孕中期血清标记物二联筛查用于染色体异常产前筛查

Prenatal screening for chromosome abnormalities with double serum markers in the second- trimester of pregnancy

目的结合四川省实际情况，探讨孕中期血清标记物二联筛查（AFP＋游离β-hCG）在胎儿染色体异常产前筛查中的临床价值。方法应用时间分辨荧光法检测孕妇血清中的甲胎蛋白（AFP）和游离人绒毛膜促性腺激素β亚单位（游离β-hCG）的含量，结合孕妇的年龄、孕周、体重、B超结果等资料，经过风险软件计算后，来筛查胎儿染色体的异常，并以羊水染色体核型分析后的结果来最终诊断。结果筛查的43067名孕妇中，21-三体高风险、18-三体高风险、预产年龄≥35岁及AFPMOM值≤0．4、β-hCGMOM值≤0．3或≥2．5的人次，共计6214例，1735名孕妇接受了羊水细胞染色体检查。共检出染色体异常23例。结论孕中期血清标记物二联筛查对减少四川地区染色体异常患儿的出生，有着重要的现实意义。

Objective To examine the clinical value of double test with α-fetal protein （AFP） and free β-human chorionic gonadotropin （HCG） as serum markers for prenatal screening of fetal chromosome abnormalities in the second-trimester of pregnancy. Methods Serum concentrations of AFP and Free β-HCG were examined by DELFLA. The laboratory results were combined with in- formation on pregnant woman＇ s age, gestational weeks, weight, and uhrasonographic findings to calculate the probability of having a fetus with chromosome abnormalities by risk evaluation software. Woman having a fetus with a high risk was referred to amniotic chro- mosomal karyotyping. Results Among the 43 067 pregnant women screened, 6 214 had a high risk of Down Syndrome or Edwards＇ Syndrome, aged ≥35 years, or had an AFP value of MOM ≤0. 4 or β-hCG value of MOM ≤0. 3 or ≥2. 5. Of the 1 735 pregnant women received prenatal diagnosis, 23 fetuses were diagnosed with chromosome abnormalities. Conclusion The double test with AFP and free β-HCG as serum markers in the screening for chromosome abnormalities in the second-trimester of pregnancy has impor- tant clinical implications.