无创基因检测在产前筛查中的临床应用

Clinical application of noninvasive gene detection in prenatal screening

目的探讨无创基因检测在产前筛查胎儿染色体非整倍体疾病中的临床应用价值。方法选择2016年6月-2017年12月自愿在天津市南开区妇女儿童保建和计划生育服务中心进行无创基因产前检测的单活胎孕妇8 223例作为研究对象。采集孕妇外周血检测孕期母体外周血中胎儿游离DNA片段,以评估胎儿常见染色体非整倍体异常风险值。对高风险孕妇进行羊膜腔穿刺染色体核型分析,并对研究对象电话随访至分娩。结果染色体异常75例,其中21-三体16例,18-三体7例,13-三体2例,性染色体异常31例,其他染色体异常19例。羊膜腔穿刺羊水细胞染色体产前诊断检查显示,21-三体确诊16例,18-三体确诊7例,13-三体1例,Turner综合征1例,47xxx4例、47xxy3例、45x2例,孕妇均终止妊娠。结论无创基因检测对筛查胎儿染色体非整倍体疾病具有较高的检出率,且较介入性产前诊断易接受,具有较好的临床应用价值。

Objective To explore the clinical application value of noninvasive gene detection in prenatal screening for fetal chromosomal aneuploidy diseases.Methods 8 223 single live pregnant women who volunteered for noninvasive prenatal gene detection in Nankai District Women’s and Children’s Protection and Family Planning Service Center from June 2016 to December 2017 were selected as the subjects of study.Peripheral blood of pregnant women was collected to detect fetal free DNA fragments in maternal peripheral blood during pregnancy and assess the risk of common chromosomal aneuploidy abnormalities in fetuses.The chromosome karyotype of high-risk pregnant women was analyzed by amniocentesis,and the subjects were followed up by telephone until delivery.Results There were 75 cases of chromosomal abnormalities,including 16 cases of trisomy 21,7 cases of trisomy 18,2 cases of trisomy 13,31 cases of sexual chromosomal abnormalities,19 cases of other chromosomal abnormalities.Prenatal diagnosis of amniotic fluid cells by amniocentesis showed that,16 cases of trisomy 21,7 cases of trisomy 18,1 case of trisomy 13,1 case of Turner syndrome,4 cases of 47 xxx,3 cases of 47 xxy,2 cases of 45 x.Pregnant women all terminated pregnancy.Conclusion Noninvasive gene detection has a high detection rate for screening fetal chromosomal aneuploidy diseases,and is more acceptable than interventional prenatal diagnosis,and has a better clinical application value.