Newborn screening programs — Flashcards

Flashcard 1: What congenital renal defect may cause portal hypertension in an infant?_____

Answer: Autosomal recessive PKD

Flashcard 2: Treatment for medium chain acyl-CoA dehydrogenase deficiency includes avoiding _____

Answer: fasting

Flashcard 3: What newborn screening blood test is used to screen for cystic fibrosis? _____

Answer: Immunoreactive trypsinogen

Flashcard 4: Hemolytic disease of the newborn is also known as _____

Answer: Erythroblastosis fetalis

Flashcard 5: What is used for prevention of RSV (respiratory syncytial virus) in premature infants?_____

Answer: Palivizumab

Flashcard 6: _____ is a form of congenital hypothyroidism that presents with developmental delay, protruding umbilicus, pot belly, and protruding tongue.

Answer: Cretinism

Flashcard 7: Hunter's syndrome

Answer:

Extra: accumulation of heparan/dermatan sulfatemild: developmental delay, gargoylism, airway obstruction, hepatosplenomegaly + aggressive behavior - corneal clouding XRiduronate sulfatase

Flashcard 8: Hurler's syndrome

Answer:

Extra: accumulation of heparan/dermatan sulfatedevelopmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegalyARα-L-iduronidase

Flashcard 9: What manifestation of 22q11 deletion syndrome define velocardiofacial syndrome?

Answer: cardiac, palate, facial defects

Flashcard 10: Williams syndrome

Answer:

Extra: elfin facies, mild retardation, hyper-verbal, hyper-friendly, diverse cardiovascular problemshypercalcemia7q microdeletion (including elastin gene)