Application Of Next-generation Sequencing Te Chnology In Chromosomal Abnormalities Diag Nosis Of Early Pregnancy Abortion

Objective: To explore the application value of next-generation sequencing technology in chromosomal abnormality diagnosis of spontaneous abortion in early pregnancy.Methods: From January 2020 to November 2020,323 pregnant women who were diagnosed as spontaneous abortion in the prenatal diagnosis center of Chenzhou First People’s Hospital were selected as research objects.Their villus tissues of abortion were collected and then detected by chromosome G banding karyotype analysis techniques and next-generation sequencing technology for chromosome aneuploidy abnormality examination.In addition,the efficiency of these two methods were compared and analyzed,and application of next-generation sequencing technology.From January 2014 to December 2019,329 pregnant women diagnosed as embryo termination were selected as the research objects.The aborted villus tissue was collected,and the villus cell genome copy number analysis was conducted by next-generation sequencing technology.The results were analyzed,and then the guiding significance of this technique was explored.Results:1.In 323 cases of spontaneous abortion,242 cases were successfully detected by chromosome G banded karyotype analysis,the detection rate was 74.92%(242/323).323 cases were successfully detected by next-generation sequencing technology,the detection rate was 100%(323/323).Of the 242 samples successfully detected by chromosome G banded karyotype analysis,64 cases were aneuploidy,detection results of next-generation sequencing technology were consistent with them。Among these,64 cases were diagnosed as chromosomal aneuploidy,including 29 cases for 47 XN,+16(8.98%,29/323),12 cases for 45,XO(3.71%,12/323),9 cases for 47,XN,+22(2.79%,9/323)and 6 cases for47,XN,+21(1.86%,6/323).2.In 329 cases of embryonic sterile villi,next-generation sequencing technology was used to detect 329 cases,Of these,136 had normal chromosomes,Chromosomal abnormalities,193,The positive rate was 58.66%(193/329).2.types of chromosomal abnormalities include Microrepeated deletion of aneuploidy,polyploidy,chimera and chromosome segments,Among them,149cases(45.29%,149/329),In 14 cases(4.26%),14/329),In 10 cases(3.04%),10/329),20 cases(6.08%,20/329).Conclusions:1.The results of high throughput sequencing is consistent with chromosome G banding karyotype analysis,therefore high throughput sequencing technology can be used for genetic diagnosis of spontaneous abortion.2.Next-generation sequencing technology can improve the detection rate of chromosome deletion in 6.08% of spontaneous abortion villi,which is very important for fertility guidance.Consequently,next-generation sequencing technology can be used for clinical diagnosis of chromosomal abnormalities in spontaneous abortion villi.