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目的 探讨孕妇血清标记物甲胎蛋白 (AFP)和游离绒毛膜促性腺激素 (F - βHCG)对孕中期孕妇进行唐氏综合征为主的先天缺陷筛查的作用。方法 对孕中期 (14～ 2 0 6 W)妇女进行上述二项血清生化指标检测 ,经过软件计算风险 ,对可能影响检测结果的部分因素 ,如孕妇年龄、体重、孕周等加以分析校正 ,对高风险孕妇 ,进一步行羊水或脐血染色体检查及B超进行确诊。每例受检的孕妇随访追踪到出生。结果 871例孕妇中 ,发现唐氏综合征 2例 ,X -三体综合征 1例 ,平衡易位携带者 3例 ,其它胎儿异常 6例。结论 孕中期血清AFP、F -βHCG二项血清生化指标联合检测 ,作为筛查胎儿先天缺陷 ,尤其是胎儿染色体三体征及表皮缺陷、畸形有效可行。筛查结果高危孕妇应进一步行羊水染色体或B超检查确诊 ,以减少缺陷儿出生
Objective To investigate the role of pregnant women serum markers AFP and F - βHCG in the screening of Down’s syndrome-predominant birth defects in second trimester pregnant women. Methods The above two biochemical indexes were detected in the second trimester of pregnancy (14-206 W). The risks of software were calculated and some factors that might affect the test results, such as the age, weight and gestational age of pregnant women, were analyzed and corrected. High-risk pregnant women, further line of amniotic fluid or cord blood chromosomes and B-diagnosed. Follow-up of each pregnant woman tested was followed up to birth. Results Among 871 pregnant women, Down syndrome 2 cases, X - trisomy syndrome 1 case, balance translocation carrier 3 cases and other fetus abnormalities 6 cases were found. Conclusions Interim pregnancy serum AFP, F-βHCG two serum biochemical indicators combined detection, as screening for fetal congenital defects, especially fetal trisomy and epidermal defects, deformity is feasible. Screening results at high risk of pregnancy should be further confirmed by amniotic fluid chromosome or B-ultrasound to reduce the birth of defective children