黑龙江地区15549例孕中期母体血清产前筛查及结果分析

Result analysis of prenatal screening for Down syndrome in 15 549 mid-pregnancy woman in Heilongjiang

目的：探讨孕妇孕中期（15～20＋6周）血清标志物甲胎蛋白（α-fetoprotein，AFP）、人绒毛膜促性腺激素游离的β亚基（f-βHCG）和游离雌三醇（uE3）在胎儿唐氏综合征（DS）、18-三体综合征和开放性神经管畸形（ open neural tube malformation，NTD）筛查中的应用。方法采用时间分辨免疫荧光技术检测孕妇血清中AFP、F-βHCG和uE3的浓度（三联法），结合孕妇年龄、孕周、体重、是否双胎、有无糖尿病史、吸烟史等因素，采用评估软件计算胎儿患DS、18-三体综合征和NTD的风险概率。结果对15549例孕妇筛查结果进行分析，DS高危孕妇782例，阳性率5.03％；18-三体综合征高危孕妇59例，阳性率0.38％；开放性神经管缺陷高危孕妇84例，阳性率0.54％。经羊水穿刺细胞培养确诊DS 9例，18-三体综合征7例，其他染色体异常10例，经超声确诊NTD 6例。结论对孕中期孕妇进行AFP、f-βHCG和uE3联合筛查能够提高唐氏综合征、18-三体综合征和开放性神经管缺陷患儿的检出率，显著降低需要进行创伤性产前诊断的孕妇比例，是预防唐氏综合征患儿出生的重要途径。

Objective To investigate the application of prenatal screening for Down syndrome （ DS） , trisomy 18 syndrome and neural tube defects （ NTD） by detecting serum α-fetoprotein （ AFP ） , free β-HCG （ f-βHCG ） and free estriol in pregnant woman （ 15 ~20 ＋6 weeks ） . Methods Serum AFP, free β-HCG （ f-βHCG ） and unconjugated estriol （ uE3 ） concentra-tions in pregnant woman were detected by time-resolved fluoroimmunoassay.Then the risk was evaluated by use of statistical software combined with age, gestational weeks, weight, always unusually gravid history, without diabetic, smoking history and other factors.Results Among 15 549 pregnant women, 782 pregnant women were found with high risk of Down syndrome, accounting for 5.03%;59 pregnant women were found with high risk of trisomy 18 syndrome, accounting for 0.38%;84 pregnant women were found with high risk of neural tube defect,ac-counting for 0.54%.Nine cases, 7 cases, 10 cases and 6 cases were definitely diagnosed as Down syndrome, trisomy 18, other chromosome abnormalities and neural tube defect,respec-tively.Conclusion Prenatal screening is an effective mean of prediction severe congenita1 de-formity, which can reduce the birth rate of DS and the incidence rate of invasive antenatal ex-amination.