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Clinical efficiency of simultaneous CNV-seq and whole-exome sequencing for testing fetal structural anomalies

3 Jan 2022

Abstract excerpt

BACKGROUND: Birth defects are responsible for approximately 7% of neonatal deaths worldwide by World Health Organization in 2004. Many methods have been utilized for examining the congenital anomalies in fetuses. This study aims to investigate the efficiency of simultaneous CNV-seq and whole-exome sequencing (WES) in the diagnosis of fetal anomaly based on a large Chinese cohort. METHODS: In this cohort study,...

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

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PMID: 34980134
DOI: 10.1186/s12967-021-03202-9

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