Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging.,Prenatal Diagnosis

当前位置： X-MOL 学术 › Prenat. Diagn. › 论文详情

Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)

Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging.
Prenatal Diagnosis ( IF 2.7 ) Pub Date : 2020-04-25 , DOI: 10.1002/pd.5717
Chantal Deden _{1,

2} , Kornelia Neveling ₁ , Dimitra Zafeiropopoulou ₃ , Christian Gilissen ₃ , Rolph Pfundt ₄ , Tuula Rinne ₄ , Nicole de Leeuw ₄ , Brigitte Faas ₁ , Thatjana Gardeitchik ₃ , Suzanne C E H Sallevelt ₅ , Aimee Paulussen ₅ , Servi J C Stevens ₅ , Esther Sikkel ₆ , Mariet W Elting ₇ , Merel C van Maarle ₈ , Karin E M Diderich ₉ , Nicole Corsten-Janssen ₂ , Klaske D Lichtenbelt ₁₀ , Guus Lachmeijer ₁₀ , Lisenka E L M Vissers ₄ , Helger G Yntema ₄ , Marcel Nelen ₁ , Ilse Feenstra ₁ , Wendy A G van Zelst-Stams ₁

Affiliation

Department of Human Genetics, Radboud University Medical Center, Radboud Institute for Health Sciences, Nijmegen, The Netherlands.
Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Department of Human Genetics, Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.
Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands.
Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
Department of Obstetrics and Gynecology, Radboud University Medical Centre, Nijmegen, The Netherlands.
Department of Clinical Genetics, AMsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
Department of Clinical Genetics, AMsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
Department of Clinical Genetics, Erasmus University Medical Center Rotterdam, Rotterdam, The Netherlands.
Department of Genetics, Utrecht University Medical Center, Utrecht, The Netherlands.

The purpose of this study was to explore the diagnostic yield and clinical utility of trio‐based rapid whole exome sequencing (rWES) in pregnancies of fetuses with a wide range of congenital anomalies detected by ultrasound imaging.

中文翻译：