학술논문
Beyond Diagnostic Yield: Prenatal Exome Sequencing Results in Maternal, Neonatal, and Familial Clinical Management Changes
Document Type
Academic Journal
Source
Obstetrical & Gynecological Survey. Nov 01, 2021 76(11):663-664
Subject
Language
English
ISSN
0029-7828
Abstract
(Abstracted from Genet Med 2021;23:909–917)At present, it is recommended that chromosomal microarray (CMA) be offered in cases of fetal congenital anomalies. However, 60% to 70% of these cases do not receive a genetic diagnosis following microarray, and exome sequencing is being used more frequently in these cases with a reported diagnostic yield of approximately 10% to 30%.