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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。
OBJECTIVE: To analyze the chromosomal karyotype of pregnant women with prenatal diagnosis of 889 pregnant women in the first trimester of pregnancy from 2008 to 2009 in order to find out the frequency and types of abnormal karyotypes and the relationship with various prenatal diagnosis indicators. Methods: 889 pregnant women with prenatal diagnosis indications in Linyi district were subjected to amniocentesis under ultrasound B, and 20 ml of pregnant women ’s amniotic fluid were drawn for cell culture and karyotype analysis. Results: Twenty-four cases of abnormal karyotypes were found. The detection rate of abnormal karyotype was 2.70% (24/889). There were 16 cases of trisomy 47, XX, + 21 4 cases, 47 cases of XY and 21 cases 46 cases of XY der (21; 21) (q10; q10) +18 2 cases; 47, XX, +13 1 cases; 47, XXX 1 case; 47, XXY 1 case. 1 case of 46, XX, t (14; 19) (q32.3; q13.3) cases with 46 cases, 46, XY, t (11; 15) (q25; q13) 1 case; 45, XX, der (13; 14) (q10; Inverted 2 cases: 46, XX, inv (9) (p11; q12) in 1 case; 46, XY, inv (9) (p11; q12) in 1 case. 47, XX, + mar 2 cases. Conclusion: Pregnant women with prenatal diagnosis indications are necessary to do amniotic fluid cell karyotype analysis for prenatal diagnosis.