Genetic etiology of adverse pregnancy and childbirth
[Objective]We analyzed the genetic etiology of the populations of adverse pregnancy and childbirth by chromosome karyotype analysis and clinical exome sequencing,for better guide clinical work.[Methods]From September 2019 to September 2023,409 couples who visited the prenatal diagnosis clinic of Shaoguan Maternal and Child Health Hospital due to adverse pregnancy history were collected as research objects.They were divided into recurrent abortion group,abnormal fetal group and birth defect group.Two hundred and sixty-nine couples were performed with chromosome karyotype analysis only,52 couples were performed with chromosome karyotype analysis and further clinical exome sequencing because of the normal chromosome result,and 88 couples were performed with trio-clinical exome sequencing only.[Results]There were 32 cases with abnormal chromosome,the overall detection rate was 9.97％(32/321),and the detection rates of the three groups were 12.12％,5.26％,3.03％,respectively.Exome sequencing detected 38 positive cases(pathogenic or likely pathogenic),also detected 18 cases of clinical uncertain significance,the overall detection rate was 27.14％(38/140),the detection rate of exome sequencing in the three groups was 13.64％(3/22),27.16％(22/81),35.14％(13/37),respectively.In the birth defect group,50％(4/8)of the variants of clinical uncertain significance changed reproductive decisions after pedigree analysis and reanalysis.[Conclusion]The clinical efficacy of chromosome examination is the highest in recurrent abortion group,and the clinical efficacy of exome sequencing is the highest in birth defect group.To pedigree analysis and reanalysis the cases of uncertain significance can improve the positive rate of clinical exome sequencing and maximize its clinical benefit.Genetic etiology detection can guide the reproductive decision-making of adverse pregnancy and reduce the rate of birth defects.
chromosome karyotype analysisclinical exome sequencingadverse pregnancy and childbirth
万方数据
维普
