Table 2.

Genetic testing protocol for patients with congenital heart disease

Patient features	Testing recommendations
Features suggestive of Trisomy 13 or Trisomy 18	STAT FISH for aneuploidy (13, 18, 21, X and Y)
Features suggestive of Monosomy X or Trisomy 21	Karyotype with reflex to chromosomal microarray if normal
Heterotaxy	Chromosomal microarray and heterotaxy panel that includes primary ciliary dyskinesia genes
Hypoplastic left heart syndrome	Chromosomal microarray and MYH6 sequencing
Other significant cardiovascular malformations	Chromosomal microarray

When possible involvement of a medical geneticist is encouraged for all patients. For patients with possible Trisomy 13 or Trisomy 18, we recommend ordering FISH for aneuploidy with a rapid turnaround, as these diagnoses critically alter care options. For patients with Trisomy 21 or possible Turner Syndrome, we recommend a karyotype with reflexive addition of chromosomal microarray testing in the event the karyotype is nondiagnostic. The majority of patients should have first-line testing with chromosomal microarray. If a prenatal microarray has been completed, the resolution of that delay should be noted in that chart and repeated if not adequate. Patients with heterotaxy should undergo molecular assessment for primary ciliary dyskinesia. The primary ciliary dyskinesia genes we currently assess in patients with heterotaxy include ARMC4, C21orf59, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, DNAAF1, DNAAF2, DNAAF3, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH8, DNAI1, DNAI2, DNAL1, DRC1, DYX1C1, GAS8, LRRC6, MCIDAS, NME8, RSPH1, RSPH3, RSPH4A, RSPH9, SPAG1 and ZMYND10. Patients with hypoplastic left heart syndrome should undergo MYH6 sequencing.

FISH, fluorescence in-situ hybridization.