Genetic analysis on villi of spontaneous abortion in assisted reproductive technology by CNV-seq
Objective Utilizing CNV-seq analysis on chorionic villus tissue obtained from spontaneous abortion,to make a clinical diagnosis for the cause of miscarriage and to provide genetic guidance for subsequent pregnancies.Methods CNV-seq technology was used to detect the chorionic villi of early spontaneous abortion,and the chromosomal abnormalities were counted.The age,gestational age,previous abortion times,and effect of pregnancy mode on the chromosomal results of 181 female patients who were diagnosed as spontaneous abortion by color ultrasonography in Binzhou Medical University Hospital from January 2019 to June 2023 were retrospectively analyzed.There were 108 cases of natural pregnancy abortion and 73 cases of abortion after assisted reproductive technology(ART).Among them,42 pregnancies were assisted by in vitro fertilization and embryo transfer(IVF),24 by intracytoplasmic sperm injection(ICSI),and 7 by artificial insemination(IU1).The age was(32.83±5.34)years old,the gestational age was(57.39±10.05)d,and the number of spontaneous abortion was 0-5 times.One-way analysis of variance and x2 test were applied.Results Out of the 181 cases of spontaneous abortion,all the chorionic villi were successfully examined.Among them,74 cases exhibited normal findings,while 107 cases showed abnormalities,resulting in an abnormal rate of 59.12％.There were 98 cases with abnormal chromosome numbers,including 67 cases with trisomy,13 cases with X monomer,17 cases with chimera(7 cases with trisomy 16 chimera),and 1 case with triploid.There were 9 cases of gene copy number variations,and the fragment variation ranged from 2.12 to 95.92(37.32±24.57)Mb.According to different methods of conception,they were divided into a natural pregnancy group and an ART assisted pregnancy group.Out of the 73 cases in the ATR assisted pregnancy group,there were 40 abnormal cases,with an abnormal rate of 54.8％.Out of the 108 cases in the natural pregnancy group,there were 67 abnormal cases,with an abnormal rate of 62.0％.There was no statistically significant difference in the results of chorionic chromosome abnormality between the two groups(x2=0.954,P=0.3 31).Conclusions Chromosomal abnormalities are the primary factors contributing to early embryonic miscarriage,with numerical abnormalities being the major concern.It's worth noting that ART does not elevate the risk of spontaneous abortion.The application of the CNV-seq method to detect chromosomal variations in chorionic villi is of significant importance in unraveling the underlying causes of early spontaneous abortion.
万方数据
维普
