Birth Defects

Question 1

Child with low set ears, micrognathia, wide set eyes, flattened nasal bridge, oliguria

Answer 1

Potter’s sequence, malfunctioning kidney causing oligohydramnios

Question 2

Downs syndrome screening

Answer 2

Incr Inhibin A
Incr BhCG
Decr AFP

Question 3

Edwards syndrome

Answer 3

PRINCE
Prominent forehead
Rocker bottom feet
Intellectual disability
Non disjunction 
Clenched fists
Ears low

Question 4

Patau Syndrome

Answer 4

5 Ps:
Palate/ cleft lip
HoloProsencephaly
Polydactily 
PKD!!
Coloboma

Question 5

DiGeorge Syndrome

Answer 5

CATCH - 22
Conotruncal abnormalities (truncus arteriosus #1, interrupted aortic arch, TOF)
Abnormal facies
Thymic aplasia/ hypoplasia
Craniofacial abnormalities (cleft lip etc)
Hypocalcemia/ hypoparathyroidism

Question 6

DiGeorge syndrome suspected, next step?

Answer 6

Echocardiography, serum calcium levels (esp tremulous infant)
Thymic aplasia= fungal/ virus infections recurrent
Low t cells in blood.

Question 7

Turner’s Syndrome cardiac defects + urinary

Answer 7

Coarctation of aorta
BICUSPID aortic valve
Horseshoe kidney
*think wide spaced nipples- aorta is WIDEST vessel of heart