【摘要】 目的探讨孕中期血清学产前筛查质量的适宜评价方法。方法分析2007年1月至2012年12月在云南省第一人民医院产科分娩的新生儿出生缺陷中目标疾病的发生率,比较产前筛查组与未筛查组产妇中目标疾病的发生率,从而评价血清学产前筛查的效率。结果 24 120例活产婴儿中发现唐氏综合征(DS)患儿14例,发生率5.8/万,其中12例由孕期未接受血清学产前筛查的产妇生育;发现开放性神经管缺陷(NTD)患儿5例,发生率2.1/万,其中3例由孕期未接受血清学产前筛查的产妇生育。孕中期血清学产前筛查产妇21 040例,未筛查组产妇3080例,产前筛查率87.23%;在筛查组中筛查出真阳性并终止妊娠的DS胎儿17例,其他染色体异常23例,NTD 10例。两组共发现DS 31例,NTD 15例,孕中期发生率分别为12.82/万,6.20/万。在筛查组中产前筛查对DS的敏感度73.68%,特异度93.74%,假阳性率为6.26%,阳性预测值为1.05%,阴性预测值为83.33%,99.97%,假阴性率为26.32%;对NTD的敏感度、特异度、假阳性率、阳性预测值、阴性预测值和假阴性率分别为83.33%,99.24%,0.76%,5.88%、99.99%和16.67%。未筛查组产妇生育DS的可能性为38.96/万,生育NTD的可能性为9.74/万。结论产前血清学筛查预测DS和NTD的准确度较高,以新生儿出生缺陷监测结果结合产前诊断数据来评价血清学产前筛查质量是相对准确、可行的方法。随着产前筛查率的提升,活产儿中DS和NTD发生率明显降低。更多还原

【Abstract】 Objective To explore the role and quality of the assessment of serological prenatal screening during the second trimester. Methods Annual incidences of target diseases were statistically analyzed in the birth defect monitoring data and maternal serum prenatal screening data from January 2007 to December 2012 in The First People’s Hospital of Yunnan Province. Incidences of target diseases in pregnancy women with and without prenatal screening in the second trimester were compared to evaluate the accuracy of prenatal screening. Results A total of 24 120 living birth neonates were monitored, in which 14 cases(5.8/10 000) of Down’s syndrome(DS), and 5 cases(2.1/10 000) of open neural tube defects(NTD) were found. The 12 cases of DS and 3 cases of NTD were given birth by mothers who had not taken maternal serum screening during pregnancy. No living birth trisomy-18 syndrome baby was found in the cohort. Totally 21 040 mothers received serological prenatal screening during the second trimester, the other 3080 mothers did not receive the prenatal screening,the screening rate was 87.23%. In the screened group, 17 cases of true positive DS, 10 cases of NTD and 23 cases of other chromosomal abnormalities were identified, and these pregnant women received terminations ofpregnancy subsequently. Totally, there were 31 cases of DS and 15 cases of NTD fetuses found within two cohorts.The incidences of DS and NTD were 12.82/10 000 and6.2/10 000 in the second trimester, respectively. In the screened group, the detection rate, false positive rate, pos-itive predictive value, and false negative rate for DS were 73.68%,6.26%,1.05%,and 2.54/10 000 respectively. The detection rate, false positive rate, positive predictive value, and false negative rate for NTD were 83.33%, 0.76%, 5.88%and 99.99% respectively. But in the unscreened group, the incidences of DS and NTD raised up to 38.96/10 000 and9.74/10 000, respectively. Conclusions The analysis based on data of neonatal birth defect monitoring, prenatal screening and diagnosis data can accurately assess the quality of prenatal screening. With the increase of prenatal screening rate, the incidence of DS and NTD in live birth decreases significantly.更多还原