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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 genetic testing in advanced pregnant women. Methods Retrospective analysis from February 2015 to January 2016 in Jiaxing Maternal and Child Health Hospital for treatment of pregnant women, maternal peripheral blood by detecting fetal free DNA, the application of NIPT prenatal genetic testing obtained fetal fetal aneuploidy (21-trisomy, 18-trisomy 13, trisomy 13). And high risk fetus taking amniotic fluid or umbilical cord blood, and then cell culture karyotype analysis to determine the fetal karyotype, fetus for all tests were followed up to after birth. Results 2250 cases of non-invasive prenatal genetic testing, the results showed a total of 13 cases of high-risk, including 21 cases of high risk of trisomy syndrome in 8 cases, 18 cases of high risk of trisomy syndrome in 3 cases, l3-trisomy syndrome In 2 cases. Amniotic fluid or umbilical cord karyotype analysis of the results of the gold standard for the results of control, detected in 8 cases of 21-trisomy syndrome, 6 patients were at high risk of diagnosis of 21-trisomy syndrome, 1 case of normal amniotic fluid karyotype, 1 case of amniotic fluid 46, XN, 21cenh + mat; detected 3 cases of 18-trisomy syndrome high risk of karyotyping confirmed by 18 cases of trisomy syndrome in 1 case, 2 cases of amniotic fluid chromosome karyotype; detected Two cases of 13-trisomy syndrome with high risk of karyotype analysis confirmed 13 cases of trisomy syndrome in 1 case, 1 case of amniotic fluid chromosome karyotype normal; all tested fetuses fetus after follow-up was found no false negative. The statistical analysis of fetal non-invasive prenatal gene detection 21-trisomy syndrome accuracy was 87.5%. The accuracy of 18-trisomy was 33.33% and the accuracy of 13-trisomy was 50%. Conclusion Noninvasive prenatal analysis of fetal aneuploidy can improve the efficiency of prenatal diagnosis with very high sensitivity and accuracy. At the same time, it can effectively reduce the risk of miscarriage and infection and reduce the risk of maternal infection due to its non-invasiveness. Psychological burden, to avoid the birth of Down’s children, more easily accepted by pregnant women and families, is the preferred choice of pregnant women, the preferred method of detection.