1037例高风险孕妇产前诊断结果分析

目的探讨孕中期孕妇检测AFP、β-hCG和μE3对筛查出生缺陷的诊断价值。方法采用Roche cobas e601电化学发光免疫分析仪检测2011年1月-2012年12月唐山市妇幼保健院产前门诊孕中期(15~20周)孕妇血清甲胎蛋白(AFP)、β绒毛膜促性腺激素(β-hCG)和游离雌三醇(μE3)浓度,利用配套的产前筛查软件综合评估计算孕妇胎儿21-三体综合征、18-三体综合征和神经管缺陷的风险度,对筛查出的高危孕妇进行产前诊断。结果筛查21 481例孕妇中,高风险孕妇1 073例。其中21-三体综合征高风险孕妇923例,筛查阳性率4.30%,18-三体综合征高危孕妇59例,筛查阳性率0.27%,神经管缺陷91例,筛查阳性率0.42%。经羊水细胞染色体核型分析和出生缺陷监测,共诊断21-三体综合征4例,未见18-三体综合征,其他染色体异常3例。经B超检查,检出神经管缺陷3例。结论孕中期血清三联产前筛查法是可靠的无创性产前筛查方法,可降低出生缺陷的发生,结合羊水染色体核型分析和B超检查,对预防出生缺陷有重要临床应用价值。

Analysis on the prenatal diagnosis results of 1,037 cases of high-risk pregnant women

Objective To explore the diagnostic value of serum α- fetoprotein （AFP）, β- human chorionic gonadotropin （β hCG） and unconjugated estriol （μE3） on the screening of congenital fetal abnormality in pregnant women at second trimester. Methods Roche cobas e601 automatic electro- chemiluminescence immunoassay analyzer was used to detect the serum levels of AFP, β- hCG and μE3 in pregnant women （during 15 -20 gestational weeks） from Obstetric Clinic, Tangshan Municipal Maternal and Child Health Hospital from January 2011 to December 2012. The probabilities of fetuses suffering from Down＇ s syn- drome, 18 trisomy syndrome and neural tube defect were comprehensively estimated by prenatal screening test software. Cell chromosomes and ultrasonography were also done in high- risk pregnant women. Results Among 21,481 pregnant women screened, 1,073 were detected at high risk, including 923 at high risk for Down＇s syndrome, 59 for 18 trisomy syndrome and 91 for neural tube defect, with the detectable rates of 4.30 %, 0.27 % and 0.42 %, respectively. Amniocentesis was performed on high - risk pregnant women and the results showed that there were 4 cases of Down＇ s syndrome and 3 cases of other abnorrnali- ties, but no 18 trisomy syndrome case was found, 3 cases of neural tube defect were diagnosed by ultrasonography. Conclusions Combined detection of serum AFP, β- HCG and/μE3 in pregnant women at second trimester is a reliable and non - invasive prenatal screening test. It has important clinical application value to reducing the incidence of birth deficiency through prenatal screening test combined with amniocentesis and ultrasonography.