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目的比较早中孕期孕妇唐氏综合征(Down’s syndrome,DS)产前血清学筛查方法及其临床价值,寻求预防和减少DS患儿出生的更优方法。方法采用时间分辨荧光免疫法检测孕妇早孕期血清的妊娠相关蛋白-A(pregnancy associated plasma protein-A,PAPP-A)和β-人绒毛膜促性腺激素(β-human chorionic gonadotropin,β-HCG)及其中孕期的甲胎蛋白(alpha fetoprotein,AFP)、β-HCG和游离雌三醇(free estriol,u E3),运用Lifecycle分析软件计算DS风险值,建立三亚市DS血清学产前筛查各个相关指标的中位数。同时对其筛查结果为高风险者,行B超引导下羊水穿刺术,取羊水细胞培养,且作染色体核型分析。随后追踪孕妇的妊娠结局。结果 (1)在7613例早中孕期的先后受检孕妇中,早孕期DS筛查高风险者18例及中孕期15例,而早中孕期联合筛查高风险者11例。(2)对所有DS筛查高风险孕妇行羊水穿刺检测,确诊为DS者仅9例,但发生漏诊早中孕期分别为2和1例。早孕筛查灵敏度81.82%、特异性99.88%、阳性预测值50%、阴性预测值99.97%,中孕筛查灵敏度90%、特异性99.92%、阳性预测值60%、阴性预测值99.99%,早中孕联合筛查灵敏度90%、特异性99.97%、阳性预测值81.82%、阴性预测值99.99%。其中,早中孕联合筛查的阳性预测值明显高于早孕或中孕期,差异均有显著性统计学意义(P<0.01),但中孕较早孕期,差异无统计学意义(P>0.05)。(3)血清AFP浓度随孕妇孕14+1~21+6周的增长而增加,但β-HCG则相反。结论早中孕期DS产前血清学联合筛查方案是一种有效且必要的手段,建立三亚市DS血清学产前筛查AFP及β-HCG的中位数对本地区DS高危孕妇筛查具有重要的参考意义。
Objective To compare the prenatal serological screening methods and their clinical value of Down’s syndrome (DS) in pregnant women during the first trimester of pregnancy, and to find a better way to prevent and reduce the birth of DS children. Methods The serum levels of pregnancy associated plasma protein-A (PAPP-A) and β-human chorionic gonadotropin (β-HCG) in pregnant women were detected by time-resolved fluorescence immunoassay And pregnant women with alpha fetoprotein (AFP), beta-HCG and free estriol (uE3), using Lifecycle analysis software to calculate the value of DS risk, to establish the DS serological prenatal screening in Sanya Median of the relevant indicator. At the same time the screening results for those who are at high risk, under the B-guided amniocentesis, amniotic fluid cell culture, and for karyotype analysis. Followed by the pregnancy outcome of pregnant women. Results (1) Of the 7613 pregnant women who were tested in early and middle pregnancy, 18 were at high risk of DS screening in early pregnancy and 15 were in middle pregnancy, while 11 were at high risk of early screening. (2) Amniocentesis was performed on all DS screening high-risk pregnant women. Only 9 cases were diagnosed as DS, but 2 and 1 cases were misdiagnosed as early and during pregnancy. The screening sensitivity of early pregnancy was 81.82%, the specificity was 99.88%, the positive predictive value was 50%, the negative predictive value was 99.97%, the sensitivity was 90%, the specificity was 99.92%, the positive predictive value was 60%, the negative predictive value was 99.99% Pregnancy screening screening sensitivity 90%, specificity 99.97%, positive predictive value 81.82%, negative predictive value 99.99%. Among them, the positive predictive value of combined screening of early pregnancy, middle and early pregnancy was significantly higher than that of the first trimester or the second trimester, the difference was statistically significant (P <0.01), but there was no significant difference in the first trimester pregnancy (P> 0.05 ). (3) Serum AFP levels increased with the pregnant women pregnant 14 + 1 ~ 21 + 6 weeks of growth, but β-HCG is the opposite. Conclusion DS prenatal serology combined screening program is an effective and necessary means in the early to middle pregnancy. It is important to establish the median of AFP and β-HCG of DS serology prenatal screening in Sanya City for the screening of pregnant women with high risk of DS in this area The reference meaning.