889例孕中期羊水细胞染色体核型分析

目的:分析2008~2009年临沂地区889例孕妇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:临沂地区889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,抽取孕妇羊水20 ml进行细胞培养及染色体核型分析。结果:发现异常核型24例,异常核型检出率为2.70%(24/889)。其中染色体三体16例:47,XX,+21 4例;47,XY,+21 6例;46,XY,der(21;21)(q10;q10),+21 1例;47,XX,+18 2例;47,XX,+13 1例;47,XXX 1例;47,XXY 1例。平衡异位4例:46,XX,t(5;13)(q32.3;q13.3)1例;46,XX,t(14;19)(q32.3;q13.3)1例;46,XY,t(11;15)(q25;q13)1例;45,XX,der(13;14)(q10;q10)1例。倒位2例:46,XX,inv(9)(p11;q12)1例;46,XY,inv(9)(p11;q12)1例。47,XX,+mar 2例。结论:有产前诊断指征的孕妇有必要做羊水细胞染色体核型分析进行产前诊断。

Karyotype analysis of chromosome in amniotic fluid cells of 889 women at the second trimester of pregnancy

Objective:To analyze the chromosomal karyotypes in amniotic fluid cells of 889 pregnant women at the second trimester of pregnancy receiving prenatal diagnosis in Linyi region from 2008 to 2009,understand the frequencies and types of abnormal karyotypes during the period and the relationship with various indexes of prenatal diagnosis.Methods:889 pregnant women with the indications of prenatal diagnosis in Linyi region received type B ultrasound guidance amniocentesis,20 ml amniotic fluid was abstracted for ...