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Expanding the application of non-invasive prenatal testing in the detection of foetal chromosomal copy number variations

1 Dec 2021

Abstract excerpt

PURPOSE: The aim of this study was to assess the detection efficiency and clinical application value of non-invasive prenatal testing (NIPT) for foetal copy number variants (CNVs) in clinical samples from 39,002 prospective cases. METHODS: A total of 39,002 pregnant women who received NIPT by next-generation sequencing (NGS) with a sequencing depth of 6 M reads in our centre from January 2018 to April 2020 were...

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Fetal and Pediatric Neurological Disorders
Genomic variations and chromosomal abnormalities
Prenatal Screening and Diagnostics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 34895207
DOI: 10.1186/s12920-021-01131-6

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