Genes, Vol. 11, Pages 1397: Simultaneous Detection of CNVs and SNVs Improves the Diagnostic Yield of Fetuses with Ultrasound Anomalies and Normal Karyotypes

Genes, Vol. 11, Pages 1397: Simultaneous Detection of CNVs and SNVs Improves the Diagnostic Yield of Fetuses with Ultrasound Anomalies and Normal Karyotypes
Genes doi: 10.3390/genes11121397
Authors:
Qingwei Qi
Yulin Jiang
Xiya Zhou
Hua Meng
Na Hao
Jiazhen Chang
Junjie Bai
Chunli Wang
Mingming Wang
Jiangshan Guo
Yunshu Ouyang
Zhonghui Xu
Mengsu Xiao
Victor Wei Zhang
Juntao Liu

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 variants (SNVs)/small insertion-deletions (indels) in fetuses with a normal karyotype with ultrasound anomalies. We performed CNV detection by chromosomal microarray analysis (CMA) or low pass CNV-sequencing (CNV-seq), and in parallel SNVs/indels detection by trio-based clinical exome sequencing (CES) or whole exome sequencing (WES). Eight-three singleton pregnancies with a normal fetal karyotype were enrolled in this prospective observational study. Pathogenic or likely pathogenic variations were identified in 30 cases (CNVs in 3 cases, SNVs/indels in 27 cases), indicating an overall molecular diagnostic rate of 36.1% (30/83). Two cases had both a CNV of uncertain significance (VOUS) and likely pathogenic SNV, and one case carried both a VOUS CNV and an SNV. We demon...

Source: Genes - November 25, 2020 Category: Genetics & Stem Cells Authors: Qingwei Qi Yulin Jiang Xiya Zhou Hua Meng Na Hao Jiazhen Chang Junjie Bai Chunli Wang Mingming Wang Jiangshan Guo Yunshu Ouyang Zhonghui Xu Mengsu Xiao Victor Wei Zhang Juntao Liu Tags: Article Source Type: research