长沙地区3079例产前诊断病例的染色体结果分析  

Analysis of chromosome for prenatal diagnosis in 3079 case Changsha area

作　　者：李寒梅[1] 李红玉[1] 卢焰梅[1] 贺骏[1] 

机构地区：[1]长沙市妇幼保健院,长沙市产前诊断中心,410007

出　　处：《中国优生与遗传杂志》2014年第6期31-33,共3页Chinese Journal of Birth Health & Heredity

摘　　要：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。Ojective： Through analysis of 3079 cases for a variety of indications for prenatal diagnosis of fetal chromosome research results in our hospital, we research the clinical significance of reducing birth defects by serology prenatal screening, B ultrasound prenatal screening combined with prenatal diagnosis technologies. Methods： The fetal chromosome research results of 3079 pregnant women received prenatal diagnosis in our hospital from May 2004 to December 2012 were analyzed retrospectively. Results： Among the 3079 cases, we found 128 cases of abnormal karyotype （12813079） , accounting for 4.16% （not including 23 cases of the inversion of normal variation and polymorphism variation of increased heterochromatin） , of which autosome numerical abnormality account for 60 cases （46.88%） ; of which abnormal structure account for abnormal structure （33.59%） of which abnormal sex chromosome account for 25 cases （19.53%） . Conclusion： Srology prenatal screening, B ultrasound prenatal screening combined with prenatal diagnosis technologies can effectively reduce the birth defects.

关 键 词：产前筛查 产前诊断 染色体病 出生缺陷 

分 类 号：R714.55[医药卫生—妇产科学]