论文部分内容阅读
目的分析30年DS患儿及父母相关资料,为荧光PCR毛细管电泳法快速诊断DS的研究和应用提供科学依据。方法按常规外周血淋巴细胞培养方法制备染色体标本,经G显带分析,计数30或100个中期分裂相,分析3～5个或5～10个核型,按ISCN标准确定核型结果,采用χ2检验统计分析。结果 30年间,DS患儿构成比显著增长,DS患儿构成比男童高于女童,标准型患儿占88.60%,易位型占6.18%,嵌合型占5.11%,20年DS患儿母亲孕龄增加3.5岁。结论 DS是危害儿童健康最主要的遗传病,应不断提高和改进DS的产前筛查及快速诊断技术,加强孕前和孕期DS相关知识宣贯,降低出生缺陷,提高人口素质。
Objective To analyze the data of 30-year-old children with DS and their parents and provide a scientific basis for the rapid diagnosis and application of DS by fluorescence-based capillary electrophoresis. Methods Chromosome samples were prepared according to the routine peripheral blood lymphocyte culture method. After G banding analysis, 30 or 100 mitotic phases were counted, and 3 to 5 or 5 to 10 karyotypes were analyzed. The karyotype results were determined according to the ISCN standard. χ2 test statistical analysis. Results The proportion of children with DS was significantly increased over the 30 years. The percentage of children with DS was higher than that of boys. The percentage of children with DS was 88.60%, the rate of translocation was 6.18%, the percentage of chimerism was 5.11% Mother’s gestational age increased by 3.5 years. Conclusions DS is the most important genetic disease that endangers children’s health. DS should be continuously improved and improved to screen prenatal screening and rapid diagnostic techniques. DS should be strengthened to prescribing related knowledge of DS before and during pregnancy, to reduce birth defects and to improve population quality.