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胎儿9号染色体臂间倒位与产前诊断指征的关系

The relationship between pericentric inversion of chromosome 9 of fetus and the indications of prenatal diagnosis
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摘要 目的探讨孕妇高龄与唐氏综合征血清学筛查高危与胎儿9号染色体臂间倒位(inv(9))的关系。方法回顾性分析2004年10月至2009年8月间在我院因各种原因行羊膜腔穿刺或脐带血穿刺产前诊断的inv(9)胎儿的产前诊断指征。结果唐氏筛查高危的孕妇胎儿inv(9)检出率为0.91%,高于普通人群inv(9)染色体异常检出率,高龄孕妇胎儿inv(9)染色体异常检出率0.71%,低于普通人群inv(9)染色体异常检出率,但2组孕妇的胎儿inv(9)染色体异常检出率与普通人群inv(9)染色体异常检出率差异无显著性。结论唐氏综合征筛查高危,孕妇高龄均不是胎儿染色体inv(9)的高危因素。 Objective: To study the relationship between the women with advanced maternal age and the pericentric inversion of chromosome 9(inv(9)),and the relationship between the pregnant women at high risk for Down syndrome through serologic screening and the pericentric inversion of chromosome 9(inv(9)).Methods: To analyze the indications of the prenatal diagnosis of the(inv(9)) fetuses who have an amniocentesis or cordocentesis in our hospital due to various reasons from October 2004-August 2009.Results: The detection rate of fetal inv(9) of pregnant women who were at high risk for Down syndrome was 0.91%,which is higher than the detection rate of inv(9) chromosome abnormality of the common people.The detection rate of inv(9) chromosome abnormality of fetuses of elderly pregnant women was 0.71%,which is lower than the detection rate of inv(9) chromosome abnormality of the common people.However,there is no significant difference between the detection rate of inv(9) chromosome abnormality of fetuses of pregnant women of Group 2 and the detection rate of inv(9) chromosome abnormality of the common people.Conclusions: The high risk for Down syndrome through screening and the advanced maternal age are not the high risk factors of the fetal chromosome 9 inv(9).
出处 《中国优生与遗传杂志》 2011年第4期41-41,43,共2页 Chinese Journal of Birth Health & Heredity
关键词 产前诊断 9号染色体臂间倒位 Prenatal diagnosis Pericentric inversion of chromosome 9
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