孕中期血清及超声筛查唐氏综合征临床意义

Clinical significance of combining second trimester serum and ultrasound screening for Down syndrome

目的：探讨孕中期血清学三联筛查和超声筛查对筛查胎儿唐氏综合征的临床意义。方法回顾性分析2010年至2013年在复旦大学附属妇产科医院分娩，单胎，孕妇在妊娠14＋1-19＋6周曾行血清三联筛查，在妊娠18＋1-23＋6行超声筛查的孕妇及其新生儿的资料。结果共有24368例孕妇及其新生儿，最终确诊唐氏综合征35例，发生率为0.14%。其中，经血清三联筛查高危（〉1∶380）产妇有1215例，确诊唐氏综合征14例，灵敏度为40.0%、特异度为95.06%、正确指数为94.99%；经超声筛查发现软指标阳性1142例，确诊唐氏综合征11例，灵敏度为31.43%、特异度为95.35%、正确指数为95.26%；血清三联筛查或超声筛查任一项异常的高危孕妇2178例，确诊唐氏综合征患儿21例，灵敏度为60.00%、特异度91.14%、正确指数91.09%；血清三联筛查及超声筛查2项均异常的高危孕妇112例，确诊唐氏综合征患儿4例，灵敏度为11.43%、特异度99.56%、正确指数99.43%。结论血清学筛查三联高危或超声软标记阳性的孕妇，均应进行染色体核型分析，在一定假阳性率前提下减少漏诊，提高筛查效率。

objectives To explore the clinical significance of the triple screening method and fetal sonographic markers in Down syndrome screening. Methods The retrospective study included maternal blood serum triple-marker screening per-formed in normal singleton pregnancies at 14＋1 to 19＋6 weeks and ultrasonography screening for fetal chromosomal trisomy at 18＋1 to 23＋6 weeks from 2010 to 2013. Results In 24 368 pregancies, Karyotype analysis reveal 35 Down syndromes, the incidence is 0.14%（35/24 368）. 25/35 were pregnancies with an expected date of delivery lower than 35 years old and 10/35 were pregnan-cies with an expected date of delivery higher than 35 years old. In 1 215 pregnancies, second-trimester serum screening showed high risk （cutoff〉1：380）, 14 were confirmed as Down syndromes （ sensitivity 40%;specificity 95.06%）. In 1 142 pregnant women showed ultrasonography abnormalities, of which 11 were found to have Down syndrome （sensitivity 60%;specificity 91.09%）. In 112 pregnancies, second-trimester serum screening and ultrasonography showed high risk, 4 were conformed as Down syn-drome （sensitivity 11.43%;specificity 99.56）. Conclusions The most effective method of screening for Down syndrome is by maternal serum biochemistry. Ultrasonography is important in screening fetal trisomy 21. combined screening methods can improve the detection rate of trisomy 21.