In:
Prenatal Diagnosis, Wiley, Vol. 42, No. 3 ( 2022-03), p. 373-386
Abstract:
What's already known about this topic? Congenital diaphragmatic hernia (CDH) is a life‐threatening birth defect that is often identified prenatally. A deeper understanding of the genetic causes of CDH, coupled with advances in genetic testing, have made it possible to obtain a molecular diagnosis in an increasing percentage of fetuses with CDH. Practitioners must be prepared to help individuals and families make informed decisions regarding genetic testing and to request the most appropriate genetic tests What does this review add? We provide a review of chromosomal abnormalities, copy number variants (CNVs), and genes that are clearly associated with the development of CDH in humans. We describe current genetic testing modalities so that practitioners can select the most appropriate genetic test(s). To aid practitioners, we also provide a review of topics that should be discussed with individuals and families so that they can make informed decisions regarding genetic testing
Type of Medium:
Online Resource
ISSN:
0197-3851
,
1097-0223
Language:
English
Publisher:
Wiley
Publication Date:
2022
detail.hit.zdb_id:
1491217-X
