181例遗传性疾病鉴定结果分析

发布时间：2018-04-10 05:38

  本文选题：病残儿医学鉴定　切入点：遗传性疾病　出处：《海南医学》2016年04期

【摘要】：目的分析重庆市垫江县病残儿医学鉴定中的遗传性疾病种类、发病原因,以降低遗传性疾病的再发风险。方法申请病残儿医学鉴定需填写重庆市统一的病残儿医学鉴定申请表,鉴定标准按照国家计生委颁布的病残儿医学鉴定诊断标准及其父母再生育指导原则进行。对重庆市垫江县2003-2013年符合病残儿医学鉴定诊断标准的遗传性疾病按多基因遗传病、单基因遗传病、染色体病进行分类,并分析各种遗传病的比例和发病原因,对病残儿父母进行遗传咨询和再生育指导。结果 2003-2013年申请病残儿医学鉴定者495例,符合病残儿医学鉴定标准者365例,占73.7%,365例中有遗传性疾病181例,非遗传性疾病184例。遗传性疾病共有29种,其中属于多基因遗传病者占71.82%,常染色体显性遗传病者占6.63%,常染色体隐性遗传病者占11.60%,X连锁显性遗传病者占2.21%,X连锁隐性遗传病者占3.31%,染色体病者占4.42%。结论病残儿医学鉴定涉及遗传性疾病病种多,而且比例较高,临床上应做好再生育监测,重视遗传与优生咨询工作,加强孕前检查、产前筛查和产前诊断,提高出生人口素质。
[Abstract]:Objective to analyze the types and causes of hereditary diseases in medical identification of disabled children in Xuanjiang County, Chongqing, so as to reduce the risk of recurrence of genetic diseases.Methods to apply for medical identification of disabled and disabled children, we should fill out a unified application form for medical identification of disabled children in Chongqing. The identification standard was carried out in accordance with the diagnostic criteria for medical identification of disabled children and their parents' reproductive guidelines issued by the State Family Planning Commission.The genetic diseases that met the criteria of medical identification and diagnosis of disabled children in Xuanjiang County of Chongqing from 2003 to 2013 were classified according to polygenic hereditary diseases, single genetic diseases and chromosome diseases, and the proportion and causes of various genetic diseases were analyzed.Parents of sick and disabled children should be given genetic counseling and reproductive guidance.Results from 2003 to 2013, 495 cases applied for medical identification of disabled children, 365 cases met the criteria of medical identification of sick and disabled children, accounting for 181 cases of hereditary diseases and 184 cases of non-hereditary diseases.There are 29 kinds of hereditary diseases, of which 71.82 are polygenic, 6.63 are autosomal dominant, 11.60,6.60X, and 2.21X, 3.31, 4.42, and 4.42, respectively, and 2.21% are polygenetic diseases, 6.63% are autosomal dominant diseases and 11.60% are autosomal recessive diseases, 2.21% are X linked recessive hereditary diseases and 4.42% are chromosomal diseases.Conclusion the medical identification of disabled children involves many kinds of hereditary diseases, and the proportion is high. In clinic, we should do well the monitoring of reproduction, attach importance to the consultation of heredity and eugenics, strengthen the pre-pregnancy examination, prenatal screening and prenatal diagnosis, and improve the quality of the birth population.
【作者单位】： 重庆市人口和计划生育科学技术研究院国家卫计委出生缺陷与生殖健康重点实验室;重庆市垫江县生殖健康中心;
【分类号】：D919.4
，

本文编号：1729920