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筛查孕妇血清以帮助诊断胎儿21三体,在很多地区已成为产前检查的一部分。对筛查结果阳性者采用羊膜腔穿刺术,取材做进一步染色体核型分析。羊膜腔穿刺术除检测21三体外,还可检测在胎儿中较常见的其它几种染色体数目和结构异常。 检测孕13～18周妇女血清β-hCG、雌三醇和甲胎蛋白,用三变量Gaussian分析法计算与母亲年龄相关的21三体发生危险。研究对象均为单活胎孕妇,仅为血清筛查后接受羊膜腔穿刺术者,不含因高龄妊娠或以往妊娠有染色体异常儿,或常规超声波检查发现胎儿畸形的孕妇。核型分析结果仅通过检
Screening of maternal serum to help diagnose fetal trisomy 21 has been part of antenatal screening in many areas. Amniocentesis was performed on those with positive screening results, and further karyotype analysis was done. Amniocentesis in addition to detecting trisomy 21, but also detect the more common in the fetus of several other chromosome number and structural abnormalities. Serum β-hCG, estriol, and alpha-fetoprotein levels were measured in women ages 13-18 weeks of gestation, and age-related trisomy 21 risk was calculated using a three-variable Gaussian analysis. Subjects were single-live pregnant women, only for serum screening after receiving amniocentesis, exclusion of pregnant women with gestational age or previous pregnancy chromosomal abnormalities, or conventional ultrasound examination of fetal malformations. Karyotype analysis results only through the seizure