The prevalence of genetic diagnoses in fetuses with severe congenital heart defects.

Amber E L van NisselrooijMalou A LugthartSally-Ann ClurIngeborg H LinskensEva PajkrtLukas A RammelooLieke RozendaalNico A BlomJan M M van LithAlida C KnegtMariëtte J V HofferEmmelien AtenGijs W E SantenMonique C Haak

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)

In case of normal CMA results, parents should be offered exome sequencing sequentially, if time allows for it, especially if the CHD is accompanied by other structural malformations due to the large variety in genetic syndromes.

Keyphrases

copy number
genome wide
risk factors
single cell
early onset