2019—2021年库车市唐氏综合征产前筛查结果分析  

Results of prenatal screening of Down syndrome in Kuche City in 2019—2021

作　　者：毛国华[1] 蒋晨丽 MAO Guohua;JIANG Chenli(Ningbo Center for Disease Control and Prevention,Ningbo,Zhejiang 315100,China)

机构地区：[1]宁波市疾病预防控制中心预防办公室,浙江宁波315100 [2]库车市妇幼保健院妇产科

出　　处：《中国预防医学杂志》2023年第7期737-742,共6页Chinese Preventive Medicine

摘　　要：目的对新疆维吾尔自治区阿克苏地区库车市孕妇唐氏综合征产前筛查结果进行探讨,为提高库车市出生人口素质提供参考。方法将2019年4月—2021年4月库车市妇幼保健院进行产检的9~20+6孕周单胎孕妇作为研究对象。将孕妇年龄、体质量指数(body mass index,BMI)、孕周、甲型胎儿蛋白(Alpha fetoprotein,AFP)、人绒毛膜促性腺激素(human chorionic gonadotrophin,HCG)和游离三醇(free estriol,FE3)因素输入唐氏综合征产前筛选检查风险评估软件中分析风险系数,并汇总统计进行高风险、临界风险分组;对血清学检测为阳性的单胎孕妇进行无外周血胎儿游离DNA无创检查(noninvasive prenatal testing,NIPT),对NIPT阳性孕妇进行羊水穿刺检查。对唐氏综合征相关因素进行logistic回归分析,评价三种诊断检测的准确度。结果共调查孕妇6577例,经血清学筛选检查风险评估分为低风险组5907例和风险组670例。血清学筛选检查阳性率为10.19%(670/6577),其中高风险211例,临界风险459例。多因素logistic回归分析结果显示,孕妇高龄、孕期体质量增长过度、父亲年龄≥40岁、孕前BMI≥24.0 kg/m2、少数民族是唐氏综合征的危险因素。血清学检测为阳性的670例患者行NIPT检测,检出率为11.79%(79例);79例NIPT检测高风险孕妇行羊水染色体核型分析,细胞培养成功率为100.00%。以羊水穿刺检查结果以及临床分娩结局作为对照标准,NIPT的阳性预测值(91.14%)高于血清学检测(11.19%)(χ2=286.322,P<0.05);阴性预测值达到100.00%,与血清学检测的阴性预测值(99.96%)差异无统计学意义(χ2=0.213,P>0.05)。汉族与少数民族检查结果分布情况差异有统计学意义(χ2=15.431,P<0.01)。结论库车市早期唐氏综合征筛查工作需考虑民族因素。血清学检测筛查唐氏综合征有较高的假阳性率,应结合NIPT检查提高阳性预测值,减少不必要的羊水穿刺检查造成的创伤和资源浪费。Objective To analyze the results of prenatal screening of Down syndrome in Kuche City,Aksu Prefecture,Xinjiang Uygur Autonomous Region,so as to provide reference for improving newborn health in Kuche City.Methods From April 2019 to April 2021,6577 women with singleton pregnancy of 9-20+6 gestational weeks who underwent antenatal examination in Kuche Maternal and Child Health Care Hospital were selected and maternal serum screening was conducted.According to the prenatal screening criteria for Down syndrome,Reduce the age of pregnant women,maternal body mass index(BMI),gestational week,Alpha fetoprotein(AFP),human chorionic gonadotropin(HCG),and free triol(FE3)factors were input into the risk assessment software for prenatal screening for Down’s syndrome to analyze the risk factors were inputted into the prenatal screening risk assessment software for Down syndrome to estimate the risk level,which was used to determine the high-risk group and borderline risk group.For those with positive result in serological test,noninvasive prenatal testing(NIPT)and amniocentesis were performed.Logistic regression was performed exploring the related factors of Down syndrome.Evaluate the accuracy of these three diagnostic tests.Results 6577 pregnant women underwent serological screening and risk assessment,of whom 5907 were assigned to the low-risk group and 670 to risk group.The proportion of positive serological test result was 10.19%(670/6577),including 211 cases at high risk and 459 at borderline risk.Multivariable logistic regression showed that higher maternal age,excessive weight gain during pregnancy,father’s age≥40 years old,prepregnancy BMI≥24.0 kg/m^(2),and the pregant women being ethnic minority were risk factors for Down syndrome.The detection rate of NIPT was 79(11.79%)in the 670 patients with positive serological test result.Among the 79 high-risk pregnant women detected by NIPT and further examined using karyotype analysis of amniotic fluid cells,the success rate of cell culture was 100%.Taking the amnioce

关 键 词：唐氏综合征 DNA无创检查 介入性产前诊断 

分 类 号：R715.2[医药卫生—妇产科学]