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Article

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

Genes - 25 Nov 2020

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

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33255631
DOI: 10.3390/genes11121397
PMCID: PMC7759943

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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