羊水细胞培养用于染色体病产前诊断分析

目的探讨羊水细胞培养对孕中期孕妇进行产前诊断的可行性及必要性，防止染色体病患儿的出生。方法对293例有产前诊断指征的孕妇进行羊膜腔穿刺，采取羊水细胞培养，制备中期染色体，分析胎儿核型，进行产前诊断。结果发现染色体异常14例，异常率4．78％，其中数目异常9例，结构异常5例，不同产前诊断指征分组中的异常率不同，以夫妇一方为染色体异常组异常率最高。结论妊娠中期对有产前诊断指征的孕妇进行羊水细胞培养染色体核型分析是产前诊断的重要手段，而血清学筛查，染色体检查和超声检查三者相互结合对于预防出生缺陷意义重大。

Significance of amniotic fluid cells culture in the prenatal diagnosis for chromosomal diseases

Objective To investigate the feasibility and necessity of amniotic fluid cells culture in the prenatal diagnosis for chromosomal diseases in order to prevent the birth of fetus with chromosomal diseases. Methods The 293 specimens of amniotic cell obtained by amnioeentesis from 293 pregnant women with prenatal diagnosis indications were cuhured and analyzed. Results Among the 293 specimens of amniotic cell, 14 cases of chromosome abnormality were found, with the chromosome abnormality rate being 4.78% , including 9 cases of chromosome number abnormality and 5 cases of chromosomal structure abnormality. The chromosome abnormality rates were different in different groups with different prenatal diagnosis indications, in which the chromosome abnormality rates were the highest in the group with one party of the couple with chromosome abnormality. Conclusion The amniotic cell culture and chromosome karyotype analysis are the effective means in prenatal diagnosis for chromosomal diseases in the pregnant women with prenatal diagnosis indications at mid trimester of pregnancy, moreover, the combined detection of serological screening, chromosome examination and ultrasonic inspection plays an important role in the prevention of child birth defects.