Congenital Abnormalities

Question 1

What are the major risk factors for having a child with chromosomal abnormalities?

Answer 1

Maternal age increased risk in over 30's
TORCH infections
Toxins (smoking, alcohol, medications)
Hyperglycaemia in early pregnancy 
Dietary deficiencies (folic acid)

Question 2

What is downs syndrome?

Answer 2

Trisomy 21

The syndrome is characterised by dysmorphic features, learning difficulties and a host of structural abnormalities.

Question 3

What are the dysmorphic in downs syndrome?

Answer 3

Face:
Brachycephaly.
Prominent epicanthic folds.
Ring of iris speckles - Brushfield's spots.
Ears set low.
Flat nasal bridge.

Loose skin on neck.

Hands and feet:
Single palmar crease
Wide gap between hallux and second toe

Question 4

What are the associated conditions with downs syndrome?

Answer 4

Congenital heart defects:
VSD (is most common)
AVSD (extremely rare in children without downs therefore if AVSD is present on fetal scans downs until proven otherwise)

Ophthalmology:
Cataracts
Refractive errors
Strabismus

Gastro: 
Duodenal atresia
Oesophageal atresia
Hirschsprung's
Meckel's diverticulum
Coeliac

Endocrine:
Hypothyroidism

MSK:
Hyper-reflexive
Scoliosis
Foot deformities

Haematological:
Increased risk of infections
Higher incidence of AML and ALL

Question 5

What is the CHARGE syndrome?

Answer 5

A genetic syndrome in which the acronym describes the unusual congenital abnormalities that are often seen.

Coloboma of the eye (hole in a structure of the eye)
Heart defects
Atresia of the nasal choanae
Retardation of growth
Genito-urinary abnormalities
Ear abnormalities and deafness

Question 6

What is the VACTERAL syndrome.

Answer 6

A genetic syndrome in which the acronym describes the unusual congenital abnormalities that are often seen.

It is more commonly associated with diabetic mothers and trisomy 18.

Vertebral defects (hypoplastic vertebrae/scoliosis)
Anal atresia
Cardiac abnormalities
Tracheoesophageal fistula
Esophageal atresia
Renal anomalies
Limb defects

Many will have a normal development.

Incidence 16 per 100000

Question 7

What is Patau’s syndrome?

Answer 7

Trisomy 13

It is the most rare and severe of the trisomies.

Characterised by:
• IUGR

• Congenital heart defects

• Holoprosencephaly (brain doesn’t separate into 2 halves)
• Neural tube defects
• Severe learning disability
• Small eyes (microphthalmia)
• Scalp defects
• Gastrointestinal and urogenital malformations
• Polydactyly

Question 8

How long do children with Patau’s survive and what is the usual cause of death?

Answer 8

Mean survival = 2.5 days

Many do not survive to birth.

Cause of death is often CHD and pneumonia.

Question 9

What is the clinical spectrum of fetal alcohol syndrome?

Answer 9

Syndrome consisting of 3 main domains but may cause other abnormalities:

• Facial abnormalities (especially in the mid-facial area)
• IUGR and failure to catch up
• Learning disabilities and impulsiveness.

Alcohol can cause the above to a varying degree as well as:

• Cardiac defects
• MSK and urogenital defects
• Delirium tremens due to dependence

Question 10

What are the dysmorphic features seen in fetal alcohol syndrome?

Answer 10

• Flat philtrum
• Micrognathia (small jaw)
• Thin upper lip
• Posterior rotation of ears
• Microcephaly
• Microphthalmia