8250例高龄孕妇的产前细胞遗传学诊断

The application of prenatal cytogenetic diagnosis study of 8250 cases of pregnant women with advanced maternal age

目的通过高龄孕妇羊水染色体的核型结果分析,探讨高龄孕妇妊娠异常染色体胎儿的风险。方法对8250例年龄≥35周岁孕妇于孕中期在超声介导下行羊水穿刺术,对羊水进行常规细胞培养和染色体G显带核型分析。结果 8250例羊水中,培养成功8246例,成功率99.9%,共检出染色体异常241例,其中染色体数目异常160例,染色体增加10例,染色体易位32例,染色体倒位9例,衍生染色体15例,嵌合体15例。结论对高龄孕妇进行羊水染色体核型分析能有效的诊断胎儿染色体病,从而有效降低异常胎儿出生率,提高我国人口素质。

Objective：Through the karyotype analysis results of the fetal chromsome abnoamalities of pregnanl women of advanced maternal age,to discuss the risk of chromosome abnormallities of fetus. Methods：Performed Ultrasound mediated amniocentesis in 8250 cases of pregnant women with age over 35. Collected amniotic fluid went through conventional cell culturing and chromosome G banding karyotype analysis. Results：Out of 8250 cases of amniotic fluid,8246 of them cultivated successfully,which yields in a success rate of 99.9%. 241 cases of chromosomal abnormalities were found,among whicht 160 were numerical chromosome abnormality,10 chromosome add,32 chromosome translocation,9 chromosome inversion 15 chromosome derivative 15 chromosome mosaicism.Conclusion：Karyotype analysis of amniotic fluid can be effective in the diagnosis of fetal chromosomal disease of older pregnant women and will lower the birth rate of infants with chromosome disease,so as to increase the birth quality.