临沂地区285例孕中期羊水细胞染色体核型分析

Chromosome Nuclear Type Analysis of Amniotic fluid Cell from 285 Women at the intermediate stage of Pregnancy in Linyi area

目的分析2008年临沂地区285例妊娠中期进行产前诊断的孕妇羊水细胞染色体核型,了解此期异常核型出现的频率、类型及与各种产前诊断指标的关系。方法选择临沂地区285例有产前诊断指征的孕妇,在B超定位下进行羊膜腔穿刺术,抽取羊水细胞进行培养及染色体核型分析。结果发现异常核型10例,异常核型检出率为3.54%(10/285)。其中21-三体2例,46,XY,der(21;21)(q10;q10),+21 1例,18-三体2例,47,XXX 1例,平衡异位、倒位3例,47,XX,+mar1例。结论有产前诊断指征的孕妇有必要以羊水细胞染色体核型分析进行产前诊断。

Objective To analyze the chromosome nuclear types of amniotic fluid cell from 285 women at intermediate stage of pregncy,and analyze the character and the relations to others test. Methods 285 Pregnant women with the necessity of prenatal diagnosis were chosen in Linyi area in 2008. The amniotic fluid were obtained under the ultrasound localization,The chromosome nuclear type was analyzed. Results 10 persons were found with abnormal nuclear types, the abnormal rate was 3.54 % （10/285）. Among them ,2 person were trisomy 21 ,and trisomy 18 respectively,1 person was 46,XY,der（21,21）（q10;q10）q-21,47 ,XXX,and 46 ,XYY respectively, balanced translocation,inversion had 3 persons. Conclusion It is necesory to analyze the chromosome nuclear types in amniotic fluid for pregnant women with prenatal diagnosis indications.