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目的探讨孕中期三联产前筛查降低先天缺陷儿出生率的重要作用。方法应用时间分辨荧光免疫分析技术对21 985例孕妇于孕中期(14~20+6w)行血清标记物[甲胎蛋白(h AFP)、绒毛促性腺激素(Free HCGβ)和游离雌三醇(u E3)]检测,结合孕妇年龄及孕周、体重,应用lifecycle软件计算唐氏综合征(DS)、18-三体综合征和神经管畸形(NTD)发生风险的概率。高风险孕妇经过遗传咨询知情同意,进行羊水细胞染色体核型分析及B超检查确诊!结果 21 985例孕妇中,高风险1203例,筛查阳性率为5.47%,其中唐氏高风险1037例,阳性率为4.72%,检出15例,筛查高风险不做诊断,出生4例;18三体高风险91例,阳性率为0.41%,检出18三体6例;神经管畸形高风险75例,阳性率0.34%,查出无脑儿4例,脊柱裂2例。接受羊膜腔穿刺术的高危孕妇740例,发现染色体异常34例(不包括各种多态25例)。结论孕中期三联产前筛查对于先天性缺陷儿的宫内诊断具有重要的临床价值,做好产前筛查及产前诊断工作可明显降低出生缺陷,提高人口素质!
Objective To explore the important role of tripartite prenatal screening during pregnancy to reduce the birth rate of children with birth defects. Methods The serum levels of hAFP, Free HCGβ and free estriol were measured in 21 985 pregnant women during the second trimester (14-20 + 6 weeks) using time-resolved fluorescence immunoassay. uE3)], combined with the age of pregnant women and gestational age, weight, lifecycle software to calculate the probability of Down’s syndrome (DS), 18-trisomy syndrome and neural tube defects (NTD) risk. High-risk pregnant women were informed of genetic counseling and confirmed by karyotype analysis and B-ultrasound examination of amniotic fluid cells.Results Of the 21 985 pregnant women, there were 1203 high-risk pregnant women with a positive screening rate of 5.47%, of which 1037 were Down’s high-risk, The positive rate was 4.72%, 15 cases were detected, 4 cases were diagnosed with high risk without screening, 91 cases with high risk of trisomy 18, the positive rate was 0.41%, 6 cases with 18 trisomy 18 were detected. The high risk of neural tube defects 75 For example, the positive rate of 0.34%, found no brain children in 4 cases, 2 cases of spina bifida. In 740 high-risk pregnant women undergoing amniocentesis, 34 cases of chromosomal abnormalities (excluding 25 cases of various polymorphisms) were found. Conclusion Trimester prenatal screening has important clinical value for intrauterine diagnosis of congenital defects. Prenatal screening and prenatal diagnosis can significantly reduce birth defects and improve population quality.