7212对新婚夫妇外周血淋巴细胞染色体分析

The significance of the new couples chromosome screening on preventing birth defects

目的探讨孕前优生保健服务中新婚待育夫妇染色体筛查在出生缺陷干预应用中的意义,为预防和减少染色体病患儿的出生提供依据。方法组织新婚待育夫妇开展孕前优生保健服务,项目中包含染色体筛查,采用外周血淋巴细胞培养,常规制备染色体,应用G显带技术进行核型分析。结果 14 424例染色体检查,发现99例异常,发生率为0.69%。还发现各种类型的染色体多态640例,发生率为4.44%。结论新婚夫妇染色体普查能及时发现染色体异常患者,对预防出生缺陷有着重要意义。

Objective：To investigate the significance of the new couples chromosome screening on preventing birth defects and to provide data for preventing and decreasing birth rate of the abnormal chromosome children. Methods：Chromosome specimens were made using routine culture of peripheral blood lymphocytes.Karyotyping was conducted mainly by G banding. Results：99cases abnormal chromosomes were observed in 14 424 patients（0. 69%）and 640 cases of polymorphic chromosome were observed（4.44%）. Conclusion：Chromosome screening among the new couples is of great significance to find the abnormal chromosome patients timely for preventing birth defects