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目的探讨在基层地区开展孕中期唐氏筛查的临床意义。方法回顾性分析我院近3年来送检的4976例孕中期唐氏筛查结果,同时将阳性筛查结果与染色体核型分析结果进行对比分析。结果 4976例孕妇共筛查出高危妊娠244例,筛查高风险率为4.90%(244/4976),其中21-三体、18-三体高风险率分别为4.36%(217/4976)、0.54%(27/4976);经染色体核型分析,共确诊染色体异常患者20例,其中21-三体患儿4例,18-三体患儿2例,其他染色体异常14例。3年间唐氏筛查高风险率及异常染色体核型确诊率差别均无统计学意义。结论孕中期唐氏筛查可有效检出常见染色体异常患儿,降低新生儿出生缺陷的患病风险,在基层地区开展这一检测项目具有重要意义。
Objective To investigate the clinical significance of Down’s screening during the second trimester of pregnancy in primary area. Methods A retrospective analysis of our hospital in the past three years, 4976 cases submitted to the second trimester Down’s screening results, positive screening results and chromosome karyotype analysis results were compared. Results A total of 244 pregnant women were enrolled in this study. A total of 244 high risk pregnancies were screened. The high risk of screening was 4.90% (244/4976). The high risk rates of 21 trisomy and 18 trisomy were 4.36% (217/4976) and 0.54 % (27/4976); chromosome karyotype analysis, a total of 20 cases of chromosomal abnormalities were diagnosed, including 21 cases of trisomy 21, 2 cases of 18-trisomy, 14 cases of other chromosomal abnormalities. There was no significant difference in the high-risk rate of Down’s screening and the diagnosis rate of abnormal chromosome karyotype in 3 years. Conclusion In the second trimester of Down’s screening can effectively detect common chromosomal abnormalities in children and reduce the risk of birth defects in newborns, carrying out this test in the grassroots areas is of great significance.