Promises, pitfalls and practicalities of prenatal whole exome sequencing

Author:

Best Sunayna1,Wou Karen2,Vora Neeta3,Van der Veyver Ignatia B.4,Wapner Ronald2,Chitty Lyn S.15ORCID

Affiliation:

1. North East Thames Regional Genetics Service; Great Ormond Street Hospital for Children NHS Foundation Trust; London UK

2. Department of Obstetrics and Gynecology, Division of Reproductive Genetics; Columbia University; New York NY USA

3. Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine; University of North Carolina at Chapel Hill; Chapel Hill NC USA

4. Departments of Obstetrics and Gynecology and Molecular and Human Genetics; Baylor College of Medicine and Texas Children's Hospital; Houston TX USA

5. Genetics and Genomic Medicine; UCL Great Ormond Street Institute of Child Health; London UK

Publisher

Wiley

Subject

Genetics(clinical),Obstetrics and Gynaecology

Reference86 articles.

1. Update on overall prevalence of major birth defects - Atlanta, Georgia, 1978-2005 2008

2. Mathews TJ MM MacDorman F Thoma ME Infant mortality statistics from the 2013 period linked birth/infant death data set https://www.cdc.gov/ncbddd/birthdefects/data.html

3. Monitoring the prenatal detection of structural fetal congenital anomalies in England and Wales: register-based study;Boyd;J Med Screen,2011

4. Epidemiology of multiple congenital anomalies in Europe: a EUROCAT population-based registry study;Calzolari;Birth Defects Res A Clin Mol Teratol,2014

5. Chromosomal microarray versus karyotyping for prenatal diagnosis;Wapner;N Engl J Med,2012

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