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目的:对高龄孕妇(AMA)胎儿唐氏综合征(DS)血清筛查和年龄筛查的效能比较,寻求AMA有效经济的筛查方案。方法:对2011~2012年在该院就诊的AMA行血清筛查,高风险者行产前诊断,随访所有孕妇的妊娠结局,计算DS阳性预测值、检出率,同时以高龄为唯一指征行产前诊断的AMA为对照组进行比较。结果:1血清筛查单胎AMA 3 714例,高风险688例(18.52%),行羊膜腔穿刺228例(33.14%),检出DS 10例,DS的阳性预测值4.39%(10/228),随访低风险孕妇无DS患儿出生,DS的检出率为100.00%。对照组行产前诊断216例,未检出DS(只有2例染色体结构异常)。两组筛查DS的阳性预测值差异有统计学意义(P<0.05)。2血清筛查低风险3 026例,15例行产前诊断,检出3例性染色体三体征,1例13三体,1例结构异常,染色体异常发生率为0.17%(5/3 026)。3AMA血清筛查阳性者行产前诊断方案可将羊膜腔穿刺率降低81.07%,节省产前诊断费用69.68%。4妊娠结局随访率高风险84.01%,低风险82.78%;不良结局高风险67例(11.59%)、低风险179例(7.15%),差异有统计学意义(χ2=12.64,P<0.05)。结论:AMA行血清筛查胎儿DS的检出效能明显优于年龄为单一指标的筛查,可以有效降低介入性产前诊断率并大大节省产前诊断费用,是一种高效经济的筛查方案,建议对AMA实施产前血清筛查代替年龄筛查。
OBJECTIVE: To compare the effectiveness of serum screening and age screening of fetus with Down’s syndrome (AMA) in pregnant women (AMA) to find an effective and economical screening program for AMA. Methods: Serum screening of AMA patients in this hospital from 2011 to 2012 was performed. Prenatal diagnosis was performed in high-risk patients. Pregnancy outcomes of all pregnant women were followed up. The positive predictive value and detection rate of DS were calculated. At the same time, the only indication was advanced age AMA prenatal diagnosis of the control group for comparison. Serum screening of 714 cases of singletonic AMA, high risk 688 cases (18.52%), line amniocentesis in 228 cases (33.14%), DS 10 cases were detected, the positive predictive value of DS was 4.39% (10/228 ), Followed up low risk pregnant women without DS children born, DS detection rate was 100.00%. Control group of prenatal diagnosis of 216 cases, no DS was detected (only 2 cases of chromosomal abnormalities). The positive predictive value of screening DS between the two groups was statistically significant (P <0.05). 2 serological screening of low risk 3 026 cases, 15 cases of prenatal diagnosis, detected 3 cases of trisomy, 1 trisomy 13, 1 case of structural abnormalities, the incidence of chromosomal abnormalities was 0.17% (5/3 026) . 3AMA serum screening positive prenatal diagnosis program can reduce the amniocentesis rate of 81.07%, saving 69.68% of the cost of prenatal diagnosis. 4 The follow-up rate of pregnancy outcome was 84.01%, low risk was 82.78%; high risk of adverse outcome was 67 (11.59%) and low risk was 179 (7.15%), the difference was statistically significant (χ2 = 12.64, P <0.05). Conclusion: AMA serum screening screening fetus DS detection efficiency was significantly better than the age of a single indicator of screening, can effectively reduce the rate of interventional prenatal diagnosis and greatly save the cost of prenatal diagnosis, is a cost-effective screening program , It is recommended to implement AMA prenatal serum screening instead of age screening.