1406例孕妇孕中期羊水细胞培养及染色体核型分析

目的通过对具有产前诊断指征的妊娠中期孕妇进行羊水细胞培养及染色体核型分析,探讨胎儿染色体异常特点,为产前诊断提供客观的实验依据。方法对2010年1月—2011年12月于我院就诊的1406例具有产前诊断指征的孕妇,在B超引导下行羊膜腔穿刺术,抽取羊水20 ml,进行羊水细胞培养,染色体制备及胎儿染色体核型分析。结果在1406例孕妇的羊水染色体检查结果中,共检出异常核型94例,包括染色体数目异常33例,结构异常61例,胎儿染色体异常率为6.69%,其中21-三体15例,18-三体7例,特纳综合征5例、47,XXX,2例,平衡易位6例、倒位27例、嵌合体6例,其他染色体结构异常26例。结论进行羊水细胞培养染色体核型分析在产前诊断中具有重要的作用,能有效地降低染色体病患儿的出生率。

1406 example pregnancy intermediate stage amniotic cell culture and chromosomal karyotypes analysis

Objective：To analyze the chromosomal karyotypes of amniotic fluid cells in mid-gestation women with amniotic cell culture in accordance with the indications for prenatal diagnosis,explore the characteristics of fetal chromosomal,In order to constitute a basis for prenatal diagnosis. Methods：1406 cases pregnant women with the indications for prenatal diagnosis from Jan. 2010 to Dec. 2011 undergo amniocentesis by ultrasound monitoring,extract amniotic fluid 20 ml to culture,and performed the G-banding staining for karyotype analysis.Results：In 1406 example pregnant woman s amniotic fluid chromosome inspection result,the unusual nuclear 94 examples,including 33 cases with chromosomal number abnormality and 61 cases with chromosomal structural abnormality;the embryo chromosome rate of abnormality is 6.69%,which includes 15 cases of 21-trisomy,7 cases of 18-trisomy,5 cases of Turner Syndrome,2 cases of 47,XXX,6 cases of balanced translocation,27 cases of inversion,chromosome mosaicism 6 cases and other structural chromosomal abnormality in 26 cases. Conclusion：The amniotic cell culture and chromosome analysis plays an important part in prenatal diagnosis,may obviously reduce the chromosome disease patients birth rate.