Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

Lord, Jenny; McMullan, Dominic; Y. Eberhardt, Ruth; Rinck, Gabriele; Hamilton, Susan; Quinlan-Jones, E; Prigmore, Elena; Keelagher, Rebecca; Best, Sunayna; K. Carey, Georgina; Mellis, Rhiannon; Robart, Sarah; Berry, Ian; Chandler, Kate; Cilliers, Deirdre; Cresswell, Lara; L. Edwards, Sandra; Gardiner, Carol; Henderson, Alex; Holden, Simon; Homfray, Tessa; Lester, Tracy; Lewis, Rebecca; Newbury‐Ecob, Ruth; Prescott, Katrina; Quarrell, Oliver; Ramsden, Simon; Roberts, Eileen; Tapon, Dagmar; Tooley, Madeleine; Vasudevan, Pradeep; Weber, Astrid; Wellesley, Diana; Westwood, Paul; White, Helen; Parker, Michael; Williams, Denise; Jenkins, Lucy; H. Scott, Richard; D. Kilby, Mark; S. Chitty, Lyn; E. Hurles, Matthew; R. Maher, Eamonn; S. Bateman, Mark; Berry, Ian; Best, Sunayna; Campbell, Carolyn; Campbell, Jenni; K. Carey, Georgina; Chandler, Kate; S. Chitty, Lyn; Cilliers, Deirdre; Cohen, Kelly; Collingwood, Emma; Constantinou, P.; Cresswell, Lara; Delmege, Catherine; Y. Eberhardt, Ruth; L. Edwards, Sandra; J. Ellis, Richard; Evans, Jerry; R. Everett, Thomas; F Pinto, Clare; Forrester, Natalie; Fowler, Emma; Gardiner, Carol; Hamilton, Susan; Healey, Karen; Henderson, Alex; Holden, Simon; Homfray, Tessa; Hudson, Rebecca; E. Hurles, Matthew; Jenkins, Lucy; Keelagher, Rebecca; D. Kilby, Mark; Lester, Tracey; Lewis, Rebecca; Lord, Jenny; R. Maher, Eamonn; Marton, Tamás; McMullan, Dominic; Mehta, Sarju; Mellis, Rhiannon; Newbury‐Ecob, Ruth; Park, Soo‐Mi; Parker, Michael; Prescott, Katrina; Prigmore, Elena; Quarrell, Oliver; Quinlan-Jones, E; Ramsden, Simon; Rinck, Gabriele; Robart, Sarah; Roberts, Eileen; Rowland, Jayne; H. Scott, Richard; Steer, James; Tapon, Dagmar; Taylor, Emma; Tooley, Madeleine; Vasudevan, Pradeep; Weber, Astrid; Wellesley, Diana; Westwood, Paul; White, Helen; Williams, Denise; Wilson, Elizabeth

doi:10.1016/s0140-6736(18)31940-8

Public

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

Published in The Lancet • Feb 1, 2019

Authors:

Jenny Lord

Dominic McMullan

Ruth Y. Eberhardt

Abstract

BACKGROUND: Fetal structural anomalies, which are detected by ultrasonography, have a range of genetic causes, including chromosomal aneuploidy, copy number variations (CNVs; which are detectable by chromosomal microarrays), and pathogenic sequence variants in developmental genes. Testing for aneupl...

Subject

Exome sequencing

Copy-number variation

Aneuploidy

Research Assistant

AI chat, annotations, notes & similar papers

Finding related papers...

Discussions

(0)

No comments yet

Be the first to share your thoughts!