6341例孕中期唐氏综合征筛查结果分析

目的分析重庆市某医院2012-2018年6341例孕妇孕中期唐氏综合征(DS)的筛查结果,探讨血清标志物筛查在孕中期产前染色体异常疾病筛查中的应用价值和影响因素。方法选取2012年4月-2018年12月在重庆市某医院行DS产前筛查的孕妇6341例作为研究对象。采用化学发光法检测研究对象孕中期血清甲胎蛋白(AFP)、游离β-人绒毛膜促性腺激素(freeβ-hCG)及未结合雌三醇(uE 3)水平,结合研究对象产前检查资料,应用专业软件计算胎儿神经管缺陷(NTD)、18-三体综合征(ES)和DS的风险值。结果研究对象中,共531例被检出染色体异常高风险,检出率为8.37%(531/6341)。其中DS高风险403例,检出率为6.36%(403/6341),ES高风险62例,检出率为9.78‰(62/6341),NTD高风险66例,检出率为10.41‰(66/6341)。其中31~46岁年龄组研究对象DS高风险检出率为14.86%(262/5392),明显高于17~30岁年龄组的4.86%(141/949),且差异具有统计学意义(P<0.05);26~46岁年龄组研究对象ES高风险检出率为13.38‰(47/3513),明显高于17~25岁年龄组的5.30‰(15/2828),且差异具有统计学意义(P<0.05)。不同孕周研究对象的DS高风险检出率比较,差异具有统计学意义(P<0.05),其中孕14周、15周及21周研究对象的DS高风险检出率较高;不同孕周研究对象的ES高风险检出率比较,差异具有统计学意义(P<0.05),孕14周、15周及16周研究对象的ES高风险检出率较高;不同孕周研究对象的NTD检出率差异无统计学意义(P>0.05)。不同体质量组研究对象的DS,ES及NTD高风险检出率的差异均无统计学意义(P>0.05)。结论孕中期血清标志物筛查对降低出生缺陷具有重要作用。高龄孕产妇孕育的胎儿患ES及DS的风险较高,早育以及科学、规范、适时、合理的产前筛查是降低先天缺陷儿出生率,提高人口素质的重要保证。

Analysis of screening results of Down Syndrome in second trimester for 6341 cases

Objective To analyze the serological screening results of Down Syndrome(DS)in second trimester for 6341 cases in a hospital in Chongqing from 2012 to 2019,and to investigate the applicative value and influencing factor of serological screening on prenatal chromosome abnormality in second trimester.Methods A total of 6341 pregnant women underwent DS prenatal screening in a hospital in Chongqing from April 2012 to December 2018 were selected as study objects.The serum alpha-fetoprotein(AFP),free human chorionic gonadotropin(freeβ-hCG)and free estradiol(uE 3)in the second trimester of 6341 pregnant women were detected by chemiluminescence kit.Combined with antenatal examination,the value risk of fetal DS,18-Edwards′s Syndrome(ES)and neural tube defects(NTD)were counted by professional software.Results Among all study objects,531 were detected with high-risk chromosome abnormality,with a detection rate of 8.37%(531/6341).Among the high risk cases,403 cases were high risk of DS,with a positive rate of 6.36%(403/6341),62 cases were high risk of ES,with a positive rate of 9.78‰(62/6341),and 66 cases were high risk of NTD,with a positive rate of 10.41‰(66/6341).The positive rate of DS in the age group 31 to 46(14.86%,262/5392)was significantly higher than that in the age group 17 to 30(4.86%,141/949),with statistically significant difference(P<0.05).The positive rate of ES in the group aged 26 to 46(13.38‰47/3513)was significantly higher than that in the group aged 17 to 25(5.30‰,15/2828),with statistically significant difference(P<0.05).DS detection rate for pregnant women in different gestational weeks was different,with statistically significant difference(P<0.05).DS detection rate in the 14 th week,15 th week and 21st week was relatively higher.ES detection rate for pregnant women in different gestational weeks was different,with statistically significant difference(P<0.05).ES detection rate in the 14 th week,15 th week and 16 th week was relatively higher.NTD detection rate for pregnant women in different gestational weeks had no statistically significant difference(P>0.05).Differences of DS,ED and NTD in different body mass groups had no statistical significance(P>0.05).Conclusion Serological screening in second trimester plays an important role in reducing birth defects.Fetus with an advanced-age mother has a higher risk of DS and ES,therefore,early pregnancy and scientific,standardized,timely and suitable prenatal screening can reduce the birth rate of birth defects and enhance the population quality.