Congenital Anomalies and NTD

CONGENITAL ANOMALIES &
NEURAL TUBE DEFECTS
WG CDR NAILA
• Almost 5% of newborns have a congenital
malformation.
• In many cases these malformations are minor
and do not impact on either the short‐ or
long‐term outcome for the individual.
Timing and development of fetal malformations
• The crucial morphogenetic window during

which the fetus is particularly susceptible is
the period of blastogenesis, which extends
throughout the first 4 weeks of development
(from fertilization until the end of the
gastrulation stage, days 27–28 post
conception)
• Because the fetus is less susceptible to
damage when the developmental process of
the majority of organs has been completed,
the most common anomalies associated with
teratogenic exposures during the fetal period
are:
- fetal growth restriction (IUGR)
-mild abnormalities of phenotype (epicanthic
folds, clinodactyly, etc).
• The fetus is most vulnerable in the first 4
weeks of life.
• Many maternal conditions, drugs and
infections can cause structural malformations
in specific organ systems.
• Ultrasound is the usual modality of imaging in
pregnancy and detects the vast majority of
anomalies.
Fetal anomalies in specific organ systems
1.Cardiovascular system anomalies
• The structural and functional cardiac

abnormalities are some of the commonest
disorders with the incidence of congenital
heart disease estimated at 6–12 per 1000 live
births, at least half of which should be
detectable before birth.
•
• Common maternal risk factors include pre‐
gestational diabetes mellitus, phenylketonuria, drug
exposure, maternal autoimmune conditions such as
systemic lupus erythromatosus (SLE) and infections
such as rubella.
• Other risk factors are a history of maternal or
paternal congenital heart disease, aneuploidy,
genetic syndromes, twin–twin transfusion syndrome
(particularly in the recipient) or in association with
other structural malformations or tumours.
• Aortic stenosis and hypoplastic left heart
syndrome
• Pulmonary stenosis and hypoplastic right
heart syndrome
• Atrioventricular septal defect
• Tetralogy of Fallot
Aortic stenosis
Tetrology of Fallot
Fetal echocardiography
• Fetal echocardiography should be considered for the following.
• First‐degree relative with congenital heart disease:
one previous sibling affected, 2–4% risk
two or more previous siblings affected, 10% risk
mother affected, 5–12% risk
father affected, 1–3% risk.
• Maternal insulin‐dependent diabetes: 3–4% risk
• Drug therapy (lithium, 10% risk) or epilepsy (4–7% risk with monotherapy, 15%
risk with polytherapy).
• Monochorionic twins: 4% risk.
Increased nuchal translucency ≥3.5 mm: 3% risk, rising to 23% risk if >5.5 mm.
• High‐risk structural anomalies: tracheo‐oesophageal fistula, 15–40% risk;
duodenal atresia, 17% risk; omphalocele, 20–30% risk; and diaphragmatic
hernia, 10–20% risk.
2. Central nervous system anomalies
• Agenesis of the corpus callosum

• Dandy–Walker malformation
• Holoprosencephaly
• Ventriculomegaly
• Neural tube defects
NEURAL TUBE DEFECTS
NEURAL TUBE DEFECTS
• Most neural tube defects are multifactorial in origin, with
a genetic component that interacts with a number of
environmental risk factors.
• The commonest forms of neural tube defect are referred
to as ‘open’, where the involved neural tissues are
exposed to the body surface. These include anencephaly,
craniorachischisis and myelomeningocele.
• Between 2 and 16% of isolated open neural tube defects
occur in association with aneuploidy or a single gene
defect. If additional structural anomalies are present, the
risk may be as high as 24%.
• Most cases of neural tube defects are
multifactorial in origin. Anticonvulsant use,
mutations in the MTHFR
(methylenetetrahydrofolate reductase) gene,
maternal hyperthermia, obesity, diabetes mellitus
and a previous family history are all risk factors.
• Recurrence in any subsequent pregnancy can be
significantly reduced by taking high‐dose folic acid
(4–5 mg).
• Some neural tube defects are lethal
(anencephaly, craniorachischisis) whereas
others are compatible with long‐term survival.
• However, there is risk of significant morbidity,

including mobility issues and bladder and
bowel dysfunction, and counselling by a
neurologist is essential.
• Prenatal surgical closure of selected cases of
myelomeningocele is now an option, with evidence of
significant reduction in the need for ventriculo‐peritoneal
shunting compared with standard postnatal closure.
• In addition, prenatal surgery improves reversal of hindbrain
herniation as well as ambulation by 30 months.
• However, prenatal surgical intervention is associated with
significantly higher rates of oligohydramnios and
chorioamniotic separation, as well as spontaneous
membrane rupture and preterm delivery.
3. Gastrointestinal tract anomalies
• Duodenal atresia
• Meconium ileus/peritonitis
Duodenal atresia
4. Abdominal wall defects
• Omphalocele (exomphalos)
• Gastroschisis
gastroshisis
Omphaloceole
5. Genitourinary tract anomalies
• Renal agenesis
• Multicystic dysplastic kidney
• Lower urinary tract obstruction
•
Multicystic dysplastic kidney
6. Head and neck anomalies
• Cleft lip and palate
• Cystic hygroma
Cleft lip and palate
Cystic hygroma
7. Thoracic anomalies
• Diaphragmatic hernia
• Congenital pulmonary airway malformation
• Pleural effusions
Diaphragmatic hernia
8. Fetal tumours
• Sacrococcygeal teratoma(60%)
• Gonada teratomas (20%)
• Thoraco abdominal tearatomas(15%)
Sacrococcygeal teratoma
9. Fetal Hydrops

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CONGENITAL ANOMALIES &

NEURAL TUBE DEFECTS

• The crucial morphogenetic window during

• The structural and functional cardiac

• Agenesis of the corpus callosum

• However, there is risk of significant morbidity,

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