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。
Objective To study the clinical application of Noninvasive Prenatal Test （NIPT） for fetal chromosomal aneu- ploidy. 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 uhrasonic 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 were 99. 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 chro- mosome 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.
作者
范向群
黄海龙
林娜
蔡美英
郑琳
王梅英
徐两蒲
林元
FAN Xiang-Qun;HUANG Hai-Long;LIN Na(Fujian Provincial Maternity and Children＇s Hospital,Affiliated Hospital of Fujian Medical University,Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect,Fuzhou,Fujian 350001,China)
出处
《中国妇幼保健》
CAS
2018年第21期4945-4948,共4页
Maternal and Child Health Care of China
基金
福建省科技厅重大专项资助项目(2013YZ0002-1)
福建省临床重点专科建设资助项目(20121589)
