Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families

Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families

Prenatal ultrasound (US) abnormalities often pose a clinical dilemma and necessitate facilitated investigations in the search of diagnosis. The strategy of pursuing fetal whole-exome sequencing (WES) for pregnancies complicated by abnormal US findings is gaining attention, but the reported diagnosti...

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Bibliographic Details
Main Authors: Lior Greenbaum, Ben Pode-Shakked, Shlomit Eisenberg-Barzilai, Michal Dicastro-Keidar, Anat Bar-Ziv, Nurit Goldstein, Haike Reznik-Wolf, Hana Poran, Amihai Rigbi, Ortal Barel, Aida M. Bertoli-Avella, Peter Bauer, Miriam Regev, Annick Raas-Rothschild, Elon Pras, Michal Berkenstadt
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-06-01
Series:Frontiers in Genetics
Subjects:
whole-exome sequencing (WES)
prenatal diagnosis
ultrasound abnormalities
clinical genetics
congenital anomalies
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2019.00425/full

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https://www.frontiersin.org/article/10.3389/fgene.2019.00425/full

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