Detection Of Chromosome Aneuploidy And Copy Number Variations In Missed Abortion Chorionic Villi Using NGS Technology

Objective Using new-generation sequencing(NGS)technology to detect the chromosome aneuploidy and copy number variations(CNVs)in missed abortion chorionic villi,and analyzing its correlation with missed abortion.Methods 83 missed abortion specimens(chorionic villus samples)were from the prenatal diagnosis center outpatient service of the Ningxia Medical University General Hospital,which gestational week ranging from 6-12 weeks.Missed abortion chorionic villi used NGS technology to detect the chromosome aneuploidies and CNVs,and the test results were analyzed.Results NGS technology was attempted on 83 missed aborton specimens,in which 83 specimens were analysed successfully(the success rate100%).Chromosome abnormalities were found in 78 cases(abnormal rate was93.98%),in which 44 cases with aneuploidy(53.01%)and 34 cases with CNVs(40.97%)were identified.Trisomy 16,22,21,X,15 were the most common aneuploidies.The frequency of aneuploidy in women aged ≥35 years old(78.8%),was higher than that in women aged <35 yesrs old(36%),P<0.05,the difference was statistically significant.Chromosomal abnormality rate in recurrent spontaneous abortion group and sporadic abortion group was 97.5% and 90.7%respectively,P>0.05,there was no statistically significant difference.Conclusion Abnormal karyotype of abortion villus tissue is a major cause oflead to missed abortion.Chromosome aneuploidy is the most common cause of miscarriage types.Copy number variations have no clear relationship with missed abortion.The risk of embryonic aneuploidy increases with maternal age.NGS techniques in detecting the deactivation organization has significant advantages.