학술논문
Prenatal Exome Sequencing Analysis in Fetal Structural Anomalies Detected by Ultrasonography (PAGE): A Cohort Study
Document Type
Academic Journal
Author
Lord, Jenny; McMullan, Dominic J.; Eberhardt, Ruth Y.; Rinck, Gabriele; Hamilton, Susan J.; Quinlan-Jones, Elizabeth; Prigmore, Elena; Keelagher, Rebecca; Best, Sunayna K.; Carey, Georgina K.; Mellis, Rhiannon; Robart, Sarah; Berry, Ian R.; Chandler, Kate E.; Cilliers, Deirdre; Cresswell, Lara; Edwards, Sandra L.; Gardiner, Carol; Henderson, Alex; Holden, Simon T.; Homfray, Tessa; Lester, Tracy; Lewis, Rebecca A.; Newbury-Ecob, Ruth; Prescott, Katrina; Quarrell, Oliver W.; Ramsden, Simon C.; Roberts, Eileen; Tapon, Dagmar; Tooley, Madeleine J.; Vasudevan, Pradeep C.; Weber, Astrid P.; Wellesley, Diana G.; Westwood, Paul; White, Helen; Parker, Michael; Williams, Denise; Jenkins, Lucy; Scott, Richard H.; Kilby, Mark D.; Chitty, Lyn S.; Hurles, Matthew E.; Maher, Eamonn R.
Source
Obstetrical & Gynecological Survey. Jul 01, 2019 74(7):394-396
Subject
Language
English
ISSN
0029-7828
Abstract
(Abstracted from Lancet 2019;393:747–757)Fetal structural anomalies, detected by ultrasonography, have a range of genetic causes, including chromosomal aneuploidy, copy number variations (CNVs), and pathogenic sequence variants in developmental genes. Conventional prenatal cytogenetic analysis was historically the first-line method to investigate these anomalies, but chromosomal microarray analysis has been adopted more recently, as this test is able to detect smaller, but significant, CNVs.