CNV-seq technique in prenatal diagnosis of genetic abnormalities at Hanoi Obstetrics and Gynecology Hospital

Abstract

Evaluate the value of Copy number variations-sequencing (CNV-seq) for prenatal diagnosis of genetic abnormalities. Subjects and methods: A cross-sectional descriptive study with a retrospective review of 421 pregnant women with gestational age of 16-27 weeks, who were indicated for amniocentesis and performed two techniques simultaneously: amniocyte culture for karyotyping and CNVseq at Hanoi Obstetrics and Gynecology Hospital from January 2023 to December 2023. Results: CNV-seq detected 146/421 cases of chromosomal abnormalities (34,68%), while karyotyping detected 137/421 cases (32.54%). CNV-seq showed a higher detection rate of genetic abnormalities compared to karyotyping in pregnant women with abnormal ultrasound morphology or high-risk NIPT screening results. Conclusion: CNV-seq increases the ability to detect chromosomal number and structural abnormalities compared to karyotyping. The combination of CNV-seq and karyotyping helps to increase the accuracy of prenatal diagnosis of genetic abnormalities in the fetus. However, due to its high cost and certain limitations, it is recommended that the CNV-seq technique be considered in parallel with amniotic fluid cell culture for karyotyping in cases such as high-risk NIPT screening results, fetuses with abnormal ultrasound morphology, etc., to achieve the most accurate diagnosis of genetic disorders in the fetus.