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目的总结探讨染色体异常与孕妇流产及唐氏综合征的关系。方法利用染色体常规R显带方法分析2011年3月至2014年1月于某院就诊(门诊及住院)的流产孕妇夫妻双方及疑似先天愚型患儿染色体核型。结果 (1)习惯性流产及胎儿胎心停跳的186对夫妻中,染色体异常检出率为2.42%(2)唐氏综合征患儿(21三体)检出率为75.00%,纯合型19例,杂合型1例;18三体检出1例。结论染色体核型分析可有效检出患者异常的染色体核型,对于边疆地区病人明确病因,优生优育及产前筛查、先天愚型患儿的诊断尤为重要。
Objective To summarize the relationship between chromosomal abnormalities and pregnancy induced abortion and Down Syndrome. Methods Chromosome routine R banding method was used to analyze the karyotypes of both spouses and suspected children with Down’s syndrome in abortion from March 2011 to January 2014 in a hospital (outpatient and inpatient). Results (1) In 186 couples with habitual abortion and fetal heartbeat, the detection rate of chromosomal abnormalities was 2.42% (2) The detection rate of trisomy 21 in children with Down Syndrome was 75.00%, homozygous 19 cases, 1 case of heterozygous; 18 cases of trisomy 18 cases. Conclusion Chromosome karyotype analysis can detect abnormal chromosome karyotypes in patients. It is particularly important for the diagnosis of patients with clear etiology, prenatal and postnatal screening and prenatal screening in frontier areas.