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目的通过分析我院3079例因各种指征行产前诊断孕妇胎儿染色体的结果,探索研究血清学产前筛查、B超产前筛查并结合产前诊断技术对降低出生缺陷的临床意义。方法对我院2004年5月至2012年12月接受产前诊断的3079位孕妇的胎儿染色体结果进行回顾性分析。结果 3079例孕妇中,发现异常染色体核型128例(128/3079),占4.16%(不包括正常变异的倒位和异染色质增加等多态性变异23例)。其中常染色体数目异常60例(46.88%);结构异常43例(33.59%)。性染色体异常25例(19.53%)。结论血清学产前筛查、B超产前筛查结合产前诊断技术可以有效的降低出生缺陷。
Objective To analyze the results of prenatal diagnosis of fetal chromosomes in 3079 cases of various indications in our hospital and to explore the clinical significance of serological prenatal screening, B-prenatal screening combined with prenatal diagnosis to reduce birth defects . Methods A retrospective analysis was performed on the fetal chromosome results of 3079 pregnant women receiving prenatal diagnosis from May 2004 to December 2012 in our hospital. Results Among 3079 pregnant women, 128 cases (128/3079) of abnormal chromosome karyotypes were found, accounting for 4.16% (excluding 23 cases of polymorphic variation such as inversions of normal variation and increase of heterochromatin). The number of autosomal abnormalities in 60 cases (46.88%); structural abnormalities in 43 cases (33.59%). 25 cases of chromosomal abnormalities (19.53%). Conclusion Serological prenatal screening, B prenatal screening combined with prenatal diagnosis can effectively reduce birth defects.