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目的探讨唐氏综合征患儿染色体核型分析及其产前诊断指征的关系。方法对确诊的唐氏综合征胎儿的临床资料进行回顾性分析。结果检出21三体16例,异常检出率1.31%。其中单纯性21三体14例,易位型21三体1例,嵌合型21三体1例。结论应重视超声软指标和唐氏血清学筛查工作,及旱进行产前诊断,发现唐氏患儿,做好出生缺陷防治工作。
Objective To investigate the relationship between chromosomal karyotypes and prenatal diagnosis in children with Down Syndrome. Methods The clinical data of the fetus diagnosed Down Syndrome were retrospectively analyzed. Results Twenty - one cases of trisomy 21 were detected, with an abnormality of 1.31%. Among them, there were 14 cases of simple trisomy 21, 1 case of trisomy 21 and 1 case of trisomy 21 trisomy. Conclusions Should pay attention to ultrasound soft index and Down’s serological screening work, and dry for prenatal diagnosis, found in children with Down, do a good job of birth defects prevention and treatment work.