甲胎蛋白联合孕妇年龄筛查胎儿染色体病

Screening for chromosomal abnormality using maternal serum AFP and maternal age

目的 :探讨孕妇血清甲胎蛋白 (alpha- fetoprotein,AFP)及年龄在产前筛查染色体病胎儿中的价值。方法 :对 35 31例孕妇血清 AFP水平、年龄及其胎儿的染色体核型进行分析 ,探讨孕妇血清 AFP水平及孕妇年龄 (age,AGE)筛查染色体病胎儿的灵敏度及假阳性率。结果 :35 31例胎儿中 ,经细胞学检查确诊染色体核型异常共 32例 ,其中 2 1三体 10例、 18三体 2例、 13三体 2例、 4 5 ,X1例、其他非整倍体 3例、部分三体综合征 6例、平衡易位或倒位8例。以 AFP、孕妇年龄为筛查指标 ,其价值 AFP+AGE最佳 ,AGE次之 ,AFP最低。以假阳性率 5 %为标准 ,三种方式筛查分别可检测出 2 5 %、 2 2 %、 16 %染色体病胎儿 ;以假阳性率 15 %为标准 ,则分别可检测出 5 0 %、 37%、 31%染色体病胎儿。结论 :AFP结合孕妇年龄比单项 AFP筛查染色体病胎儿的灵敏度更高 ,假阳性率更低。

Objective: To determine the value of maternal serum α-fetoprotein (AFP) and maternal age in screening for fetal chromosomal abnormality. Methods: To analyze 3 531 maternal serum α-fetoprotein levels, maternal ages and their babies' karyotype and determine the sensitivity and false positive rate for screening fetal chromosomal abnormalities. Results: 32 chromosomal abnormality fetuses were detected from 3 531 fetuses. The fetuses included those with trisomy 21, trisomy 18, trisomy 13. Taking AFP combined with maternal age, maternal age and AFP as items, the chromosomal abnormality fetuses would be detected to be 25%, 22% and 16% respectively standardized by a false positive rate of 5%. They would respectively detect 50%, 37% and 31% of affected pregnancies for a false positive rate of 15%. Conclusions: AFP combined with maternal age would achieve higher detection rate and lower false positive rate than AFP and maternal age alone in screening for chromosomal abnormality fetuses.