【摘要】 目的:探讨孕中期绒毛膜促性腺激素(HCG)+甲胎蛋白(AFP)+未结合雌三醇(u E3)+抑制素a四联筛查唐氏综合征的参考价值,为推算唐氏儿的风险率及根据其风险率高低进行更深层次的筛查与诊治提供理论与实践依据。方法:回顾性分析本院2017年3月至2018年3月接受孕中期唐氏综合征筛查并随访成功的201例单胎孕妇(7例胎儿有唐氏综合征)作为本次实验的研究对象,检测AFP、HCG及uE3、抑制素A浓度,唐氏综合征风险值的三联及四联筛查均采用SURUSS相关参数计算,并统计、分析其不同切割值水平对唐氏综合征筛查效果。结果:201例受试者中不同年龄段的MOM值总异常率为24.88%(50/201),其中HCG、AFP、uE3及抑制素A异常率为8.96%、9.95%、1.99%及3.98%。羊水穿刺胎儿染色体检测时发现,共7例(3.48%)染色体异常,其中孕母血清学MOM值≥1项异常者5例,占71.43%,MOM值正常者胎儿的染色体异常发病率1.32%(2/151)较MOM值异常者胎儿染色体异常发病率10.00%(5/50)低,两者相比差异显著(P<0.05)。SURSS计算发现,切割值水平(引自满婷婷:1/100、1/250和1/380)时四联(AFP+uE3+HCG+抑制素A)筛查的假阳性率各3.12%、5.75%和7.68%,较三联筛查低0.85%、2.01%和3.52%。而在切割值相同时,四联筛查的假阳性率均显著低于二联筛查和单项筛查,差异显著(P<0.05)。经Pearson分析发现,抑制素A与HCG、AFP有相关性,其中胎儿正常孕妇的抑制素A与HCG、AFP呈正相关,胎儿为唐氏综合征的孕妇的抑制素A与HCG、AFP呈负相关,差异显著(P<0.05),而抑制素A与uE3则无相关性(P>0.05)。结论:在唐氏综合征的孕中期筛查过程中,科学、合理的予以HCG+AFP+uE3+抑制素A四联筛查的有效性更高,有良好的临床应用与推广价值。更多还原

【Abstract】 Objective: To explore the reference value of Down’s syndrome screening with AFP,HCG,UE3 and inhibin A in the second trimester of pregnancy,so as to provide theoretical and practical basis for predicting the risk rate of pregnant women and children with Down’s syndrome and for further screening and diagnosis and treatment according to the risk rate.Methods: A retrospective analysis was made of 201 singleton pregnant women( 7 fetuses with Down’s syndrome) who were successfully screened and followed up in our hospital from March 2017 to March 2018. To detect HCG,AFPand UE3 、inhibin A. thethree-and four-way screening of Down’s syndrome risk values were calculated by suss related parameters,and the effect of different cut value levels on Down’s syndrome screening was analyzed.Result: In 201 subjects,the total abnormal rate of mom in different age groups was 24.88%,in which the abnormal rates of HCG,AFP,uE3 and inhibin A were 8.96%,9.95%,1.99% and 3.98% respectively. There were 7 cases( 3.48%) of chromosomal abnormalities in amniocentesis. Among them,5 cases( 71.43%) had abnormal mom value ≥1. The incidence of chromosomal abnormalities in normal mom was 1.32%( 2/151) which was 10.00%( 5/50) higher than that in abnormal mom( P <0.05).the SURSS calculation showed that the false-positive rate of AFP +uE3+HCG+Inhibin A was 3.12%,5.75% and 7.68% respectively,which was 0.85%,2.01% and 3.52% lower than that of triple screening. The false positive rate of quadruple screening was significantly lower than that of double screening and single screening( P <0.05). Pearson’s score showed that Inhibin A was positively correlated with HCG and AFP in normal pregnant women,but negatively correlated with HCG and AFP in Down’s syndrome pregnant women( P <0.05),There was no correlation between inhibin A and uE3( P > 0.05).Conclusion: In the mid pregnancy screening of Down’s syndrome,scientific and reasonable HCG+AFP +u E3+inhibin A quadruple screening is more effective and has good clinical application and promotion value.更多还原