血清学指标、超声软指标联合NIPT用于高龄孕妇唐氏综合征筛查中的临床价值

摘要

目的 探讨血清学指标、超声软指标(ultrasound soft markers,USM)联合胎儿染色体非整倍体无创DNA 产前检测(noninvasive prenatal testing,NIPT)用于高龄孕妇唐氏综合征( Down's syndrome,DS)筛查中的临床价值.方法 回顾性分析2015年5月至2017年12月日照市妇幼保健院产检的2 984例高龄孕妇的产检和随访资料,所有产妇在孕期同时接受USM筛查和孕中期血清学筛查(second trimester serum screening,STSS),对于两项检查中有任意一项被定义为DS高危的孕妇,在征得其同意的情况下行NIPT,进行了NIPT的产妇最终以NIPT检测结果为最终筛查结果.未行NIPT者,以STSS或USM中检出的高危结果为最终筛查结果.筛查结果为高危的孕妇均进行羊膜腔穿刺确诊.对比筛查的敏感性与特异性.结果 2 984例孕妇同时接受STSS筛查和USM筛查,共有173例孕妇接受了NIPT筛查.其中,在STSS筛查为阳性的胎儿中发现6例核型异常,在USM筛查为阳性的胎儿中发现5 例核型异常,在NIPT筛查为阳性的胎儿中发现5 例核型异常;STSS和USM筛查方式的特异性和阴性预测值很高,但是敏感性较低,阳性预测值极低;STSS与USM分别与NIPT联合后,可以有效提高筛查的敏感性和阳性预测值.结论 对于血清学指标和USM诊断为DS高危的孕妇,可以进一步筛查NIPT.这对于降低孕妇羊膜腔穿刺率,提高出生人口质量大有裨益.%Objective To investigate the clinical value of serum markers, ultrasound soft markers ( USM) and NIPT in the screening of Down's syndrome(DS) in elderly pregnant women. Methods Retrospective analysis of prenatal care and follow -up information of 2 984 cases of elderly pregnant women in The Maternal and Child Health Hospital of Rizhao City from May 2015 to December 2017. All pregnant women underwent USM screening and second trimester serum screening( STSS) during pregnancy. For any of the two examinations that were defined as high-risk DS, the fetus chromosome aneuploidy non-invasive DNA prenatal testing (NIPT) was performed with their consent. Mothers who performed NIPT eventually used the NIPT test results as the final screening result. In the absence of NIPT, the high-risk results detected in STSS or USM were the final screening results. High-risk pregnant women were diagnosed with amniocentesis by screening. Compared the sensitivity and specificity of screening. Results 2 984 pregnant women received both STSS screening and USM screening. A total of 173 pregnant women received NIPT screening. 6 karyotypic abnormalities were found in fetuses positive for STSS screening. 5 cases of karyotypic abnormalities were detected in USM-positive fetuses. 5 cases of karyotypic abnormalities were detected in children who were positive for NIPT screening. The specificity and negative predictive value of STSS and USM screening methods were high, but the sensitivity was low, and the positive predictive value was extremely low; STSS and USM combined with NIPT respectively, can effectively increase the sensitivity and positive predictive value of screening. Conclusion NIPT can be further screened for pregnant women who are diagnosed with high -risk DS for serological markers and USM. This is of great benefit in reducing the rate of amniocentesis of pregnant women and improving the quality of the birth population.