无创DNA检测与孕早中期血清学筛查在胎儿染色体疾病中的应用效果

Application effect of non-invasive DNA detection and serological screeningin the early and middle trimester of pregnancy in fetal chromosomal diseases

目的探讨无创DNA检测与孕早中期血清学筛查在胎儿染色体疾病中的应用效果。方法选取2014年2月至2017年8月襄阳市妇幼保健院接收的5000例无创DNA检测与孕早中期血清学筛查的孕妇作为研究对象。采用时间分辨荧光免疫分析技术对孕妇血清标本检测,孕早期采用二联筛查法检测(PAPP-A和β-hCG),孕中期采用三联筛查法检测(AFP、β-hCG和uE3),孕早中期联合检测采用四联筛查法,即将孕中期检测的AFP、β-hCG和uE3结果匹配孕早期的PAPP-A结果,同时与无创DNA检测和对孕妇基本资料相关因素进行校正,联合计算筛查风险值。分析5000例孕妇的筛查结果、产前诊断结果和引产或随访结果,并比较孕早期或中期血清筛查、早中期联合筛查与无创DNA检测结果。结果5000例孕妇中孕早期或中期血清学筛查结果显示高风险共170例(其中有64例孕早期和中期均为高风险),而孕早中期联合筛查结果显示高风险共76例;而无创DNA与孕早中期血清学筛查唐氏综合征和爱德华氏综合征的检出率明显高于单独孕早期或中期血清学筛查结果,差异具有统计学意义(P<0.05),而假阳性率明显低于单独孕早期或中期血清学筛查结果,差异具有统计学意义(P<0.05)。结论无创DNA检测与孕早中期血清学筛查染色体疾病可显著提高检出率并降低假阳性率,呼吁孕妇积极接受无创DNA检测与孕早中期联合筛查可有效降低新生儿出生缺陷的发生率,具有重要意义,值得在临床推广。

Objective To investigate the application of non-invasive DNA detection and serological screening in the early and middle trimester of pregnancy in fetal chromosomal diseases.Methods A total of 5000 pregnant women who received non-invasive DNA testing and serological screening in the early and middle trimester of pregnancy from February 2014 to August 2017 in our hospital were enrolled in the study.Time-resolved fluorescence immunoassay was used to detect serum samples from pregnant women.Two-screen screening test(PAPP-A andβ-hCG)in the early trimester,triple screening test(AFP,β-hCG and uE3)in the middle trimester,and four-screen screening test in the early and middle pregnancy were implemented.In the four-screen screening test,the results of AFP,β-hCG and uE3 were matched the results of PAPP-A,and were corrected with non-invasive DNA detection and factors related to basic data of pregnant women,and combined to calculate the risk value.The screening results,prenatal diagnosis,and induction or follow-up results of 5000 pregnant women were analyzed,and the results of serum screening,early-and mid-term combined screening,and non-invasive DNA testing were compared between early pregnancy and mid-term.Results Serum screening in 5000 pregnant women showed a high risk of 170 cases(64 cases of high risk in early and middle trimester of pregnancy),and combined screening results showed a high risk of 76 cases.The detection rate of non-invasive DNA and serological screening in the early and middle trimester of pregnancy for Down syndrome and Edwards syndrome was significantly higher than that of serological screening in early or middle trimester of pregnancy alone(P<0.05),while the false positive rate was significantly lower(P<0.05).Conclusions Non-invasive DNA detection and serological screening of chromosomal diseases in the early and middle trimester of pregnancy can significantly improve the detection rate and reduce the false positive rate,hereby effectively reducing the birth defects of newborns,which is of great significance and deserves to be promoted in the clinic.