A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound-Reference-Cited by-同舟云学术

A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound

Published:2020-07-20 Issue:10 Volume:40 Page:1300-1309
ISSN:0197-3851
Container-title:Prenatal Diagnosis
language:en
Short-container-title:Prenatal Diagnosis

Author:

Corsten‐Janssen Nicole¹^ORCID,Bouman Katelijne¹,Diphoorn Janouk C. D.¹,Scheper Arjen J.¹,Kinds Rianne¹,Mecky Julia¹²,Breet Hanna¹,Verheij Joke B. G. M.¹,Suijkerbuijk Ron¹,Duin Leonie K.³^ORCID,Manten Gwendolyn T. R.⁴,Langen Irene M.¹,Sijmons Rolf H.¹,Sikkema‐Raddatz Birgit¹,Westers Helga¹,Diemen Cleo C.¹

Affiliation:

1. Department of Genetics University of Groningen, University Medical Center Groningen Groningen The Netherlands

2. Clinical Ethics and Law University of Southampton Southampton UK

3. Department of Obstetrics, Gynecology and Prenatal Diagnosis University of Groningen, University Medical Center Groningen Groningen The Netherlands

4. Department of Obstetrics and Gynecology Isala Zwolle The Netherlands

Publisher

Wiley

Subject

Genetics(clinical),Obstetrics and Gynaecology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/pd.5781

Reference24 articles.

1. Eurocat update: short report congenital anomalies Northern Netherlands 1981–2017 (update);2019.www.eurocat.umcg.nl

2. Promises, pitfalls and practicalities of prenatal whole exome sequencing

3. Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES)

4. Joint Position Statement from the International Society for Prenatal Diagnosis (ISPD), the Society for Maternal Fetal Medicine (SMFM), and the Perinatal Quality Foundation (PQF) on the use of genome-wide sequencing for fetal diagnosis

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