Prenatal diagnosis of chromosome abnormalities by CNVseq in a Vietnamese cohort of 5,008 fetuses with clinical anomalies, 2018 – 2021

Abstract

This study was to assess the utility of CNVseq (Copy Number Variations – sequencing) as a prenatal diagnostic tool for detecting fetal chromosomal abnormalities within the Vietnamese population. A retrospective, crosssectional design was based on 5,008 Vietnamese pregnant women who had abnormalities in fetal morphology on prenatal ultrasound (SA)
from October 2018 to May 2021 and agreed to perform prenatal diagnosis by CNVseqnext generation sequencing technique. Among 5,008 women, 958 (19.13%) harbored at least one chromosomal abnormalities, comprising segmental aneuploidy (8.49%), trisomy (6.91%), multiple anomalies (2.10%), and sex chromosome abnormality (1.64%). This study also found an association between chromosomal abnormalities and several phenotypic markers. This work highlights the importance of CNVseq for the early detection of prenatal congenital abnormalities, especially in the first trimester. This study’s findings will meaningfully aid policymakers in developing cost-effective genetic prenatal screening programs.