Application of CNV-seq for the detection of chromosomal mosaicism in early pregnancy spontaneous abortion villi
Objective:To explore the incidence of mosaicism in early pregnancy spon-taneous abortion villi samples and provide references for clinical genetic counselling by multilo-cus sampling meanwhile using genomic copy number variation sequencing(CNV-seq)technol-ogy.Methods:Early pregnancy spontaneous abortion villi samples were collected from the Cen-ter of Prenatal and Hereditary Disease Diagnosis,Department of Obstetrics and Gynecology,Nanfang Hospital,Southern Medical University from August 2019 to June 2024,and were sub-jected to copy number variation sequencing.Short tandem repeats analysis was performed to ex-clude maternal cell contamination and confirmed multiploidy.Results:A total of 1141 villi tis-sues were collected.762 chromosomal abnormalities were detected by CNV-seq,which included 79 mosaicism(6.92％).The rates of chromosomal mosaicism in pregnant women who were un-der 30 years old,30～34 years old,35～39 years old,and 40 years old or older were 7.58％,6.57％,6.48％,6.49％,respectively,and the difference were no statistically significant(P=0.93).The rates of chromosomal mosaicism in the pregnancies with gestational ages of 6～7+6 weeks,8～9+6 weeks,and 10～11+6 weeks were 8.17％,5.05％and 7.08％,respectively,and the difference were no statistically significant(P=0.15).Conclusion:The CNV-seq technique is of high diagnostic value for chromosomal mosaicism,and the CNV-seq technique with multi-site sampling is effective in improving the detection rate of mosaicism.There is no statistically significant difference in the detection rate of mosaicism among different age groups and between different gestational weeks of early pregnancy.
Copy number variation sequencingChromosomal mosaicismSpontaneous abortionMultil-ocus sampling
万方数据
维普
