【摘要】 目的探讨无创产前基因检测(NIPT)在胎儿染色体非整倍体诊断中的应用价值。方法选取2016年1月-2017年3月在福建省妇幼保健产前诊断中心做NIPT检测的孕妇为研究对象,应用NIPT技术对11 133例孕妇外周血进行检测,分为5组,分别为血清学筛查高风险2 680例、血清学筛查临界风险4 829例、高龄妊娠(≥35岁) 2 830例、B超检出胎儿结构异常548例、介入性手术禁忌证246例,NIPT检测高风险的孕妇进一步用金标准验证,低风险的孕妇随访婴儿出生后的情况。结果 NIPT检出高风险21-三体综合征26例(0. 23%)、18-三体综合征7例(0. 06%)、13-三体综合征2例(0. 02%)、性染色体44例(0. 39%)和其他染色体(8号、14号、20号) 3例(0. 03%),其灵敏度均为100%,特异度分别为99. 98%、99. 98%、99. 99%、99. 86%和99. 98%,假阳性率分别为0. 02%、0. 02%、0. 01%、0. 14%和0. 02%。NIPT检测21-三体综合征和18-三体综合征有比较好的一致性,对血清学筛查高风险、高龄妊娠(≥35岁)、血清学筛查临界风险组的检测也有较好的一致性。结论NIPT技术对胎儿21号、18号染色体非整倍体异常有较高的检出率,尤其适合血清学筛查高风险、高龄妊娠(≥35岁)、血清学筛查临界风险的孕妇人群,有望为孕妇提供一种全新的安全、快捷、准确性高的产前筛查方法。更多还原

【Abstract】 Objective To study the clinical application of Noninvasive Prenatal Test( NIPT) for fetal chromosomal aneuploidy. Methods NIPT was applied to detect 11 133 pregnancies with high or critical risk of Down’s screening,older pregnancy( ≥35 years),fetal abnormal structure detected by B ultrasonic and contraindication of interventional operation. The high risk results of NIPT were confirmed by Gold standard method. Apart from that,the pregnancies with low risk results of NIPT were follow-up. Results NIPT checked out high-risk 21 three body 26 cases( 0. 23%),7 cases( 0. 06%),13,18 three body three body in 2 cases( 0. 02%),sex chromosomes,44 cases( 0. 40%) and other chromosomes( 8,14,20) in 3 patients( 0. 03%),the sensitivity of 100%,specific degrees were99. 98%,99. 98%,99. 99%,99. 86% and 99. 98%,false positive rate were 0. 02%,0. 02%,0. 01%,0. 14% and 0. 02%. NIPT detected a better consistency between the 21 and 18 trigrams,and there was good consistency in the detection of serological screening for high risk,critical risk of Down’s screening,older pregnancy( ≥35 years). Conclusion NIPT technology to the fetus,18,21 chromosome aneuploidy abnormality has higher detection rate,especially for high risk,critical risk of Down ’ s screening,older pregnancy( ≥ 35 years),serologic screening of pregnant women,is expected to provide pregnant women with a new kind of safe,quick,high accuracy of prenatal screening method.更多还原