长沙地区3079例产前诊断病例的染色体结果分析 |
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引用本文: | 李寒梅,李红玉,卢焰梅,贺骏.长沙地区3079例产前诊断病例的染色体结果分析[J].中国优生与遗传杂志,2014(6):31-33. |
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作者姓名: | 李寒梅 李红玉 卢焰梅 贺骏 |
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作者单位: | 长沙市妇幼保健院、长沙市产前诊断中心,410007 |
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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。
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关 键 词: | 产前筛查 产前诊断 染色体病 出生缺陷 |
Analysis of chromosome for prenatal diagnosis in 3079 case Changsha area |
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Institution: | LI Han-mei, et al. (Changsha Women & Children Health Care Hospital, Hunan Changsha 410007 ) |
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Abstract: | 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. |
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Keywords: | Prenatal screening Prenatal diagnosis Chromosome disease Birth defects |
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