User: Guest  Login
Title:

Lessons from exome sequencing in prenatally diagnosed heart defects: A basis for prenatal testing.

Document type:
Journal Article
Author(s):
Westphal, Dominik S; Leszinski, Gloria S; Rieger-Fackeldey, Esther; Graf, Elisabeth; Weirich, Gregor; Meitinger, Thomas; Ostermayer, Eva; Oberhoffer, Renate; Wagner, Matias
Abstract:
Congenital heart defects (CHDs) are the most common birth defect with 30%-40% being explained by genetic aberrations. With next generation sequencing becoming widely available, we sought to evaluate the clinical utility of exome sequencing (ES) in prenatally diagnosed CHD. We retrospectively analyzed the diagnostic yield as well as non-conclusive and incidental findings in 30 cases with prenatally diagnosed CHDs using ES, mostly as parent-child trios. A genetic diagnosis was established in 20% (...     »
Journal title abbreviation:
Clin Genet
Year:
2019
Journal volume:
95
Journal issue:
5
Pages contribution:
582-589
Language:
eng
Fulltext / DOI:
doi:10.1111/cge.13536
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/30868567
Print-ISSN:
0009-9163
TUM Institution:
Institut für Allgemeine Pathologie und Pathologische Anatomie; Institut für Humangenetik; Klinik für Kinderkardiologie und angeborene Herzfehler (Prof. Hess); Klinik und Poliklinik für Kinderheilkunde und Jugendmedizin
 BibTeX