母血清生化二联、三联标记物筛查胎儿唐氏综合征

目的 用母血清生化标记物筛查胎儿唐氏综合征(Down’s syndrome,DS)等先天异常。方法 应用孕妇血清指标和时间分辨荧光免疫分析法对本院1996年11月-2001年3月在本科产前检查的2886例孕妇进行DS胎儿筛查。对高危孕妇作羊腹腔穿刺或早孕绒毛取材以得到胎儿染色体。对应用的指标捡出率及假阳性率进行分析。结果 共捡出11例DS,8例无脑儿;DS检出率3．8‰。结论 妊娠相关血浆蛋白A(PAPP-A)筛查胎儿DS有很好的价值并能使产前诊断时期提前,甲胎蛋白 游离人绒毛膜促性腺激素(AFP freeβ-HCG)可用于检测DS和胎儿异常。

Screening by maternal serum markers for Down's syndrome

OBJECTIVE: To investigate the optimal method of screening for Down's syndrome (DS) with maternal serum mankers. METHODS: Screening by maternal serum markers for Down's syndrome was offered to all 2886 pregnant women in Peking Union Medical Hospital during 1996.11-2001.3. Alpha-fetoprotein (AFP), human chorionic gonadotrophin (free beta-HCG) were used as markers during the first year of pregnancy. Alpha-fetoprotein, free human chorionic gonadotrophin (HCG) and pregnancy-associated plasma protein A (PAPP-A) were used as mid pregnancy and first-trimester markers in next three years. Amniocentesis and (CVS) were done in those defined as risk cases. RESULTS: The detection rate of Down's syndrome by maternal serum markers was 3.8% (11/2886). The proportion of false positive results in group of triple markers (alpha FP, free beta-HCG, PAPP-A) was 5%. CONCLUSIONS: The PAPP-A was a good marker to detect Down's syndrome in early pregnancy and may be used to predict the outcome during mid trimester of pregnancy. The AFP and free beta-HCG can be useful markers to detect Down's syndrome and fetal abnormality. While prenatal diagnostics can be shifted to an early pregnant period.