母血清筛查21三体、18三体阳性病例的产前诊断  

Prenatal diagnosis of trisomy 18 and trisomy 21 in a population of patients as screen positive

作　　者：苗正友[1] 金玉霞[1] 柴晓俊 

机构地区：[1]浙江省嘉兴市妇幼保健院产前诊断中心,嘉兴314000

出　　处：《中国优生与遗传杂志》2008年第2期46-47,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨孕中期母血清筛查21-三体,18-三体阳性病例的染色体异常情况。方法AFP和Free-hcGβ用美国PE公司的时间分辨免疫荧光分析系统测定,风险值计算21-三体以1/270,18-三体以1/350为切割值。阳性病例进行羊膜腔穿刺羊水细胞培养。结果在54580例产前筛中有2615例为21-三体或18-三体阳性病例,占总筛查人数的4.79%。其中对1161例阳性病例进行了染色体分析(占总阳性数的44.4%)。结果发现29例异常核型,其中21-三体14例,18-三体5例,性染色体异常3例,其他异常核型7例,异常发生率2.49%。结论母血清产前筛查结合羊水诊断能够有效的避免胎儿染色体异常的发生。Objective： In order to study the chromosome abnormalities in women receiving prenatal chromosome analysis after a Down syndrome or Edward＇s syndrome screen -positive result by maternal serum during the second trimester. Methods： The levels of maternal serum alpha -fetoprotein （AFP）, Free beta human chorionis gonadotropin （Free -hcG β） in 54580 patients were measured by PE TRFIA. By use of a 1：270 midtrimester Down＇s syndrome risk, a 1：350 midtrimester edwards syndrome risk cut off value, Amniotic fluid were cultured in wimen with positive results in serum screening. Results：2615 patients were screen positive for trisomy 18 or trisomy 21, corrected screen - positive rate 4. 79% （2615/54580）. Karyotypes were reviewed for 1161 （44.4%, 1161/ 2615） of these patients who received prenatal chromosome analysis, In addition to 14 cases of Down＇s syndrome, 5 cases Edwards syndrome and 3 cases sex chromosome, 7 other fetal chromosome abnormality were found among the 1161 pregnant women （2. 49%,29/1161 ）. Conclusion： Peramniocentesis counseling for patients with positive screening results should reflect the relatively high probability that an abnormality other than chromosome abnormalities maybe identified. So prenatal screening for maternal serum markers is effective in detecting foetus chromosome abnormalities.

关 键 词：产前筛查 唐氏综合征 三体型 

分 类 号：R714.7[医药卫生—妇产科学]