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目的探讨鄞州地区孕中期产前筛查和产前诊断在干预出生缺陷的价值。方法抽取14398例预产年龄<35周岁、孕15-20w的孕妇静脉血3ml,检测孕妇血清中AFP、β-HCG和uE3三项生化指标,结合孕妇年龄、孕周、体重等因素,经专用软件估算孕妇可能怀有三种缺陷的风险率。对血清筛查出的高风险孕妇与年龄≥35周岁的孕妇均建议进行羊水或脐血染色体分析及加强B超检查等临床监测措施。结果 14398例血清学筛查孕妇中NTD高风险43例,21-三体高风险222例,18-三体高风险7例。将年龄≥35周岁690例孕妇直接列入高风险,高风险随访数1078人,结果确诊NTD 4例,18-三体1例,21-三体5例,其它各种畸形72例。结论孕中期产前筛查结合产前诊断,是干预先天性缺陷儿发生的有效方法。
Objective To explore the value of prenatal screening and prenatal diagnosis during pregnancy in Yinzhou district in intervention for birth defects. Methods A total of 14398 cases of pregnant women with predictive age of <35 years and 15-20 weeks of pregnancy were enrolled in the study. Three biochemical markers of serum AFP, β-HCG and uE3 in pregnant women were detected. Combined with the age, gestational age and body weight of pregnant women, The software estimates the risk of pregnant women pregnant with three defects. Serum screening of high-risk pregnant women and women over 35 years of age are recommended for amniotic fluid or cord blood chromosome analysis and to strengthen the B-ultrasound and other clinical monitoring measures. Results A total of 14 398 serological screening pregnant women with high risk of NTD in 43 cases, 222 trisomy 21 and trisomy 18 with high risk in 7 cases. 690 pregnant women ≥35 years of age were directly enrolled in 1078 high-risk and high-risk follow-up patients. The results confirmed 4 cases of NTD, 1 case of 18-trisomy, 5 cases of 21-trisomy, and 72 cases of other malformations. Conclusion The prenatal screening combined with prenatal diagnosis during the second trimester is an effective method to interfere with the congenital defects.