormal presentations

8.1.1  vertex presentation.

In about 95% of deliveries, the part of the fetus which arrives first at the mother’s pelvic brim is the highest part of the fetal head, which is called the vertex (Figure 8.1). This presentation is called the vertex presentation . Notice that the baby’s chin is tucked down towards its chest, so that the vertex is the leading part entering the mother’s pelvis. The baby’s head is said to be ‘well-flexed’ in this position.

During early pregnancy, the baby is the other way up — with its bottom pointing down towards the mother’s cervix — which is called the breech presentation . This is because during its early development, the head of the fetus is bigger than its buttocks; so in the majority of cases, the head occupies the widest cavity, i.e. the fundus (rounded top) of the uterus. As the fetus grows larger, the buttocks become bigger than the head and the baby spontaneously reverses its position, so its buttocks occupy the fundus. In short, in early pregnancy, the majority of fetuses are in the breech presentation and later in pregnancy most of them make a spontaneous transition to the vertex presentation.

8.1.2  Malpresentations

You will learn about obstructed labour in Study Session 9.

When the baby presents itself in the mother’s pelvis in any position other than the vertex presentation, this is termed an abnormal presentation, or m alpresentation . The reason for referring to this as ‘abnormal’ is because it is associated with a much higher risk of obstruction and other birth complications than the vertex presentation. The most common types of malpresentation are termed breech, shoulder, face or brow. We will discuss each of these in turn later. Notice that the baby can be ‘head-down’ but in an abnormal presentation, as in face or brow presentations, when the baby’s face or forehead (brow) is the presenting part.

8.1.3  Malposition

Although it may not be so easy for you to identify this, the baby can also be in an abnormal position even when it is in the vertex presentation. In a normal delivery, when the baby’s head has engaged in the mother’s pelvis, the back of the baby’s skull (the occiput ) points towards the front of the mother’s pelvis (the pubic symphysis ), where the two pubic bones are fused together. This orientation of the fetal skull is called the occipito-anterior position (Figure 8.2a). If the occiput (back) of the fetal skull is towards the mother’s back, this occipito-posterior position (Figure 8.2b) is a vertex malposition , because it is more difficult for the baby to be born in this orientation. The good thing is that more than 90% of babies in vertex malpositions undergo rotation to the occipito-anterior position and are delivered normally.

You learned the directional positions: anterior/in front of and posterior/behind or in the back of, in the Antenatal Care Module, Part 1, Study Session 3.

Note that the fetal skull can also be tilted to the left or to the right in either the occipito-anterior or occipito-posterior positions.

8.2  Causes and consequences of malpresentations and malpositions

In the majority of individual cases it may not be possible to identify what caused the baby to be in an abnormal presentation or position during delivery. However, the general conditions that are thought to increase the risk of malpresentation or malposition are listed below:

Multiple pregnancy is the subject of Section 8.7 of this study session. You learned about placenta previa in the Antenatal Care Module, Study Session 21.

• Abnormally increased or decreased amount of amniotic fluid
• A tumour (abnormal tissue growth) in the uterus preventing the spontaneous inversion of the fetus from breech to vertex presentation during late pregnancy
• Abnormal shape of the pelvis
• Laxity (slackness) of muscular layer in the walls of the uterus
• Multiple pregnancy (more than one baby in the uterus)
• Placenta previa (placenta partly or completely covering the cervical opening).

If the baby presents at the dilating cervix in an abnormal presentation or malposition, it will more difficult (and may be impossible) for it to complete the seven cardinal movements that you learned about in Study Sessions 3 and 5. As a result, birth is more difficult and there is an increased risk of complications, including:

You learned about PROM in Study Session 17 of the Antenatal Care Module, Part 2.

• Premature rupture of the fetal membranes (PROM)
• Premature labour
• Slow, erratic, short-lived contractions
• Uncoordinated and extremely painful contractions, with slow or no progress of labour
• Prolonged and obstructed labour, leading to a ruptured uterus (see Study Sessions 9 and 10 of this Module)
• Postpartum haemorrhage (see Study Session 11)
• Fetal and maternal distress, which may lead to the death of the baby and/or the mother.

With these complications in mind, we now turn your attention to the commonest types of malpresentation and how to recognise them.

8.3  Breech presentation

In a b reech presentation , the fetus lies with its buttocks in the lower part of the uterus, and its buttocks and/or the feet are the presenting parts during delivery. Breech presentation occurs on average in 3–4% of deliveries after 34 weeks of pregnancy.

When is the breech position the normal position for the fetus?

During early pregnancy the baby’s bottom points down towards the mother’s cervix, and its head (the largest part of the fetus at this stage of development) occupies the fundus (rounded top) of the uterus, which is the widest part of the uterine cavity.

8.3.1  Causes of breech presentation

You can see a transverse lie in Figure 8.7 later in this study session.

In the majority of cases there is no obvious reason why the fetus should present by the breech at full term. In practice, what is commonly observed is the association of breech presentation at delivery with a transverse lie earlier in the pregnancy, i.e. the fetus lies sideways across the mother’s abdomen, facing a sideways implanted placenta. It is thought that when the placenta is in front of the baby’s face, it may obstruct the normal process of inversion, when the baby turns head-down as it gets bigger during the pregnancy. As a result, the fetus turns in the other direction and ends in the breech presentation. Some other circumstances that are thought to favour a breech presentation during labour include:

• Premature labour, beginning before the baby undergoes spontanous inversion from breech to vertex presentation
• Multiple pregnancy, preventing the normal inversion of one or both babies
• Polyhydramnios: excessive amount of amniotic fluid, which makes it more difficult for the fetal head to ‘engage’ with the mother’s cervix (polyhydramnios is pronounced ‘poll-ee-hy-dram-nee-oss’. Hydrocephaly is pronounced ‘hy-droh-keff-all-ee’)
• Hydrocephaly (‘water on the brain’) i.e. an abnormally large fetal head due to excessive accumulation of fluid around the brain
• Placenta praevia
• Breech delivery in the previous pregnancy
• Abnormal formation of the uterus.

8.3.2  Diagnosis of breech presentation

On abdominal palpation the fetal head is found above the mother’s umbilicus as a hard, smooth, rounded mass, which gently ‘ballots’ (can be rocked) between your hands.

Why do you think a mass that ‘ballots’ high up in the abdomen is a sign of breech presentation? (You learned about this in Study Session 11 of the Antenatal Care Module.)

The baby’s head can ‘rock’ a little bit because of the flexibility of the baby’s neck, so if there is a rounded, ballotable mass above the mother’s umbilicus it is very likely to be the baby’s head. If the baby was ‘bottom-up’ (vertex presentation) the whole of its back will move of you try to rock the fetal parts at the fundus (Figure 8.3).

Once the fetus has engaged and labour has begun, the breech baby’s buttocks can be felt as soft and irregular on vaginal examination. They feel very different to the relatively hard rounded mass of the fetal skull in a vertex presentation. When the fetal membranes rupture, the buttocks and/or feet can be felt more clearly. The baby’s anus may be felt and fresh thick, dark meconium may be seen on your examining finger. If the baby’s legs are extended, you may be able to feel the external genitalia and even tell the sex of the baby before it is born.

8.3.3  Types of breech presentation

There are three types of breech presentation, as illustrated in Figure 8.4. They are:

• Complete breech is characterised by flexion of the legs at both hips and knee joints, so the legs are bent underneath the baby.
• Frank breech is the commonest type of breech presentation, and is characterised by flexion at the hip joints and extension at the knee joints, so both the baby’s legs point straight upwards.
• Footling breech is when one or both legs are extended at the hip and knee joint and the baby presents ‘foot first’.

8.3.4  Risks of breech presentation

Regardless of the type of breech presentation, there are significant associated risks to the baby. They include:

• The fetal head gets stuck (arrested) before delivery
• Labour becomes obstructed when the fetus is disproportionately large for the size of the maternal pelvis
• Cord prolapse may occur, i.e. the umbilical cord is pushed out ahead of the baby and may get compressed against the wall of the cervix or vagina
• Premature separation of the placenta (placental abruption)
• Birth injury to the baby, e.g. fracture of the arms or legs, nerve damage, trauma to the internal organs, spinal cord damage, etc.

A breech birth may also result in trauma to the mother’s birth canal or external genitalia through being overstretched by the poorly fitting fetal parts.

Cord prolapse in a normal (vertex) presentation was illustrated in Study Session 17 of the Antenatal Care Module, and placental abruption was covered in Study Session 21.

What will be the effect on the baby if it gets stuck, the labour is obstructed, the cord prolapses, or placental abruption occurs?

The result will be hypoxia , i.e. it will be deprived of oxygen, and may suffer permanent brain damage or die.

You learned about the causes and consequences of hypoxia in the Antenatal Care Module.

8.4  Face presentation

Face presentation occurs when the baby’s neck is so completely extended (bent backwards) that the occiput at the back of the fetal skull touches the baby’s own spine (see Figure 8.5). In this position, the baby’s face will present to you during delivery.

Refer the mother if a baby in the chin posterior face presentation does not rotate and the labour is prolonged.

The incidence of face presentation is about 1 in 500 pregnancies in full term labours. In Figure 8.5, you can see how flexed the head is at the neck. Babies who present in the ‘chin posterior’ position (on the right in Figure 8.5) usually rotate spontaneously during labour, and assume the ‘chin anterior’ position, which makes it easier for them to be born. However, they are unlikely to be delivered vaginally if they fail to undergo spontaneous rotation to the chin anterior position, because the baby’s chin usually gets stuck against the mother’s sacrum (the bony prominence at the back of her pelvis). A baby in this position will have to be delivered by caesarean surgery.

8.4.1  Causes of face presentation

The causes of face presentation are similar to those already described for breech births:

• Laxity (slackness) of the uterus after many previous full-term pregnancies
• Multiple pregnancy
• Polyhydramnios (excessive amniotic fluid)
• Congenital abnormality of the fetus (e.g. anencephaly, which means no or incomplete skull bones)
• Abnormal shape of the mother’s pelvis.

8.4.2  Diagnosis of face presentation

Face presentation may not be easily detected by abdominal palpation, especially if the chin is in the posterior position. On abdominal examination, you may feel irregular shapes, formed because the fetal spine is curved in an ‘S’ shape. However, on vaginal examination, you can detect face presentation because:

• The presenting part will be high, soft and irregular.
• When the cervix is sufficiently dilated, you may be able to feel parts of the face, such as the orbital ridges above the eyes, the nose or mouth, gums, or bony chin.
• If the membranes are ruptured, the baby may suck your examining finger!

But as labour progresses, the baby’s face becomes o edematous (swollen with fluid), making it more difficult to distinguish from the soft shape you will feel in a breech presentation.

8.4.3  Complications of face presentation

Complications for the fetus include:

• Obstructed labour and ruptured uterus
• Cord prolapse
• Facial bruising
• Cerebral haemorrhage (bleeding inside the fetal skull).

8.5  Brow presentation

In brow presentation , the baby’s head is only partially extended at the neck (compare this with face presentation), so its brow (forehead) is the presenting part (Figure 8.6). This presentation is rare, with an incidence of 1 in 1000 deliveries at full term.

8.5.1  Possible causes of brow presentation

You have seen all of these factors before, as causes of other malpresentations:

• Lax uterus due to repeated full term pregnancy
• Polyhydramnios

8.5.2  Diagnosis of brow presentation

Brow presentation is not usually detected before the onset of labour, except by very experienced birth attendants. On abdominal examination, the head is high in the mother’s abdomen, appears unduly large and does not descend into the pelvis, despite good uterine contractions. On vaginal examination, the presenting part is high and may be difficult to reach. You may be able to feel the root of the nose, eyes, but not the mouth, tip of the nose or chin. You may also feel the anterior fontanel, but a large caput (swelling) towards the front of the fetal skull may mask this landmark if the woman has been in labour for some hours.

Recall the appearance of a normal caput over the posterior fontanel shown in Figure 4.4 earlier in this Module.

8.5.3  Complications of brow presentation

The complications of brow presentation are much the same as for other malpresentations:

• Cerebral haemorrhage.

Which are you more likely to encounter — face or brow presentations?

Face presentation, which occurs in 1 in 500 full term labours. Brow presentation is more rare, at 1 in 1,000 full term labours.

8.6  Shoulder presentation

Shoulder presentation is rare at full term, but may occur when the fetus lies transversely across the uterus (Figure 8.7), if it stopped part-way through spontaneous inversion from breech to vertex, or it may lie transversely from early pregnancy. If the baby lies facing upwards, its back may be the presenting part; if facing downwards its hand may emerge through the cervix. A baby in the transverse position cannot be born through the vagina and the labour will be obstructed. Refer babies in shoulder presentation urgently.

8.6.1  Causes of shoulder presentation

Causes of shoulder presentation could be maternal or fetal factors.

Maternal factors include:

• Lax abdominal and uterine muscles: most often after several previous pregnancies
• Uterine abnormality
• Contracted (abnormally narrow) pelvis.

Fetal factors include:

• Preterm labour
• Placenta previa.

What do ‘placenta previa’ and ‘polyhydramnios’ indicate?

Placenta previa is when the placenta is partly or completely covering the cervical opening. Polyhydramnios is an excess of amniotic fluid. They are both potential causes of malpresentation.

8.6.2  Diagnosis of shoulder presentation

On abdominal palpation, the uterus appears broader and the height of the fundus is less than expected for the period of gestation, because the fundus is not occupied by either the baby’s head or buttocks. You can usually feel the head on one side of the mother’s abdomen. On vaginal examination, in early labour, the presenting part may not be felt, but when the labour is well progressed, you may feel the baby’s ribs. When the shoulder enters the pelvic brim, the baby’s arm may prolapse and become visible outside the vagina.

8.6.3  Complications of shoulder presentation

Complications include:

• Trauma to a prolapsed arm
• Fetal hypoxia and death.

Remember that a shoulder presentation means the baby cannot be born through the vagina; if you detect it in a woman who is already in labour, refer her urgently to a higher health facility.

8.7  Multiple pregnancy

In this section, we turn to the subject of multiple pregnancy , when there is more than one fetus in the uterus. More than 95% of multiple pregnancies are twins (two fetuses), but there can also be triplets (three fetuses), quadruplets (four fetuses), quintuplets (five fetuses), and other higher order multiples with a declining chance of occurrence. The spontaneous occurrence of twins varies by country : it is lowest in East Asia n countries like Japan and China (1 out of 1000 pregnancies are fraternal or non-identical twins), and highest in black Africans , particularly in Nigeria , where 1 in 20 pr egnancies are fraternal twins. In general, compared to single babies, multiple pregnancies are highly associated with early pregnancy loss and high perinatal mortality, mainly due to prematurity.

8.7.1  Types of twin pregnancy

Twins may be identical (monozygotic) or non-identical and fraternal (dizigotic). Monozygotic twins develop from a single fertilised ovum (the zygote), so they are always the same sex and they share the same placenta . By contrast, dizygotic twins develop from two different zygotes, so they can have the same or different sex, and they have separate placenta s . Figure 8.8 shows the types of twin pregnancy and the processes by which they are formed.

8.7.2  Diagnosis of twin pregnancy

On abdominal examination you may notice that:

• The size of the uterus is larger than the expected for the period for gestation.
• The uterus looks round and broad, and fetal movement may be seen over a large area. (The shape of the uterus at term in a singleton pregnancy in the vertex presentation appears heart-shaped rounder at the top and narrower at the bottom.)
• Two heads can be felt.
• Two fetal heart beats may be heard if two people listen at the same time, and they can detect at least 10 beats different (Figure 8.6).
• Ultrasound examination can make an absolute diagnosis of twin pregnancy.

8.7.3  Consequences of twin pregnancy

Women who are pregnant with twins are more prone to suffer with the minor disorders of pregnancy, like morning sickness, nausea and heartburn. Twin pregnancy is one cause of hyperemesis gravidarum (persistent, severe nausea and vomiting). Mothers of twins are also more at risk of developing iron and folate-deficiency anaemia during pregnancy.

Can you suggest why anaemia is a greater risk in multiple pregnancies?

The mother has to supply the nutrients to feed two (or more) babies; if she is not getting enough iron and folate in her diet, or through supplements, she will become anaemic.

Other complications include the following:

• Pregnancy-related hypertensive disorders like pre-eclampsia and eclampsia are more common in twin pregnancies.
• Pressure symptoms may occur in late pregnancy due to the increased weight and size of the uterus.
• Labour often occurs spontaneously before term, with p remature delivery or premature rupture of membranes (PROM) .
• Respiratory deficit ( shortness of breath, because of fast growing uterus) is another common problem.

Twin babies may be small in comparison to their gestational age and more prone to the complications associated with low birth weight (increased vulnerability to infection, losing heat, difficulty breastfeeding).

You will learn about low birth weight babies in detail in the Postnatal Care Module.

• Malpresentation is more common in twin pregnancies, and they may also be ‘locked’ at the neck with one twin in the vertex presentation and the other in breech. The risks associated with malpresentations already described also apply: prolapsed cord, poor uterine contraction, prolonged or obstructed labour, postpartum haemorrhage, and fetal hypoxia and death.
• Conjoined twins (fused twins, joined at the head, chest, or abdomen, or through the back) may also rarely occur.

8.8  Management of women with malpresentation or multiple pregnancy

As you have seen in this study session, any presentation other than vertex has its own dangers for the mother and baby. For this reason, all women who develop abnormal presentation or multiple pregnancy should ideally have skilled care by senior health professionals in a health facility where there is a comprehensive emergency obstetric service. Early detection and referral of a woman in any of these situations can save her life and that of her baby.

What can you do to reduce the risks arising from malpresentation or multiple pregnancy in women in your care?

During focused antenatal care of the pregnant women in your community, at every visit after 36 weeks of gestation you should check for the presence of abnormal fetal presentation. If you detect abnormal presentation or multiple pregnancy, you should refer the woman before the onset of labour.

Summary of Study Session 8

In Study Session 8, you learned that:

• During early pregnancy, babies are naturally in the breech position, but in 95% of cases they spontaneously reverse into the vertex presentation before labour begins.
• Malpresentation or malposition of the fetus at full term increases the risk of obstructed labour and other birth complications.
• Common causes of malpresentations/malpositions include: excess amniotic fluid, abnormal shape and size of the pelvis; uterine tumour; placenta praevia; slackness of uterine muscles (after many previous pregnancies); or multiple pregnancy.
• Common complications include: premature rupture of membranes, premature labour, prolonged/obstructed labour; ruptured uterus; postpartum haemorrhage; fetal and maternal distress which may lead to death.
• Vertex malposition is when the fetal head is in the occipito-posterior position — i.e. the back of the fetal skull is towards the mother’s back instead of pointing towards the front of the mother’s pelvis. 90% of vertex malpositions rotate and deliver normally.
• Breech presentation (complete, frank or footling) is when the baby’s buttocks present during labour. It occurs in 3–4% of labours after 34 weeks of pregnancy and may lead to obstructed labour, cord prolapse, hypoxia, premature separation of the placenta, birth injury to the baby or to the birth canal.
• Face presentation is when the fetal head is bent so far backwards that the face presents during labour. It occurs in about 1 in 500 full term labours. ‘Chin posterior’ face presentations usually rotate spontaneously to the ‘chin anterior’ position and deliver normally. If rotation does not occur, a caesarean delivery is likely to be necessary.
• Brow presentation is when the baby’s forehead is the presenting part. It occurs in about 1 in 1000 full term labours and is difficult to detect before the onset of labour. Caesarean delivery is likely to be necessary.
• Shoulder presentation occurs when the fetal lie during labour is transverse. Once labour is well progressed, vaginal examination may feel the baby’s ribs, and an arm may sometimes prolapse. Caesarean delivery is always required unless a doctor or midwife can turn the baby head-down.
• Multiple pregnancies are always at high risk of malpresentation. Mothers need greater antenatal care, and twins are more prone to complications associated with low birth weight and prematurity.
• Any presentation other than vertex after 34 weeks of gestation is considered as high risk to the mother and to her baby. Do not attempt to turn a malpresenting or malpositioned baby! Refer the mother for emergency obstetric care.

Self-Assessment Questions (SAQs) for Study Session 8

Now that you have completed this study session, you can assess how well you have achieved its Learning Outcomes by answering the following questions. Write your answers in your Study Diary and discuss them with your Tutor at the next Study Support Meeting. You can check your answers with the Notes on the Self-Assessment Questions at the end of this Module.

SAQ 8.1 (tests Learning Outcomes 8.1, 8.2 and 8.4)

Which of the following definitions are true and which are false? Write down the correct definition for any which you think are false.

A  Fundus — the ‘rounded top’ and widest cavity of the uterus.

B  Complete breech — where the legs are bent at both hips and knee joints and are folded underneath the baby.

C  Frank breech — where the breech is so difficult to treat that you have to be very frank and open with the mother about the difficulties she will face in the birth.

D  Footling breech — when one or both legs are extended so that the baby presents ‘foot first’.

E  Hypoxia — the baby gets too much oxygen.

F  Multiple pregnancy — when a mother has had many babies previously.

G  Monozygotic twins — develop from a single fertilised ovum (the zygote). They can be different sexes but they share the same placenta.

H  Dizygotic twins — develop from two zygotes. They have separate placentas, and can be of the same sex or different sexes.

A is true.  The fundus is the ‘rounded top’ and widest cavity of the uterus.

B is true.  Complete breech is where the legs are bent at both hips and knee joints and are folded underneath the baby.

C is false . A frank breech is the most common type of breech presentation and is when the baby’s legs point straight upwards (see Figure 8.4).

D is true.   A footling breech is when one or both legs are extended so that the baby presents ‘foot first’.

E is false .  Hypoxia is when the baby is deprived of oxygen and risks permanent brain damage or death.

F is false.   Multiple pregnancy is when there is more than one fetus in the uterus.

G is false.   Monozygotic twins develop from a single fertilised ovum (the zygote), and they are always the same sex , as well as sharing the same placenta.

H is true.  Dizygotic twins develop from two zygotes, have separate placentas, and can be of the same or different sexes.

SAQ 8.2 (tests Learning Outcomes 8.1 and 8.2)

What are the main differences between normal and abnormal fetal presentations? Use the correct medical terms in bold in your explanation.

In a normal presentation, the vertex (the highest part of the fetal head) arrives first at the mother’s pelvic brim, with the occiput (the back of the baby’s skull) pointing towards the front of the mother’s pelvis (the pubic symphysis ).

Abnormal presentations are when there is either a vertex malposition (the occiput of the fetal skull points towards the mother’s back instead towards of the pubic symphysis), or a malpresentation (when anything other than the vertex is presenting): e.g. breech presentation (buttocks first); face presentation (face first); brow presentation (forehead first); and shoulder presentation (transverse fetal).

SAQ 8.3 (tests Learning Outcomes 8.3 and 8.5)

• a. List the common complications of malpresentations or malposition of the fetus at full term.
• b. What action should you take if you identify that the fetus is presenting abnormally and labour has not yet begun?
• c. What should you not attempt to do?
• a. The common complications of malpresentation or malposition of the fetus at full term include: premature rupture of membranes, premature labour, prolonged/obstructed labour; ruptured uterus; postpartum haemorrhage; fetal and maternal distress which may lead to death.
• b. You should refer the mother to a higher health facility – she may need emergency obstetric care.
• c. You should not attempt to turn the baby by hand. This should only be attempted by a specially trained doctor or midwife and should only be done at a health facility.

SAQ 8.4 (tests Learning Outcomes 8.4 and 8.5)

A pregnant woman moves into your village who is already at 37 weeks gestation. You haven’t seen her before. She tells you that she gave birth to twins three years ago and wants to know if she is having twins again this time.

• a. How would you check this?
• b. If you diagnose twins, what would you do to reduce the risks during labour and delivery?
• Is the uterus larger than expected for the period of gestation?
• What is its shape – is it round (indicative of twins) or heart-shaped (as in a singleton pregnancy)?
• Can you feel more than one head?
• Can you hear two fetal heartbeats (two people listening at the same time) with at least 10 beats difference?
• If there is access to a higher health facility, and you are still not sure, try and get the woman to it for an ultrasound scan.
• Be extra careful to check that the mother is not anaemic.
• Encourage her to rest and put her feet up to reduce the risk of increased blood pressure or swelling in her legs and feet.
• Be alert to the increased risk of pre-eclampsia.
• Expect her to go into labour before term, and be ready to get her to the health facility before she goes into labour, going with her if at all possible.
• Get in early touch with that health facility to warn them to expect a referral from you.
• Make sure that transport is ready to take her to a health facility when needed.

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Malpresentation and Malposition of the Fetus

Obie Editorial Team

A malpresentation or malposition of the fetus is when the fetus is in any abnormal position, other than vertex (head down) with the occiput anterior or posterior.

The following are considered malpresentations or malpositions:

Unstable lie

• Transverse presentation
• Oblique presentation

Face presentation

Brow presentation

Shoulder presentation

High head at term

• Prolapsed arm

The cause of a malpresentation can often not be clearly identified but it can be associated with the following:

• Preterm pregnancy
• Uterine anomalies
• Pelvic tumors eg f ibroids
• Placenta previa
• Grandmultiparty
• Contracted maternal pelvis
• Multiple gestation
• Too much amniotic fluyid (polyhydramnios)
• Short umbilical cord
• Fetal anomalies (e.g. anencephaly, hydro-cephalus)
• Abnormal fetal motor ability

There is an increased risk of neonatal and maternal complications associated with a malpresentation including neonatal and maternal trauma. If delivery is indicated, doing a cesarean delivery can significantly decrease the risk of complications.

Transverse lie

Oblique lie

In most cases of a normal vertex (head down) presentation, the baby's head is flexed with the chin close to the baby's chest. In these cases, the presenting part is the occiput, the posterior part of the baby's head. If the baby's head is more but not completekly extended then the baby's brow presents towards the vagina. A brow presentation is rare, maybe happening in about 1 in 2,000 births, more likely in pwomen with their second or subsequent births. A baby with a brow presentation can only deliver vaginally if the head flexes or extends.

Prolapsed arm 

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Abnormal Fetal Position and Presentation

Under normal circumstances, a baby is in the vertex (cephalic) position before delivery. In the vertex position, the baby’s head is at the lower part of the abdomen, and the baby is born head-first. However, some babies present differently before delivery. Abnormal presentations may place the baby at risk of experiencing umbilical cord problems and/or a birth trauma .

What is the difference between fetal presentation and position?

In the womb, a fetus has both a presentation and a position .

• Presentation refers to the part of the baby’s body that leads out of the birth canal. For example, if a baby’s rear is set to come out of the birth canal first, the baby is said to be in “breech presentation.”
• Position refers to the direction the baby is facing in relation to the mother’s spine. A baby could be lying face-first against a mother’s spine or face up towards the mother’s belly.

What way should a baby come out during birth?

Vertex presentation is the ‘normal’ position for birth and the lowest-risk presentation for vaginal birth.

In vertex presentation, the baby is positioned head-first with back of the head entering the birth canal first. In this position, the baby’s chin is tucked into their chest and they are facing the mother’s back (occipito-anterior position).

Any position other than vertex position is abnormal and can make vaginal delivery much more difficult or sometimes impossible . If a baby’s chin isn’t tucked into their chest, they may come out face-first (face presentation), which can cause birth injury.

What happens if a baby isn’t in the standard vertex position during birth?

Before vaginal delivery, the baby must be in the standard vertex presentation and within the normal range for weight and size. This helps ensure the safety of both baby and mother during labor.

When the baby’s size or position is abnormal, physicians should usually intervene . This may mean simple manual procedures to help reposition the baby or, in many cases, a planned C-section delivery . Healthcare professionals must identify and quickly resolve issues related to fetal size, weight, and presentation. Failing to intervene is medical malpractice .

Numerous complications may result from abnormal weight, size, abnormal position, or abnormal presentation.

Should I contact a lawyer?

Abnormal presentation, if mishandled, can cause birth injuries. If you have any concerns about your baby’s labor and delivery, a consultation with an attorney is completely free. A birth injury lawyer can provide insight about potential medical malpractice.

Compound presentation

In a compound presentation , there are multiple presenting parts. Most commonly,  the baby’s head and an arm come out at the same time. Sometimes compound presentation can occur with twins where the head of the first twin presents with the extremity of the second twin.

Risk factors for compound presentation include:

• Prematurity
• Intrauterine growth restriction (IUGR)
• Multiple gestations ( twins , triplets, etc.)
• Polyhydramnios (too much amniotic fluid)
• A large pelvis
• External cephalic version
• Rupture of membranes at high station

Compound presentations can be detected via ultrasound before the mother’s water breaks. During labor, a cervical examination finds compound presentation.

If a mother has polyhydramnios, the risk of compound presentation is higher. The flow of amniotic fluid when the membranes rupture can sweep extremities into the birth canal or cause a cord prolapse , which is a medical emergency.

If compound presentation continues, it is likely to cause dystocia (the baby becoming stuck in the birth canal), which is also a medical emergency. Often, the safest way to deliver a baby with compound presentation is C-section.

Complications like dystocia and cord prolapse carry risks of severe adverse outcomes, including cerebral palsy , intellectual and developmental disabilities, and hypoxic-ischemic encephalopathy (HIE).

Limb presentation

Limb presentation during childbirth means that the part of the baby’s body that emerges first is a limb – an arm or a leg. Babies with limb presentation cannot be delivered safely via vaginal delivery. They must be delivered quickly by emergency C-section.

Limb presentation poses a large risk for dystocia, which is a medical emergency.

Occipitoposterior (OP) position

In occipitoposterior (OP) position, the baby is head-first with the back of the head turned towards the mother’s back. This position is also called an occiput posterior position. The baby’s head can be rotated to the right (right occipitoposterior position, or ROP), or to the left (left occipitoposterior position, or LOP).

Approximately 1 out of 19 babies present  in a posterior position rather than an anterior position.

Occipitoposterior position increases the baby’s risk of experiencing:

• prolonged labor
• prolapsed umbilical cord
• forceps and vacuum extractor injuries
• brain bleeds
• a lack of oxygen to the brain
• Hypoxic-ischemic Encephalopathy (HIE)

If a manual rotation cannot be quickly and effectively performed in the face of fetal distress, the baby should be delivered via C-section.  A C-section can help prevent oxygen deprivation caused by complications with OP position.

A nurse explains posterior position

Breech presentation

Breech presentation is normal throughout pregnancy. However, by the 37th week, the baby should change positions in time for labor. Breech presentation occurs when a baby’s buttocks or legs are positioned to descend the birth canal first. Breech positions are dangerous. During a vaginal delivery, a baby is at increased risk for serious problems with labor.

Most experts recommend C-section delivery for all types of breech positions because it is the safest method of delivery and it helps avoid birth injuries (6). Mismanaged breech birth can result in the following conditions:

• Traumatic birth
• brain bleeds (intracranial hemorrhages)
• Spinal cord fractures
• Hypoxic-ischemic encephalopathy (HIE)
• Cerebral palsy
• Intellectual disabilities
• Developmental delays

Dealing with a birth injury can be difficult, but our attorneys can help.

Face presentation

A baby usually tucks its chin so they can be born head-first. A face presentation occurs when the face is the presenting part of the baby. In this position, the baby’s neck is extended backward. The back of the head touches the baby’s back. This prevents head engagement and descent of the baby through the birth canal.

In some cases of face presentation, the trauma of a vaginal delivery causes face deformation and fluid build-up (edema) in the face and upper airway. The baby will often need a breathing tube placed in the airway to maintain airway patency and assist breathing.

Image by healthhand.com

Trauma is very common during vaginal delivery of a baby in face presentation. Medical staff must warn parents that their baby may be bruised and that a C-section is available to avoid this trauma.

W hen face presentation occurs, experts recommend liberal use of C-section.

Complications of Mismanaged Face Presentation

• Prolonged labor
• Facial trauma
• Facial and upper airway edema (fluid build-up in the face, often caused by trauma)
• Skull molding (abnormal head shape that results from pressure on the baby’s head during childbirth)
• Respiratory distress or difficulty in ventilation (the baby being able to move air in and out of lungs) due to upper airway trauma and edema
• Spinal cord injury
• Abnormal fetal heart rate patterns
• 10-fold increase in fetal compromise
• Brain bleeds
• Intracranial hemorrhages
• Permanent brain damage

Brow presentation

Brow presentation is similar to face presentation, but the baby’s neck is less extended. A fetus in brow presentation has the chin untucked, and the neck is extended slightly backward. The brow (forehead) is the part situated to go through the pelvis first. Vaginal delivery can be difficult or impossible with brow presentation, because the diameter of the presenting part of the head may be too big to safely fit through the pelvis.

Risk factors and conditions associated with brow presentation

Brow presentation has been linked to several risk factors and co-occurring conditions. These include:

• Multiparity (having previously given birth)
• Premature delivery
• anencephaly (an absence of major parts of the brain and skull)
• anterior neck mass (a growth on the front of the neck)
• Previous c-section delivery
• Polyhydramnios (excessive amniotic fluid)

Diagnosis of brow presentation

Brow presentation can often be diagnosed through a vaginal examination during labor. If there are no conclusive signs from the physical examination, an ultrasound can show brow presentation.

Warning signs of brow presentation may include signs of fetal distress or lack of labor progression.

Management of brow presentation

Infants in brow presentation early in labor may spontaneously move into a safer position during the delivery process. Safe delivery in brow presentation may be possible if the infant is small and/or the mother’s pelvic opening is large. For these reasons, physicians occasionally recommend vaginal delivery of infants in brow presentation.

Doctors attempting vaginal delivery of a baby in brow presentation must watch for signs of fetal distress, such as an abnormal heart rate.  Signs of fetal distress can indicate that a baby is in danger of sustaining serious brain injury. Quick intervention can prevent harm to the baby.

Medical staff should also monitor progression of labor when attempting a vaginal delivery of a baby in brow presentation. Prolonged labor can cause extended periods of fetal oxygen deprivation, which can cause birth asphyxia and permanent injury. 

If an infant in brow presentation begins to show signs of distress, or if labor progress stops or slows significantly, physicians should be ready to move on to a cesarean delivery.

Labor induction or augmentation with the drug Pitocin (synthetic oxytocin) is very dangerous in cases of brow presentation. Pitocin can lead to excessive uterine contractions. The contractions can put pressure on the infant’s head and cut off their oxygen supply. In cases of brow presentation, usage of Pitocin is risky when the baby is not positioned for safe delivery.

Complications of brow presentation

Physicians can diagnose brow presentation early. When appropriately managed, delivery

can typically occur with no serious negative effects on the mother or baby. 

However, if medical professionals fail to recognize brow presentation and intervene as necessary, there can be lasting consequences. Infants may suffer oxygen deprivation due to prolonged labor, or traumatic injuries from a difficult delivery. Some of the most severe conditions resulting from mismanaged brow presentation births include:

• Hypoxic-ischemic encephalopathy
• Periventricular leukomalacia
• Seizure disorders
• Developmental disabilities

Shoulder presentation (transverse lie)

Shoulder presentation (transverse lie) is when the arm, shoulder or trunk of the baby enter the birth canal first. When a baby is in a transverse lie position during labor, C-section is almost always used as the delivery method.

These situations make transverse lie position more likely:

• polyhydramnios (too much amniotic fluid)
• Multiples pregancy
• placenta previa
• a baby with intrauterine growth restriction (IUGR)

Once the membranes rupture, there is an increased risk of umbilical cord prolapse in this position. A C-section should ideally be performed before the membranes break. Failure to quickly deliver the baby by C-section when transverse lie presentation is present can cause severe birth asphyxia due to cord compression and trauma to the baby. This can cause hypoxic-ischemic encephalopathy (HIE), seizures, permanent brain damage, and cerebral palsy.

Legal help for birth injuries from abnormal position or presentation

The award-winning birth injury attorneys at ABC Law Centers: Birth Injury Lawyers have over 100 years of joint experience handling birth trauma cases related to abnormal position or presentation. If you believe your loved one’s birth injury resulted from an instance of medical malpractice, you may be entitled to compensation from a medical malpractice or personal injury case. During your free legal consultation, our birth injury attorneys will discuss your case with you, determine if negligence caused your loved one’s injuries, identify the negligent party, and discuss your legal options with you.

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• Julien, S., and Galerneau, F. (2017). Face and brow presentations in labor. Retrieved from https://www.uptodate.com/contents/face-and-brow-presentations-in-labor .
• World Health Organization, UNICEF, and United Nations Population Fund. Malpositions and malpresentations. Retrieved from http://hetv.org/resources/reproductive-health/impac/Symptoms/Malpositions__malpresetations_S69_S81.html .
• Barth, W. (2016). Compound fetal presentation. Retrieved from https://www.uptodate.com/contents/compound-fetal-presentation .
• Gabbe, S.G., … Grobman, W.A. (2017). Compound Presentation. Retrieved from https://expertconsult.inkling.com/read/gabbe-obstetrics-normal-problem-pregnancies-7e/chapter-17/compound-presentation .
• Argani, C.H. and Satin, A.J. (2018) Occiput posterior position. Retrieved from https://www.uptodate.com/contents/occiput-posterior-position .
• Hofmeyr, G.J. (2018). Overview of issues related to breech presentation. Retrieved from https://www.uptodate.com/contents/overview-of-issues-related-to-breech-presentation .
• Hofmeyr, G.J. (2017). Delivery of the fetus in breech presentation. Retrieved from https://www.uptodate.com/contents/delivery-of-the-fetus-in-breech-presentation .
• Strauss, R.A. (2017). Transverse fetal lie. Retrieved from https://www.uptodate.com/contents/transverse-fetal-lie .
• Moldenhauer, J.S. (2018). Abnormal Position and Presentation of the Fetus. Retrieved from https://www.merckmanuals.com/home/women-s-health-issues/complications-of-labor-and-delivery/abnormal-position-and-presentation-of-the-fetus .

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What Is Considered Abnormal Position and Presentation of a Fetus?

Did you know babies have to be in a particular position before they’re born? They’re supposed to be facing rearward, towards the mother’s back, presenting head first. But sometimes, that doesn’t always happen. So how do you know if your child is in the wrong position? The experienced Louisville birth injury attorneys at Dolt, Thompson, Shepherd & Conway, PSC explain what an abnormal position and presentation of a fetus looks like?

Abnormal Position

An abnormal position happens when the fetus faces forward towards the mother’s stomach. Now, if you’re early on in your term and your baby is not positioned rearward, no worries. The fetus does not move into this position until the end of the pregnancy when it comes time for delivery. Doctors will use the baby’s position to determine the best delivery options available to the mother, as natural birth may not be an option for an abnormally positioned baby.

Abnormal Presentation

When doctors discuss the baby’s presentation, they’re referring to the part of the baby’s body that leads its way through the birth canal. In a correct presentation, the top of the head leads the way with the face and body angled in one direction, and the neck is flexed. However, if the baby’s neck is not flexed and the presentation is face or brow first, this can be considered an abnormal presentation.

There are three other types of abnormal presentations, including:

• Occiput posterior presentation: This position is called “Sunny-side up” due to the baby’s presentation. Their head is positioned first, but their face is facing up. This abnormal presentation is common, and the baby can be delivered facing this way; however, this can be hard on both the mother and baby as traveling through the pelvis is much more difficult.
• Breech presentation: In this position, the buttocks or feet are present first. A breech presentation is one of the other most common abnormal presentations, occurring in around 4% of full-term deliveries.
• Transverse lie: In this position, the fetus is laid down horizontally across the birthing canal, shoulder first. In order to deliver a baby in this position, a cesarean delivery is done, unless in the case where this baby is the second in a set of twins. In this case, the doctor usually turns the fetus before delivering it through the vagina.

If your doctor fails to take a safe course of action to deliver your baby, you may be entitled to seek justice. Our team of Louisville personal injury attorneys at Dolt, Thompson, Shepherd & Conway, PSC has extensive experience advocating for mothers and their children who sustained birth injuries due to the negligence of doctors. If you have been in this situation before, it’s best advised to reach out to a specialized Louisville medical malpractice lawyer at our firm as soon as possible.

Call our firm at (502) 244-7772 or contact us online   to get started on a consultation form.

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Factors That Increase the Risk of Abnormal Positioning of the Fetal Head

Abnormal positioning of the fetal head can lead to complications during pregnancy. This article briefly explains abnormal fetal head positioning.

Dr. Asha. C

Medically reviewed by

Dr. Richa Agarwal

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Introduction:

During normal delivery, mostly the baby will be in cephalic presentation; that is, the head of the baby will be positioned downward, facing the mother's back, the chin will be tucked towards the baby's chest, and the back of the head will enter the pelvis. Usually, most babies come in this position within the 32 to 36th week of pregnancy . Although other fetal positions might have some difficulties during delivery, this article explains different abnormal fetal positions.

What Does Abnormal Baby Position Mean?

The direction in which the fetus faces the womb is called the position of the fetus. The safest position for a fetus just before delivery is facing the mother’s front of the body. However, it is considered abnormal when a fetus is headed down the birth canal with the face, feet, or shoulders first. Normally, the fetus may also be situated facing slightly right or left, with arms crossing the chest and a tucked chin; all other presentations and positions other than this are considered abnormal. An abnormal position or presentation also means that the pregnant woman is in for a difficult or long vaginal delivery or a cesarean delivery. Regardless of the situation and position, doctors and healthcare providers must be prepared to act whenever necessary.

How Is the Position Of the Baby Determined?

The position and presentation of the baby are often observed to avoid any complications during pregnancy. Each patient's risk factors are assessed by checking the patient's medical history for past pregnancies, obesity, hypertension, diabetes, and placenta previa . A physical exam, ultrasound scan, or other prenatal tests may help in detecting abnormalities in the shape of the uterus, the amount of amniotic fluid, the position of the placenta, or a narrow pelvis. The conditions like diabetes, hypertension, and obesity are also treated.

These tests can help to determine the fetal position of the medical personnel. To closely monitor the baby, frequent tests will be conducted in the late-term, around 36 weeks of pregnancy. Once the labor begins, a healthcare professional will get a more accurate sense of the baby's position by doing a vaginal examination. When the cervix is dilated enough, the health care professionals will insert their fingers into the vagina to feel the baby's skull as the baby moves down in the birth canal.

Furthermore, mothers should also pay close attention to the movement of the baby, and if any different movements are felt, it should be noted. Belly mapping is a technique that can help mothers to assess their baby's movement and obtain a sense of the baby's position as they near labor. For instance, by locating where strong kicks are felt, the position of the baby's legs and feet can be determined. Another landmark a mother can feel is a large, flat plane that can mostly be the baby's back.

What Are the Factors that Increase the Risk of Abnormal Fetal Positioning?

There are many factors that can increase the risk of abnormal fetal positioning, including:

• Early labor or a premature baby can cause abnormal positioning; the baby may not have had time to come in proper preparation for birth yet.
• If there are issues with the placenta, such as if the placenta is attached too low in the uterus or gets disconnected from the uterus before birth, it can prevent the baby from rotating and getting into the right position for birth.
• In the case of multiple pregnancies, it can be hard for each baby to get into a normal position because of the limited space created as the babies grow throughout the pregnancy.
• If there is an abnormality in the shape of the uterus, such as a partial septate uterus, there might not be enough shape for a baby to move into position for birth.
• Fibroids in the uterus can also create less space for baby movement.

What Is the Different Abnormal Position Of the Fetus?

The different abnormal positions of the fetus are as follows:

1) Occiput Anterior (Right and Left): The front of a baby's head is called the anterior portion, and the back is called the posterior portion. Two different positions can be referred to as the occiput anterior (OA) positions.

• Left Occiput Anterior (LOA) - This position is the most common in labor. The baby's head will be slightly off-center in the pelvis, and the back of the fetus's head will be toward the mother's left thigh.
• The Right Occiput Anterior (ROA) - This presentation is also common in labor. The back of the baby's head is slightly off-center in the pelvis, with the back of the baby's head facing toward the mother's right thigh.

The occiput anterior position does not cause any complications or additional labor pain during birth.

2) Occiput Transverse (Right and Left):

• Right Occiput Transverse (ROT) - When the baby is positioned facing outward toward the mother's left thigh, then the baby is said to be right occiput transverse. The right occiput transverse is halfway between an anterior and posterior position. If the baby moved from a posterior position to ROT, then it is a sign of a positive move toward the anterior position.
• Left Transverse Occiput (LOT) - When the baby is positioned facing out towards the mother's right thigh, then it is a left occiput transverse position. This position is midway between a posterior and anterior position. If a baby moves from a posterior position to the left occiput transverse, then it is a positive movement toward a normal position.

When a baby is in the LOT or ROT position during labor, there will be more pain and a slower progression.

3) Occiput Posterior (Right and Left): When the baby is facing forward, then it is referred to as the occiput posterior position.

• Right Occiput Posterior (ROP) - When the baby is positioned facing forward with a slight right tilt towards the mother's left thigh, it is called the right occiput anterior. This presentation causes more pain and slows down labor.
• Left Occiput Posterior (LOP) - When the baby is facing forward with a slight tilt to the left toward the mother's right thigh is called left occiput posterior. This presentation can slow the progression of labor and lead to more back pain.

Conclusion:

Abnormal presentation occurs when the baby is in a position other than the cephalic position, which is considered the normal position. The position of the baby is monitored from the beginning to avoid abnormalities during pregnancy because abnormal positions can cause complications during delivery. Cesarean delivery is often considered in women with abnormal fetal positions.

Frequently Asked Questions

What is meant by abnormal positioning, what are the risk factors for causing fetal presentations rather than vertex, how will malposition influence labor and delivery, what is meant by positioning in pregnancy, which complication is related to abnormal position in pregnancy, what are three primary pregnancy associated risk factors, why is positioning vital in labor, can different positions during pregnancy influence pregnancy, which position is considered better during pregnancy, what are the common complications that occur during pregnancy, what is the term abnormal in pregnancy, what is the vital thing to consider while positioning the patient, why are pregnant women asked to sleep with a pillow between their legs, what are the positions to be avoided during pregnancy.

Your baby in the birth canal

https://medlineplus.gov/ency/article/002060.htm

Fetal Position

https://oacapps.med.jhmi.edu/OBGYN-101/Text/Abnormal%20L&D/fetal_position.htm

Unusual presentations and positions and multiple pregnancy

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1115589/

Obstetrics and Gynecology

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Breech Presentation - An Overview

Nuchal Translucency Scan and Its Importance in Pregnancy

Abnormal Fetal Lie - An Overview

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• Open access
• Published: 21 August 2024

Novel fetal phenotype of TAF8 deficiency

• Golan Nadav 1   na1 ,
• Marwan Odeh 2 , 3   na1 ,
• Aviv Mesika 1 , 3 ,
• Yael Abarbanel Har-Tal 1 ,
• Moshe Goldfeld 4 ,
• Tania Zalatkin 5 ,
• Alejandro Livoff 5 ,
• Raghad Jeris Khoury 1 ,
• Inshirah Sgayer 2 , 3 ,
• Liat Ben-Sira 6 ,
• Limor Kalfon 1 &
• Tzipora C. Falik-Zaccai   ORCID: orcid.org/0000-0003-0065-1922 1 , 3  

European Journal of Human Genetics ( 2024 ) Cite this article

110 Accesses

Metrics details

• Clinical epigenetics
• Clinical genetics

TAF8 is part of the transcription factor TFIID complex. TFIID is crucial for recruiting the transcription factor complex containing RNA polymerase II. TAF8 deficiency was recently reported as causing a severe neurodevelopmental disorder in eight patients. We have ascertained three Muslim Arab couples with fetal brain malformations. Clinical, imaging, pathological, biochemical, and molecular analyses were performed. Pre-natal ultrasound performed in four pregnancies revealed massive cerebellar atrophy, microcephaly, cerebral and corpus callosum (CC) anomalies. Pre-natal MRI studies of two of the affected fetuses confirmed microcephaly, small vermis, abnormal sulcation pattern with malformation, and shortening of CC. The fetuses were found to carry a novel likely pathogenic homozygous variant (c.45 + 5 G > A) of TAF8 , predicted to affect splicing and presenting autosomal recessive inheritance. Post-mortem examinations confirmed the imaging studies in one fetus. Dysmorphic features including hypertelorism, wide nasal bridge, clinodactyly, and hirsutism were present. Western blotting analysis in fibroblasts of an affected fetus demonstrated a significant reduction of TAF8 protein. We determined high expression levels of TAF8 which progressively diminish in fetal brains of WT mice. We report for the first time the fetal presentation of TAF8 deficiency due to a novel genetic variant, and study TAF8 presence during fetal and neonatal periods in mouse brains. Our study may contribute to understanding the role of TAF8 in the developing human brain.

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Introduction.

TATA-box binding protein-associated factor 8 (TAF8) is a member of TATA-binding protein (TBP)-associated factors (TAFs) group [ 1 ] which binds with TBP to the TATA-box sequence in the promoter region [ 2 ] as part of the transcription factor IID (TFIID) complex. TFIID is essential for RNA polymerase II (pol II) function during basal transcription machinery in eukaryotes [ 3 ]. Pol II has a critical role in gene expression during different stages of embryonic development [ 4 ] and studies have shown that defects in its function lead to various diseases and developmental disorders [ 5 ]. Furthermore, the literature describes several pathogenic genetic variants in TAF genes including TAF1 , TAF2 , TAF6 , and TAF13 [ 6 ]. The main clinical manifestations of patients with TAF -related disorders are global developmental delay and dysmorphic features [ 7 , 8 , 9 ]. Recently, Wong et al. reported pathogenic genetic variants in TAF8 that have been associated with severe psychomotor retardation, feeding problems, microcephaly, growth retardation, spasticity, and epilepsy [ 1 ]. TAF8 is also involved in regulating the activity of TFIID and has a role in the recruitment of other proteins to the complex [ 10 ]. Furthermore, TAF8 is a key player in the regulation of gene expression [ 2 ] and the stabilization of the TFIID complex [ 3 ]. There is, however, no evidence that links the expression of TAF8 and normal brain formation. We report here for the first time the pre-natal presentation of four fetuses with a novel homozygous pathogenic genetic variant of TAF8 leading to the elimination of the expression of TAF8 in the affected fetal brain and determining the expression of TAF8 in the developing brains of mice.

The guardians of the affected individuals signed an informed consent form for participation in this study. The Israeli Supreme Helsinki Committee approved the study; (GMC-991110, NHR-58-17).

Pregnant woman #1 (V6, Fig.  1A ), a 22-year old, healthy and in a consanguineous marriage (first cousins once removed) who, in her third pregnancy (VI13, Fig.  1A ) presented for fetal neuro-sonography exam since earlier fetal scan at 23 + 1 weeks’ gestation (WG) had revealed microcephaly and hypoplasia of corpus callosum (CC). Later, in the 19th week of her fourth pregnancy (VI14, Fig.  1A ), she presented with similar fetal brain abnormalities in fetal anatomy. In her fifth pregnancy, she had CVS testing at 11 WG.

A Pedigree of the extended Muslim family presenting a novel pathogenic genetic variant in TAF8 . B Splicing sequence alignment in TAF8 orthologs shows high conservation of the c.45 + 5 G > A variant (highlighted in yellow) and almost complete conservation of the nearby residues (highlighted in light blue). C Schematic representation of TAF8 gene (bars = exons) and previously reported pathogenic variants including the novel variant c.45 + 5 G > A reported here for the first time.

Pregnant woman #2 (V8, Fig.  1A ), a 24-year-old in her first pregnancy from a consanguineous marriage (first cousins), presented to us after her fetal scan at 23w + 2d revealed a short CC, cerebellar hypoplasia, and microcephaly (VI15, Fig.  1A ).

Pregnant woman #3 (VI5, Fig.  1A ), a 22-year-old in her first pregnancy from a consanguineous marriage (first and second cousins), presented at 23 WG with fetal anatomy scan that revealed delayed fetal growth (equivalent to 19–20 weeks), microcephaly, and severe brain atrophy (VII1, Fig.  1A ). An earlier fetal scan at 15 WG reported bilateral cervical cysts with no additional abnormal findings. All three women are family-related (Fig.  1A ).

Imaging studies

Ultrasound studies.

Fetal neuro-sonography exams were performed using a GE Voluson E10 machine, and fetal CNS assessment involved axial, sagittal, and coronal views, utilizing both abdominal and transvaginal approaches.

Pregnant women #1 (V6, Fig.  1A ) and #2 (V8, Fig.  1A ) underwent fetal brain MRI (3T Siemens Skyra MRI scanner or GE, discovery MR 450 scanner) at 28 and 29 WG, respectively. Following a localizing gradient-echo sequence, ultra T2-weighted single-shot fast-spin echo MR images were performed in the axial, coronal, and sagittal planes.

Pregnant woman #3 (VI5, Fig.  1A ) underwent termination of pregnancy at 20 WG, post-mortem MRI was acquired immediately after the procedure using 1.5T (GE, OPTIMA 450 W), T1- and T2-weighted, FSE, 3D cube, SWI, DWI sequences.

Pathological analysis

A female fetus (VI14 Fig.  1A ) with growth parameters consistent with 20 WG arrived for fetal PM studies including whole body and brain using standard protocol [ 11 ].

Cell culture

To study the effect of the genetic variant in TAF8 on the RNA and protein expression, primary fibroblast cell cultures were derived from skin biopsies taken from a TAF8-deficient fetus (VI14 Fig.  1A ) and two normal control fibroblasts from healthy donors (not fetuses) using standard protocols. Fibroblasts were chosen since they are identical cell types with no differentiation potential. Fibroblast cells and nervous system cells both originate from ectoderm origin.

Western blotting

Proteins were extracted from fibroblasts of healthy donors and fetus VI14 as well as from embryos of WT mice. Western blot (WB) analysis was performed by using TAF8 primary antibody, Abcam (Waltham, MA, USA; Cat. No. ab204894) and anti-β-actin antibody, Cell Signaling Technology (Danvers, MA, USA; Cat. No. 8H10D10) at 1:250 concentrations. The secondary antibodies of the WB experiments were included IgG-HRP Goat Anti-Rabbit, Santa Cruz Biotechnology (Dallas, TX USA; Cat. No. SC 2004) and IgG-HRP Goat anti-Mouse, Invitrogen (Paisley, UK; Cat. No. A16072) at 1:2000 concentration. Membrane was filmed using G:BOX (Syngene, Frederick, WA, USA) with a chemiluminescence light.

cDNA synthesis

RNA and cDNA production was performed from fibroblast cells (affected VI14 and healthy controls) using standard protocol by qScript™ cDNA Synthesis Kit (Quanta Biosciences, Gaithersburg, MD, USA) according to the manufacturer’s instructions. cDNA amplicons for TAF8 and GAPDH were evaluated using multiplex analysis. GAPDH was used as a reference gene and normalized to healthy controls.

Sanger sequencing

Sanger sequencing was performed using ABI Prism 3500xl Genetic Analyzer, Applied Biosystems (Foster City, CA, USA). Standard protocols.

Statistical analysis

Statistical analysis included T -test and one-way ANOVA test performed by Prism—GraphPad Software (GraphPad Software, Boston, MA, USA).

Patients, pregnancy follow-up, and fetal neuro-sonography

Three couples from an extended Muslim Arab family (Fig.  1A ) approached the genetics clinic as fetal brain malformations were discovered on fetal anatomy and neuro-sonography exams.

Pregnant woman #1 (V6, Fig.  1A ) had fetal neuro-sonography at 24w + 5d which showed microcephaly, CC hypoplasia, and growth-restricted fetus. Delayed brain sulcation was observed, as was the fetus with constant bilateral clenched fists. Fetal brain MRI at 28 WG confirmed severe microcephaly and CC hypoplasia (VI13, Fig.  2B ). The woman was referred for genetic counseling and subsequently underwent amniocentesis. The chromosomal microarray analysis yielded normal results. Ultimately, she opted for termination of pregnancy at 32 weeks resulting in the delivery of a male fetus weighing 1229 grams (5th percentile on local growth charts) [ 12 ]. During her fourth pregnancy, she again underwent pregnancy termination at 20 weeks due to the presence of similar fetal brain abnormalities (Fig.  2A ) demonstrating cerebellar hypoplasia, confirmed on post-mortem brain MRI (VI14, Fig.  2B ). She delivered a female fetus, birthweight 275 grams (<3rd percentile) (Table  1 ).

A Ultrasound of brain at 19 weeks of VI13 demonstrating hypoplastic cerebellum (measurement between two calipers +) and enlarged cisterna magna. B MRI images of the three fetuses studied (VI13, VI14, VI15): axial T2 (A1, A2) and axial T1 (A3)—flat open sylvian fissure with small frontal lobes. Sagittal T2 (B1–B3)—dysmorphic corpus callosum (short and thick). Abnormal brain stem with flat pons. Abnormal small vermis, open fastigium, no primary fissure. Coronal T2—small TCD (C1–C3), abnormal gyral pattern (arrow) (D1, D2). C Affected TAF8 deficiency, fetal brain, showing leptomeningeal glioneuronal heterotopia (arrows), magnification—×10. D Demonstrating partial agenesis of the CC (circle) and intact parts of the CC (arrows), magnification—×2.

Pregnant woman #2 (V8, Fig. 1A ) underwent fetal neuro-sonography exam at 26w + 2d which revealed a short CC, cerebellar hypoplasia, and microcephaly. Fetal brain MRI was performed at 29 WG and revealed the above-mentioned findings (VI15, Fig.  2B ). The pregnancy was terminated at parents’ request at 30w + 3d; a male fetus with birthweight of 1175 grams (14th percentile) was delivered (Table  1 ).

Pregnant woman #3 (VI5, Fig.  1A ) underwent termination at 31w as fetal neuro-sonography confirmed microcephaly and severe brain atrophy. She underwent feticide and labor induction, and a growth-restricted female fetus of 1141 grams (9th percentile) birthweight was delivered (Table  1 ). A summary of the main clinical symptoms is provided in Table  1 .

Fetal MRI demonstrated additional findings including an abnormal sulcation pattern with open sylvian fissures, abnormal gyral pattern, small frontal lobes, abnormal brain stem with flat pons, and abnormal small cerebellum (Fig.  2B ).

Molecular analyses

TAF8 deficiency was diagnosed in four affected fetuses (Fig.  1A ). They were found to carry a homozygous pathogenic splicing variant, c.45 + 5 G > A, in TAF8 which is a highly conserved splicing site (Ensembl 2024, Fig.  1B ). The c.45 + 5 G > A in TAF8 is a novel genetic variant (Clinvar SUB13973570, Fig.  1C ); we determined it to be pathogenic in the four affected fetuses by segregation analysis within the nuclear families and biochemical analysis showing lack of TAF8 protein in an affected fetus. Population screening in the families’ village of residence revealed two carriers out of 77 individuals screened (2.6%), representing a founder genetic variant. There were no healthy individuals who were homozygous for this genetic variant.

Pathological evaluation of the female fetus: growth parameters were consistent with 20 WG, head circumference was 16 cm, microcephalic, (vs. 17.2 cm normal head circumference for 20 WG). No other external malformations were found. On internal inspection, the brain weight was 24 g (vs. 45.5 g normal weight for 20 WG). The brain appeared small for gestational age, the cortex appeared normal for gestational age. Partial agenesis of CC was noted (agenesis of the posterior part). Brain ventricles were not widened. Severe hypoplasia of the cerebellum was seen. Brain stem and pons were normal. Multiple sections of the cerebral hemispheres, cerebellum, and brain stem were performed.

On microscopic examination, abnormal development of the gyri and sulci with leptomeningeal glioneuronal heterotopia was seen (Fig.  3A, B ), CC was thin, and cerebellar structure was abnormal with underdevelopment of the cerebellar hemispheres (Fig.  3C ). Brain stem structure and the basal ganglia were normal. No other internal malformations were found.

A mRNA multiplex analysis of TAF8 in affected fetal (P) and normal control (N) fibroblasts. B WB analysis of TAF8 in affected fetal fibroblasts (P) and normal controls (N). *** p  < 0.001 T -test, n  = 3 in each group. C WB analysis of TAF8 at different developmental stages in mice. *** p  < 0.001 one-way ANOVA test, n  = 3 in each group.

Fibroblast cell culture analysis

To investigate the studied genetic variant effect on TAF8 mRNA and protein levels, proteins and RNA were extracted from fibroblasts derived from an affected fetus VI14 (P) and a healthy control (N). Significantly lower TAF8 protein expression and absence of TAF8 mRNA level were detected in P vs. N, P  < 0.001 (Fig.  3A, B ).

TAF8 expression in brain during the embryonic development

To study the importance of TAF8 during embryonic stages, the protein was extracted from the brains of WT mice at 4D (4 days), newborn (NB) and 15 embryonic days (15E) stages. WB analysis demonstrated significantly lower TAF8 expression at 4D ( p  < 0.001) and NB ( p  < 0.001) vs. 15E stage (Fig.  3C ). Similarly, significantly reduced protein level of TAF8 was detected at 4D vs. NB ( p  < 0.001) (Fig.  3C ).

We report, for the first time, fetal representation of TAF8 deficiency and document its importance in brain structural development.

TAF8 deficiency is a rare disease worldwide with only eight reported patients. We currently report four fetuses with a novel homozygous splicing genetic variant of TAF8 , brain malformations, and restricted fetal growth (two fetuses from late-terminated pregnancies presented significant restriction in their growth while the other two were in the low normal range), meaning that TAF8 is a major player in normal brain development and might also affect growth patterns in the second and third trimesters.

Three of the fetuses underwent brain MRI (two prenatally and one post-termination at 20 WG) that supported the brain abnormalities already seen on US examination: flat open sylvian fissure with small frontal lobes, dysmorphic CC (short and thick), abnormal brain stem with flat pons, abnormal small vermis, open fastigium, hypoplastic cerebellum, and abnormal gyral pattern.

The brain anomalies that included abnormal sulcation patterns were previously described in TAF13 deficiency [ 8 ] and the progressive atrophy and abnormal CC seen on fetal MRI are like those described in patients with TAF8 pathogenic genetic variants [ 1 ]. These brain abnormalities were proven on pathological examination of the last 20 WG fetuses that underwent brain autopsy, with very similar findings.

Although ultra-rare worldwide, we have identified three couples within the same small village where both parents are carriers of the same pathogenic genetic variant. The brain malformations seen in the homozygous fetuses, the lack of TAF8 determined in one affected fetus, and the segregation analysis in the extended family supports the pathogenicity of this novel genetic variant. To explore the possibility that affected sibs may carry additional loss of function (LOF) variants related to patients’ manifestations, exome sequencing studies were performed in two fetuses, at different laboratories. The results confirmed that at least two fetuses from the four affected had no other LOF genetic variant, nor were any other pathogenic/likely pathogenic variants identified. Moreover, in the context of a very homogenous pre-natal phenotype in all four fetuses, the same genetic variant was identified in all and the protein studies showed the loss of this important protein. One can safely say that this change in TAF8 is causing the phenotype reported here.

Finally, we have identified a genetic island for TAF8 deficiency with a carrier frequency of 2.6% for this founder genetic variant, in this single village of Muslim Arab residents.

In Israel, this high carrier frequency justifies population screening followed by pre-natal or pre-gestational diagnosis for couples at risk of having a baby with this devastating disease.

Pre-natal diagnosis and counseling are crucial, as sonographic findings may be diagnosed late, in the second trimester. In all our cases, the brain was normal and adequate to fetal age in the early scan (around 15–16 WG). Cerebellar hypoplasia was the first clue to the development of this pathology, followed by CC dysgenesis and brain atrophy that were not detected before 19–20 WG. Our genetic findings enabled us to perform chorionic villus sampling in patient V6 in her present pregnancy, which revealed a non-homozygous fetus. Pregnancy is ongoing and will be followed carefully by neuro-sonography exams. The TAF8 mechanism of action on the developing brain is not yet known.

TFIID complex is a general transcription factor for RNA polymerase II. This complex contains several subunits such as TAF1, TAF2, TAF6, and TAF13 that were previously reported as causing monogenic neuro‐developmental disorders in humans [ 6 ]. In general, pathogenic variants in these genes as a group are associated with global developmental delay and dysmorphic features. Intellectual disability is the rule and all patients reported thus far were diagnosed postnatally [ 7 , 8 ]. We now report, for the first time, pre-natal diagnosis for a TAF-related disorder caused by one of the crucial components in the TFIID complex—TAF8, known to affect the expression of many genes during the development of the central nervous system and crucial for the survival of neurons in the developing brain [ 13 ]. We have documented significant brain malformations in all four fetuses by fetal brain US including cerebellar hypoplasia, partial CC agenesis, and brain atrophy. Abnormal MRI findings were reported in other TAF -associated disorders and include mild-delayed myelination, discrete frontal pachygyria, and deep sulci of the cerebrum [ 8 ]. We hypothesize that the difference between the US imaging findings of those disorders and the TAF8 deficiency-affected fetuses and children might be due to the variable role of the TFIID subunits during the development of different brain regions [ 13 , 14 , 15 ].

Studies have also shown that TAF8 is important for mouse embryonic stem cell survival [ 10 ], evidence that might explain the phenomenon of restricted growth seen in the TAF8-deficient fetuses as well as the clinical manifestations which include post-natal growth retardation seen in patients with different TAF- associated disorders [ 6 ].

We studied the level of TAF8 protein expression in the whole brain of WT mice in embryonic and post-delivery stages and found that at embryonic stage 15E, TAF8 levels were significantly higher than in the NB and 4D stages. Our data support previous findings that showed a high level of TAF8 protein expression in the mice brain and mainly in the cortex at embryonic stages [ 13 ]. To the best of our knowledge, this is the first documentation in the literature for TAF8 expression patterns during different development stages of the brain showing that the main time of expression is in utero. Here we document that TAF8 has high expression levels in the brain of WT mice during the early embryonic development stage compared to the NB and early post-natal periods. These data support the significant role of TAF8 in early embryonic development of the brain.

Moreover, the four affected fetuses also presented moderate-to-severe restricted growth, suggesting that TAF8 is an important factor in fetal growth apart from its significance in brain development.

Our findings contribute to the understanding of TAF8’s role in the early development of the fetal brain and in fetal growth in general. Our report suggests that TAF8’s absence might affect the transcriptome and proteome. Furthermore, we show that pre-natal diagnosis for TFIID complex-related disorders is possible using fetal neuro-sonography techniques followed by exome sequencing, to diagnose severely affected fetuses with TAF-associated disorders as early as possible. The TAF subunit genes should be added to gene panels studied for brain anomalies. Finally, further investigation into TAF8’s function and mechanism of action could yield insights into their crucial biological and developmental roles in normal fetal development and possibly pave the way to potential therapeutic interventions for these devastating neurodevelopmental disorders.

Data availability

Additional data will be supplied upon reasonable request to the corresponding author. The details of the novel genetic variant reported here were disclosed to Clinvar. Clinvar SUB13973570.

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Acknowledgements

We would like to thank Prof. Evan Elliot from the Azrieli Faculty of Medicine, Bar Ilan University, Safed, for providing us with the brains of fetal and newborn mice. We would like to thank Moshit Shaked for her help with coordinating the ascertainment of the fetal samples for all studies. We would like to thank the families who participated in this study. We would like to thank Tobie Kuritsky for English editing and preparing the manuscript for submission.

This work was funded by an internal medical center research budget. Open access funding provided by Bar-Ilan University.

Author information

These authors contributed equally: Golan Nadav, Marwan Odeh.

Authors and Affiliations

Institute of Human Genetics, Galilee Medical Center, Nahariya, Israel

Golan Nadav, Aviv Mesika, Yael Abarbanel Har-Tal, Raghad Jeris Khoury, Limor Kalfon & Tzipora C. Falik-Zaccai

The Unit for Ob/Gyn Ultrasound, Galilee Medical Center, Nahariya, Israel

Marwan Odeh & Inshirah Sgayer

Azrieli Faculty of Medicine, Bar Ilan University, Safed, Israel

Marwan Odeh, Aviv Mesika, Inshirah Sgayer & Tzipora C. Falik-Zaccai

MRI Imaging Unit, Galilee Medical Center, Nahariya, Israel

Moshe Goldfeld

Department of Pathology, Galilee Medical Center, Nahariya, Israel

Tania Zalatkin & Alejandro Livoff

Department of Radiology, Division of Pediatric Radiology, Dana Children’s Hospital, Tel Aviv Sourasky Medical Center and Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel

Liat Ben-Sira

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Contributions

GN: designed and performed the executed experiments, prepared figures, and wrote the first draft. MO: identification of the three families, pre-natal US analysis, and follow-up. YAH: collection of the clinical data of four pregnancies, genetic counseling, follow-up, connecting between the three couples, participated in writing the original draft. LB-S: analysis of fetal brain MRIs, participated in writing the first draft and review of the final manuscript. MG: fetal whole body MRI analysis. TZ: fetal pathological autopsy and analysis of brain pathology, participated in writing the first draft. AL: fetal pathological autopsy and analysis of brain pathology, participated in writing the first draft. RJK: molecular analysis of fetuses and parents, population screening. AM: executed expression experiments in humans and mice, participated in preparing the original and final draft. LK: supervised molecular studies, participated in preparing figures. TCF-Z: conceived and designed the project, supervised the experiments, and wrote the final paper.

Corresponding author

Correspondence to Tzipora C. Falik-Zaccai .

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The guardians of the affected individuals signed an informed consent form for participation in this study. The Israeli Supreme Helsinki Committee approved the study (GMC- 991110, NHR-58-17).

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Nadav, G., Odeh, M., Mesika, A. et al. Novel fetal phenotype of TAF8 deficiency. Eur J Hum Genet (2024). https://doi.org/10.1038/s41431-024-01679-8

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Received : 15 January 2024

Revised : 30 May 2024

Accepted : 01 August 2024

Published : 21 August 2024

DOI : https://doi.org/10.1038/s41431-024-01679-8

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Toward the end of pregnancy, the fetus moves into position for birth. Normally, the position of a fetus is facing rearward (toward the woman’s back) with the face and body angled to one side and the neck flexed, and presentation is head first.