早孕期联合筛查预测唐氏综合征的效果分析

Performance of first-trimester combined screening in the prediction of fetal Down’s syndrome

摘要:

目的：分析2010年3月－2011年12月我院早孕期联合筛查对唐氏综合征（Down’s syndrome，DS）的预测效果。方法：收集符合标准的研究对象共计7 367 例，回顾性研究这些对象的妊娠结局，比较颈透明层厚度（nuchal translucency thickness，NT）单独使用及联合筛查预测DS的效果。联合筛查风险切割值取1∶300，对高危对象与低危对象的妊娠结局进行比较；以NT≥3 mm为筛查阳性标准，比较NT单独筛查及联合筛查，在预测效果上是否有差异。结果：7 367 例筛查对象中，联合筛查阳性率为3.4%（252/7 367），实际染色体异常发生率为 0.12%（9/252）；高危组与低危组相比，高危组存在显著的不良妊娠结局高风险（不良妊娠结局6.0% vs. 1.0‰，P＜0.001，染色体异常 3.6% vs. 0.1‰，P＜0.001）；NT值作为单独指标时，DS检出率为77.8%，假阳性率为4.4%，而联合筛查时，DS检出率为88.9%，假阳性率为3.3%。结论：联合筛查能有效预测染色体异常且联合筛查的预测效果优于NT值作为单独指标的效果，应尽量推荐孕妇进行早孕期联合筛查。

Abstract:

Objective：To analyze the performance of first-trimester combined screening in the prediction of fetal Down’s syndrome （DS）. Methods：Totally 7 367 cases met the criteria were collected and their pregnant outcomes were analyzed retrospectively. Pre-diction of DS when using nuchal translucency thickness（NT） alone was compared with that when using first-trimester combined screening. Risk cutoff value of first-trimester combined screening was set at 1∶300 and pregnancy outcomes of high-risk and low-risk objects were compared. Performances of NT and first-trimester combined screening were compared taking NT≥3 mm as positive cri－teria. Results：Among the 7 367 cases，positive rate of first-trimester combined screening was 3.4%（252/7 367） and incidence of actu－al abnormal chromosomes was 0.12%（9/252）. High risk group had higher risk of adverse pregnancy outcomes compared with that of low risk group（adverse pregnancy outcomes：6.0% vs. 1.0‰，P＜0.001；abnormal chromosomes：3.6% vs. 0.1‰，P＜0.001）. When using NT value as the only criterion，detection rate of DS was 77.8% and false positive rate was 4.4%；when using first-trimester combined screening，detection rate of DS was 88.9% and false positive rate was 3.3%. Conclusions：First-trimester combined screening can ef－fectively predict abnormal chromosomes and its effect is superior to that of NT alone，therefore，it is recommended for pregnant woman.