NIPT产前基因检测技术在高龄孕妇中临床应用

Clinical application of NIPT prenatal gene testing technology in advanced pregnant women

目的探讨NIPT产前基因检测技术在高龄孕妇中临床应用价值。方法回顾性分析2015年2月到2016年1月在嘉兴市妇幼保健院就诊的高龄妊娠孕妇,通过母体外周血中检测胎儿游离DNA,应用NIPT产前基因检测技术得出胎儿患染色体非整倍性疾病(21-三体综合征、18-三体综合征、13-三体综合征)的风险率。并对高风险胎儿采取羊水或脐血,再行细胞培养染色体核型分析以确定胎儿染色体核型,对所有检测孕妇胎儿均随访至出生后。结果实施无创产前基因检测2250例,结果显示为高风险共13例,其中21-三体综合征高风险为8例,18-三体综合征高风险为3例,l3-三体综合征为2例。以羊水或脐血染色体核型分析的结果为金标准进行结果对照,检测出的8例21-三体综合征高风险中6例确诊为21-三体综合征,1例羊水核型正常,1例羊水46,XN,21cenh+mat;检测出的3例18-三体综合征高风险经核型分析确诊为18-三体综合征1例,2例羊水染色体核型正常;检测出的2例13-三体综合征高风险经核型分析确诊为13-三体综合征1例,1例羊水染色体核型正常;所有检测孕妇胎儿出生后的随访中没有发现假阴性。经统计分析胎儿无创产前基因检测21-三体综合征的准确性为87.5%。18-三体综合征的准确性均为33.33%和13-三体综合征的的准确性均为50%。结论无创产前胎儿非整倍体基因检测可提高产前诊断效率,具有非常高的敏感性和准确性,同时因其无创性有效避免侵入性诊断给孕妇带来流产及感染风险,减轻孕妇的心理负担,避免了唐氏儿的出生,更易被孕妇及家庭所接受,是高龄孕妇意愿选择检测方法的首选。

Objective：To investigate the clinical value of NIPT prenatal gene testing technology in elderly pregnant women. Methods：A retrospective analysis from February 2015 to January 2016 in Jiaxing Maternal and Child Health-Care Center for treatment of elderly pregnant women,detected by fetal DNA in maternal peripheral blood,aneuploidy disease using NIPT prenatal detection technology that the fetus with chromosome（18-syndrome,trisomy 13-trisomy 21-trisomy comprehensive risk）. Amniotic fluid or umbilical cord blood was taken into the high-risk fetus,and chromosome karyotype analysis was performed to determine the karyotype of the fetus. All the pregnant women were followed up until birth. Results：2250 cases of high risk were detected by non-invasive prenatal genetic testing,including 13 cases with high risk of trisomy 21-syndrome,8 cases with 18-trisomy syndrome,3 cases with l3-trisomy syndrome,and 2 cases with trisomy 3 syndrome. Results 2250 cases of noninvasive prenatal genetic testing showed high risk,including 13 cases with high risk of trisomy 21-,3 cases of trisomy 18-and 2 cases of trisomy l3-syndrome（8 cases）. Results by amniotic fluid or umbilical cord blood karyotype analysis as the gold standard for comparison,detected 8 cases of trisomy 21-syndrome in 6 cases of high risk for trisomy 21-syndrome,1 cases of amniotic fluid of normal karyotype,1 cases of amniotic fluid 46,XN,21 cenh＋mat;detected 3 cases of trisomy 18-syndrome with high risk karyotype analysis confirmed trisomy 18-syndrome in 1 cases,2 cases of amniotic fluid of normal karyotype;detect 2 cases of trisomy 13-syndrome high risk by karyotype analysis confirmed trisomy 13-syndrome in 1 cases,1 cases of amniotic fluid of normal karyotype;all found no false negative detection of pregnant women after birth follow-up. By statistical analysis,the accuracy of fetal trisomy 21-syndrome was 87.5%. The accuracy of trisomy 18-syndrome was 33.33% and the accuracy of trisomy 13-syndrome was 50%. Conclusion：Noninvasive prenatal detection of fetal aneuploidy gene can improve the efficiency of prenatal diagnosis,has very high sensitivity and accuracy,at the same time because of its non-invasive avoid invasive diagnosis for pregnant women at risk of miscarriage and infection,reduce the psychological burden of pregnant women,avoid the Down＇s child was born,more susceptible to pregnant women and family accept,is pregnant women will choose the preferred detection method.