渝东北地区胎儿染色体非整倍体疾病的NITP分析

NITP Analysis of Fetal Chromosomal Aneuploidy Disease in Northeast of Chongqing

目的应用无创产前基因检测(noninvasive prenatal genetic testing,NIPT)技术研究渝东北地区胎儿染色体非整倍体疾病的发病率和年龄分布。方法利用美国life公司二代测序平台及生物信息分析技术,分析2016年7月～2018年5月在重庆三峡中心医院基因检测中心行NIPT检测的2 784例12～24周孕妇的外周血,从中获取胎儿染色体相关信息。对NIPT结果为高风险的孕妇实施羊膜腔穿刺及胎儿染色体核型分析,对NIPT结果为低风险的孕妇进行电话随访至出生后。结果渝东北地区孕妇染色体非整倍体疾病高风险阳性检出率为0.72%(20/2 784)。其中≥40岁阳性率为2.97%,30～39岁阳性率为0.75%,<30岁阳性率为0.54%。羊膜腔穿刺分析显示,21-三体、18-三体高风险诊断符合率为100%(11/11,2/2),13-三体高风险诊断符合率为80.00%(4/5)。NIPT诊断胎儿染色体非整倍体疾病的敏感度为100.00%(2 784/2 784),总特异度为94.44%(17/18),总假阳性率为0.03%(1/2 784),假阴性率为0.00%(0/0)。结论渝东北地区NIPT检测胎儿染色体非整倍体疾病的阳性检出率为0.72%,检出主要以21-三体为主,占61%,≥40岁高龄孕妇NIPT阳性率较其他年龄组明显升高,达2.97%。

Objective To study the incidence and age distribution of fetal chromosome non-aneuploid disease in Northeastern Chongqing by using noninvasive prenatal genetic testing(NIPT).Methods Using the second generation sequencing platform and bioinformation analysis technology of the US life company,the peripheral blood of 2 784cases 12~24weeks pregnant women tested by NIPT at the Genetic Testing Center of Chongqing Three Gorges Center Hospital from July 2016to May 2018was analyzed to obtain fetal chromosome information,analyzed amniocentesis and fetal karyotype of pregnant women with high risk of NIPT results,and the pregnant women with low risk of NIPT results were followed up by telephone until after birth.Results The high risk positive detection rate of chromosome non-aneuploid disease in pregnant women in Northeastern Chongqing was 0.72%(20/2 784).Among them,the positive rate of 40years and above was 2.97%,the positive rate of 30~39years old was 0.75%,and the positive rate of under 30years old was 0.54%.Amniotic fluid puncture analysis showed that the high-risk diagnosis compliance rate of 21-trisomes and 18-trisomes was 100%(11/11,2/2),and the highrisk diagnosis compliance rate of 13-trisomes was 80.00%(4/5).The sensitivity of NIPT to diagnosis of fetal chromosome non-aneuploid disease was 100.00%(2 784/2 784),the total specificity was 94.44%(17/18),and the total false positive rate was 0.03%(1/2 784),the false negative rate was 0.00%(0/0).Conclusion The positive detection rate of NIPT fetal chromosome non-aneuploid disease in northeast chongqing was 0.72%,mainly 21-triploid detection,accounting for 61%.The positive rate of NIPT in 40-year-old pregnant women was significantly higher than other age groups,reaching 2.97%.