Relationship Between Recurrent Spontaneous Abortion And Chromosomal Abnormalities

Objective:To investigate the relationship between recurrent spontaneous abortion and chromosomal abnormalities and the role of high-throughput sequencing technology in the detection of chromosomal abnormalities,and to provide clinical evidence for genetic detection in patients with recurrent spontaneous abortion.Methods:In this study,a retrospective analysis was used to review the total number of couples who had been examined in the peripheral blood of the obstetrics and gynecology and reproductive center clinics of the People's Hospital of Guangxi Zhuang Autonomous Region from January 01,2016 to December 31,2017.The total number of couples was 6,376,a total of 111 pairs.222 patients met the criteria for inclusion in this study and performed peripheral blood chromosome tests.High-throughput sequencing of hairs was performed in 40 patients with informed consent.Results : 1.A total of 222 couples with 1,111 couples had a total of 22 chromosomal abnormalities,with an abnormal rate of 9.90%.The difference was statistically significant compared with the chromosomal abnormalities in thegeneral population(P<0.0001);chromosomal abnormalities were found in males and females.There was no statistical difference between the rates(P=0.369).2.Peripheral blood chromosomes were examined by couples.In chromosome abnormalities of 9 male patients,there were 3 cases of abnormal chromosome structure and 6 cases of chromosome polymorphism.Among the 13 female chromosomal abnormalities,5 had abnormal chromosome structure and 8 had chromosome polymorphism.3.20 cases of autoimmune abnormalities,2 cases of sex chromosome abnormalities,and 1 case of abnormal autosomal and sex chromosomes were detected in abortion villi tissue samples.The assay detected a total of 4,6,7,12,13,15,16,17,22 autosomes and sex chromosomes,all of which were fragment deletions and duplications.The size of deletions and repeats were below 10 Mb.4.The polymorphism rate of recurrent spontaneous abortion patients was significantly different from that of the general population(P<0.0001).5.The mothers were grouped according to age.24 patients were younger than 35 years old.Among them,13 cases had chromosomal abnormalities of flow products,and the abnormal rate was 54.2%.There were 16 cases aged ? 35 years old.Among them,10 cases had chromosomal abnormalities of flow products.The abnormal rate was62.5%.There was no significant difference in the rate of abnormality between the two groups(P>0.05).Conclusion:1.The chromosomal abnormality rate in patients with recurrent spontaneous abortion was higher than that in the general population,and the difference was statistically significant.2.High-throughput sequencing technology can detect chromosome microdeletions/microreplications with unknown pathogenicity.High-throughput sequencing should be performed for spontaneous abortion products when they are conditional.Whenever necessary,both partnersperform peripheral chromosomes simultaneously.Karyotype and high-throughput sequencing check.3.The relationship between maternal age and recurrent spontaneous abortion chromosomal abnormalities needs further accumulation of a large number of clinical data to further confirm.