Application Of Whole Genome Sequencing In Chromosome Examination Of Missed Abortion Villus

Objective:The chromosome abnormality of missed abortion villus was analyzed to find the cause of abortion and to provide support for the risk assessment of second birth.Methods:From December 2017 to December 2018,a total of 49 cases of missed miscarriages were retrospectively selected in jinzhong yingtai maternity hospital who have an abortion or medical abortion termination for 6-13 weeks.The patients were aged 23-41 years old.The whole genome sequencing(WGS)was conducted in 49 missed abortion patients to detect the chromosome of the villus.The results were analyzed to identify chromosomal abnormalities leading to miscarriage.Results:All of 49 abortion villus were successfully analyzed.The success rate was 100%.20 cases(41%,20/49)with normal chromosome number,29 samples(59%)with abnormal chromosomes were identified,of which 21 samples(72.41%)were aneuploidy.3 cases of triploid abnormality(10.3%,3/29),2 cases of double trisomy abnormality(6.9%,2/29),2 cases of chromosome structure abnormality(6.9%,2/29),2 cases of trisomy chimerism(6.9%,2/29),and 1 case of monomer chimerism(3.4%,1/29).abnormal chromosome structure in 2 cases(6.9%,2/29),the three body chimeric in 2 cases(6.9%,2/29),monomer chimeric in 1 case(3.4%,1/29).Conclusion:(1)Chromosome aneuploidy was the most common chromosome abnormality in missed abortion villous cells.Detection of chromosomal abnormalities in the aborted tissue is very important to determine the cause of pregnancy loss.(2)Genetic diagnosis of whole genome sequencing has significant value.