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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 explore the relationship between the high risk of serological screening of elderly and Down Syndrome pregnant women and the internuclear inversion (inv (9)) on chromosome 9 of fetus. Methods The prenatal diagnosis of inv (9) prenatal diagnosis of amniocentesis or umbilical cord blood biopsy in our hospital from October 2004 to August 2009 was retrospectively analyzed. Results The detection rate of fetal inv (9) in Down’s screening high-risk pregnant women was 0.91%, which was higher than that of inv (9) in common people. The detection rate of chromosomal abnormalities in fetus inv (9) was 0.71% There was no significant difference in the detection rate of chromosomal abnormalities among inv (9) in the general population, but there was no significant difference in the detection rate of fetal inv (9) chromosomal abnormalities between the two groups of pregnant women and the inv (9) chromosomal abnormalities in the general population. Conclusion Down’s syndrome screening at high risk, pregnant women are not the high risk of fetal chromosome inv (9) risk factors.