孕期优生筛查对出生缺陷干预效果的影响分析

目的探讨检测孕妇血清中妊娠相关蛋白A(PAPPA)、甲胎蛋白(AFP)、绒毛膜促性腺激素(β-HCG)水平,结合B超检查、羊水检测等手段,对江苏省苏北某地区目标疾病唐氏综合征、神经管缺陷进行筛查和诊断。方法本筛查采用时间分辨荧光法测定孕妇血清中PAPPA、AFP、β-HCG水平,结合各种相关的影响因素,进行风险评估。结果接受产前筛查的中孕孕妇1807例中,共筛查出中孕高风险21-三体、18-三体、神经管缺损110例,阳性率达6.09%;且高危孕妇筛查阳性率随着孕妇年龄的增加而升高。110例筛查阳性孕妇中,有84例孕妇接受羊水染色体检查,共检查出染色体异常2例,其中21-三体1例;18-三体1例;B超检查出神经管缺损1例(脊柱裂1例),脑积水1例,先天性心脏病2例。均行引产术,引产率100%。结论采取检测孕妇血清中PAPPA、AFP、β-HCG水平,结合B超、羊水检测手段,对筛查唐氏综合征、神经管缺陷等出生缺陷,降低其出生率有重要意义。

Early Pregnancy Eugenic Screening Intervention of Birth Defects

Objective To investigate the maternal serum pregnancy-associated plasma protein-A,alpha-fetoprotein,beta-human chorionic gonadotrophin.Combination of B-ultrasound,amniotic fluid detection means for screening and diagnosis of Jiangsu province in an area of target diseases Down＇s syndrome,neural tube defects.Methods This screening using time-resolved fluorescence method for the determination of PAPPA the pregnant women,serum,AFP,β-HCG level,combined with a variety of related factors,risk assessment.Results 1807 cases of second trimester pregnant women receiving prenatal screening were screened in pregnancy high-risk 21-trisomy 18-body,neural tube defects in 110 cases,the positive rate of 6.09%;and screening of high risk pregnant women the positive rate increased with increasing maternal age.110 cases of screening-positive pregnant women,84 cases of pregnant women receiving amniotic fluid chromosome,check out chromosomal abnormalities in two cases,21 of them-three-body one cases;18-one cases of trisomy;B ultrasound trance administered defect in one case（one cases of spina bifida）,hydrocephalus one case,two cases of congenital heart disease.Underwent induction of labor,labor induction rate of 100%.Conclusion Take the detection of maternal serum pregnancy-related protein,alpha-fetoprotein,beta-human chorionic gonadotrophin level,combined with B ultrasound,amniotic fluid detection means screening for Down syndrome,neural tube defects,birth defects,to reduce its birth rate is important.