孕早期超声诊断联合血清学筛查在检测唐氏综合征的价值

Value of ultrasound diagnosis with serological screening in the detection of down syndrome in early pregnancy

目的 探讨孕早期超声与血清学联合筛查对诊断唐氏综合征的价值.方法 回顾性分析2004年8月至2012年8月来我院门诊的2522例9～ 14周孕产妇的临床资料,采用时间分辨荧光免疫分析法检测孕妇血清中妊娠相关血浆蛋白A（PAPP-A）和游离β-人绒毛膜促性腺激素（Fβ-HCG）,联合超声测定胎儿颈部透明膜厚度（NT）.结果 2522例孕妇中,血清学检查阳性率4.3％,检出率66.7％；NT检查阳性率1.0％,检出率66.7％；两则结合阳性率4.5％,检出率100％.血清学联合彩色超声NT检查能提高检测率.血清学联合彩色超声NT检查阳性例数113例,其中异常染色体核型共14例,4例为DS核型,10例其他异常染色体核型.113例唐氏综合征筛查高风险孕妇不良结局44例,占38.9％ （44/113）,2409例筛查低风险孕妇不良结局总数201例,占8.1％（201/2409）,两组不良结局比较,差异有统计学意义（x2=115.19,P＜0.01）.结论 PAPP-A、Fβ-HCG联合超声测量胎儿颈部NT筛查,不仅可提高孕妇孕早期DS检出率,而且对孕 妇的妊娠结局有一定指导意义.

Objective To investigate the value of ultrasound and serological screening for early diagnosis of down syndrome in early pregnancy.Methods Clinical data of 2522 pregnant women with 9 to 14 weeks of pregnancy were retrospectively analyzed from August 2004 to August 2012 in our hospital.Maternal serum pregnancy-associated plasma protein A （PAPP-A） and free beta-human chorionic gonadotropin （F β hCG） were detected by time-resolved fluorescence immunoassay,and the film thickness of nuchal translucency （NT） was detected by ultrasound.Results Among 2522 pregnant women,serology positive rate was 4.3%,the detection rate was 66.7%.NT-positive rate was 1.0%,the detection rate was 66.7%.Positive rate for combination of two methods was 4.5%,the detection rate was 100%.Serological combined with color Doppler ultrasound NT examination could improve the detection rate.113 positive cases by serology and color ultrasonic NT check,there were 14 cases for abnormal karyotype,4 cases for DS karyotype,10 cases for other abnormal chromosome karyotypes.About 113 cases for down syndrome screening high-risk,there were 44 cases for adverse outcomes,accounting for 38.9% （44/113）,about 2409 cases for screening low-risk,there were 201 cases for adverse outcomes,accounting for 8.1% （201/2409）,there was statistical significant difference （x 2=115.19,P〈0.01）.Conclusion PAPP-A,F β-HCG and ultrasonic measurement fetal neck NT can not only improve the DS detection rate in pregnant women in early pregnancy,but also has guiding significance for pregnancy outcomes.