Clinical Genetics - General = Cardiac (TRANSFERRED)

Question 1

Reference: Genetics residents in-training examination – Fall 2020

Tetralogy of Fallot is detected on anatomy scan at 22 weeks’ gestation. No other anomalies are found, the patient is healthy and the family history is non-contributory. The patient had a normal first trimester screen. The patient is appropriately referred to Genetics to discuss the next steps.

List 3 tests the patient is eligible for given this finding.

Answer 1

NIPT
QF-PCR/FISH (RAD)
Array
+/- panel