Analysis results of 579 cases of genomic copy number variation sequencing of pregnant women in prenatal diagnosis

L.-L. Huang, H.-F. Chen, Y. Huang, Y.-N. Wei, J.-R. Tong, Y. Chen, J. Luo, S. Liao, L.-L. Wei, L. Deng, J.-Y. Su

Department of Obstetrics, the Second Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi. sujunyou@sr.gxmu.edu.cn

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• Obstetrics

OBJECTIVE: This study explored the usefulness of genomic copy number variation sequencing (CNV-Seq) in the prenatal diagnosis of pregnant women.

PATIENTS AND METHODS: Based on prenatal diagnostic indications, CNV‐Seq analysis was done in the samples from the 579 pregnant women of the 7 subgroups that included advanced maternal age (group A), high risk noninvasive prenatal test (NIPT) (group B), high risk Down’s (Group C), abnormal ultrasound findings (Group D), adverse pregnancy history (Group E), chromosome abnormalities in couples (Group F), and the mixed group (Group G).

RESULTS: A total of 57 (9.84%) cases have abnormal CNV-Seq results. Among them, 21 cases were aneuploid chromosomal number abnormalities (3.63%, 21/579), and 36 cases were CNV abnormalities (6.22%, 36/579), including 7 cases of pathogenic copy number alteration (pCNA) (1.21%, 7/579) and 29 cases variants of uncertain significance (VUS) (5.01%, 29/579). The total detection rates of abnormal CNV-Seq in Group G and Group B were 20.27% (15/74) and 15.91% (14/88), which were significantly higher than those in other groups (p < 0.05). Among 36 cases of abnormal CNV-Seq, 7 cases were chromosome fragment deletion or duplication, which were pathogenic CNV, and some rare chromosomal diseases were detected.

CONCLUSIONS: Patients with a high risk of NIPT or multiple indications of prenatal diagnosis are highly suspected of chromosomal diseases. CNV-Seq is a useful tool for detecting chromosome abnormalities for prenatal diagnosis of pregnant women more accurately and provides more comprehensive information for prenatal diagnosis to reduce birth defects.

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