Simultaneous Detection of CNVs and SNVs Improves the Diagnostic Yield of Fetuses with Ultrasound Anomalies and Normal Karyotypes

The routine assessment to determine the genetic etiology for fetal ultrasound anomalies follows a sequential approach, which usually takes about 6-8 weeks turnaround time (TAT). We evaluated the clinical utility of simultaneous detection of copy number variations (CNVs) and single nucleotide variant...

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Veröffentlicht in:	Genes 2020-11, Vol.11 (12), p.1397
Hauptverfasser:	Qi, Qingwei, Jiang, Yulin, Zhou, Xiya, Meng, Hua, Hao, Na, Chang, Jiazhen, Bai, Junjie, Wang, Chunli, Wang, Mingming, Guo, Jiangshan, Ouyang, Yunshu, Xu, Zhonghui, Xiao, Mengsu, Zhang, Victor Wei, Liu, Juntao
Format:	Artikel
Sprache:	eng
Schlagworte:	Amniocentesis Chromosomes Copy number Deoxyribonucleic acid Disease DNA Etiology Fetuses Genetic counseling Genetic screening Genomes Genomics Insertion Karyotypes Mutation Pregnancy Prenatal diagnosis Technology adoption Ultrasonic imaging Ultrasound
Online-Zugang:	Volltext
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