Approach to Fetal

Anomalies
Dr. Omar Al-Tal

Presented By :
Pelaar Khoury
Hadeel Bani Issa

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 Congenital anomalies

Is a term that describe structural, behavioral,

functional, and metabolic disorders present at
birth or develops later in life.

Congenital malformations are a major cause of

infant morbidity and mortality in the world.

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Birth defects are the leading
cause of infant mortality,
accounting for
approximately 21% of the
infant deaths.
Epidemiology
Major congenital
abnormality occur in 2 - 3%
of live births.
This incidence increases in
pre-term and small for
gestational age infants
Minor congenital
abnormality occur in 15%
of live born infants.
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Malformation:-

o It`s a primary error results in complete or partial

absence of a structure or alterations of its normal
configuration.
o Occur during organogenesis.
o Mostly during the first 8 weeks of gestation.

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 Deformation:-

o Late change in previously normal structure.

o It results from mechanical forces on the fetus which

is either extrinsic or intrinsic causes.
o Extrinsic causes  small maternal stature,
oligohydramnios, uterine malformation.
o Intrinsic factors  neuromuscular disease.(club-feet)
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Why prenatal diagnosis is important?

 May treat in utero

 To transfer certain cases in utero to deliver in a

tertiary care center

 The option of termination

 To anticipate mechanical obstruction in labor

 To avoid unnecessary operative delivery

 To prevent maternal psychological trauma

Etiology of Congenital Malformations

Unknown - 60%

Multifactorial - 20%

Single-gene - 7.5%

Chromosomal - 6%

Infections - 2-3%

Maternal medical disorders - 1.5%

Maternal medication - 1-2% 7

Systems commonly involved
“over all: 30/1000”

• CNS => 10/1000

• CVS => 8/1000

• Renal => 4/1000

• Limbs => 2/1000

• Others => 6/1000

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 Multifactorial

 NTD.

 Abdominal wall defect

 Uropathy

 Cleft lip & palate.

 Congenital heart disease

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 Single gene disorders

Autosomal Autosomal X - linked

Dominant Recessive Recessive
• Two affected genes • Carried on X
• Only one abnormal must be present for the chromosomes
gene is necessary for disease to manifest.
disease manifestation. • Inherited through the
• Consanguinity increases mother.
• E.g. Neurofibromatosis, the chance.
tuberous sclerosis, • Cannot have male to
Marfan syndrome, • E.g. sickle cell anemia, male transmission.
Achondroplasia. cystic fibrosis,
congenital adrenal • e.g. fragile X (the 2nd
hyperplasia, wilson most common form of
disease, Tay-Sachs mental retardation after
disease. Down syndrome) also
G6PD, Duchenne
muscular dystrophy.
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 Chromosomal Disorders

Defect is either in :

Number: non disjunction.

Structure: translocation

Down syndrome is the most common of the chromosomal

disorders and the commonest cause of mental retardation
in children.

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 CLINICAL APPROACH

When to suspect congenital

abnormalities?

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 History

1. Maternal age if above 35 years.

2. Previous history of child with birth defect or mental
retardation.
3. Previous history of child died in the neonatal period.
4. Recurrent abortion in the first trimester.
5. Parental consanguinity.
6. Exposure to infections or excessive medications.
7. Medical disorders such as DM, epilepsy.
8. Family history of birth defect, chromosomal
abnormality, or single gene defect.

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 Obstetric examination:

• Fundal height (normal, SGA, …).

• Fetal malpresentations.

• Abnormal fetal heart.

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 Investigations:

Screening Tests:
1. Biochemical screening tests.
2. Detailed anomaly scan (19-22 weeks)

Diagnostic Tests:
3. Amniocentesis.
4. Chorionic villus sampling .
5. Cordocentesis 15
 Serum screen marker test

1. Alpha fetoprotein: It is a glycoprotein produced by the

fetal yolk sac and fetal liver (16-18 GA).
 Elevated levels found in: wrong dating, multiple
gestation, fetal demise, liver tumor. NTD, ventral
wall defect.

2. HCG

3. Inhibin A

4. Pregnancy specific proteins (e.g. PAPP-A) 16

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Transabdominal amniocentesis

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Transabdominal chorionic villus sampling
procedure

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Down syndrome

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 It is the most common chromosomal disorder.

It is the most common cause of congenital mental

retardation.

The overall risk is 1:650 for all maternal ages.

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incidence Women age

1:1200 20-24

1:900 25-29

1:650 30-34

1:250 35

1:35 40

1:25 45

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 Etiology

Meiotic Unblanced
nondisjunction translocation

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Clinical features

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Prenatal Diagnosis

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History :
• Mother age.
• Previous history of down .
• Recurrent abortion.
• Family history.

Examination:
• Small sized fetus.

Investigation:
 Abnormal serum markes.
 Ultrasound findings
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An ultrasound image of a fetus showing the
nuchal translucency

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Duodenal atresia , double bubble sign

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Serum Markers

B-hcg : ELEVATED

inhibin-A : ELEVATED

PAPP-A : DECREASED

Maternal aFP : DECREASED

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 Neural Tube Defects
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NTDs are caused by incomplete closure of the neural tube during neurulation,
which takes place during the 3rd and 4th week after conception.

Cranial
-Anencephaly Spinal(Spina Bifida)
- Encephalocele Aperta
-Myelocele
-Myelomeningiocele
Occulta
m m on
C o
Most
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 Anencephaly

- Failure of development
of most of the cranium
and brain.

- Stillborn or dies shortly

after birth.

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Encephalocele
Extrusion of
brain and
meninges
through a
midline skull
defect. Can be
corrected
surgically but
often associated
cerebral
malformations
exist.
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 - Aperta:

- A cystic tumor
Spina bifida in the lumbosacral
-Occulta: region.

- The defect is - When the

covered by skin. herniation sac
contains only CSF
 meningocele 
- Not diagnosed good prognosis .
prenatally.
- If neural tissue
is present 
meningomyelocele,
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 bad prognosis.
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36
 - MSAFP (Maternal Serum Alpha-
fetoprotein ) is primarily used from
16-18 weeks (highly sensitive and
NTD
specific )
Screening
- If elevated  ultrasound (to make
sure it’s not because of multiple
gestation\fetal demise\wrong date)
if truly high  amniocentesis to
determine the amniotic fluid AFP
level and to measure AChE.
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NTD Presentation

IUGR.

Malpresentation

Polyhydramnios

Post-term pregnancy

 Decreased fetal movements

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How to prevent ?
• Folate supplementation in pregnancy
• 400–800 μg/day for all women planning or
capable of pregnancy
• At least 4 weeks prior to conception
• Intake should be continued through
the first trimester.

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Abdominal wall defect

• Gastroschisis and omphalocele are the two

most common types of ventral wall defect .

• Reported with nearly equal frequency in 1 in

4000 live birth.

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 Types of ventral wall defects include :-

1. Gastroschisis .

2. Omphalocele
• With extracorporeal liver.
• With intracorporeal liver.

3. Cleft or absent sternum.

4. Ectopia cordis.

5. Bladder exstrophy.
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Cloacal exstrophy
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Ectopia Cordis
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omphalocele with extracorporeal liver

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omphalocele with intracorporeal liver

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Sonographic of omphalocele

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Gastroschisis
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Sonographic of gastroschisis

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Congenital Heart Disease

-10% associated with other defects or part of a

syndrome. They include:

-Ventricular Septal Defect.

-Atrial Septal Defect.

- Patent Ductus Arteriosus.

- Tetralogy of Fallot.

- Coarctation of the aorta.

- Transposition of the Great Arteries. 50

 Congenital diaphragmatic hernia

An abnormal opening in the

diaphragm, allows part of the
abdominal organs to migrate
into the Thoracic cavity

 Lung Hypoplasia

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Thank you

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