本文選題：病殘兒醫(yī)學(xué)鑒定　切入點：遺傳性疾病　出處：《海南醫(yī)學(xué)》2016年04期

【摘要】：目的分析重慶市墊江縣病殘兒醫(yī)學(xué)鑒定中的遺傳性疾病種類、發(fā)病原因,以降低遺傳性疾病的再發(fā)風(fēng)險。方法申請病殘兒醫(yī)學(xué)鑒定需填寫重慶市統(tǒng)一的病殘兒醫(yī)學(xué)鑒定申請表,鑒定標(biāo)準(zhǔn)按照國家計生委頒布的病殘兒醫(yī)學(xué)鑒定診斷標(biāo)準(zhǔn)及其父母再生育指導(dǎo)原則進行。對重慶市墊江縣2003-2013年符合病殘兒醫(yī)學(xué)鑒定診斷標(biāo)準(zhǔn)的遺傳性疾病按多基因遺傳病、單基因遺傳病、染色體病進行分類,并分析各種遺傳病的比例和發(fā)病原因,對病殘兒父母進行遺傳咨詢和再生育指導(dǎo)。結(jié)果 2003-2013年申請病殘兒醫(yī)學(xué)鑒定者495例,符合病殘兒醫(yī)學(xué)鑒定標(biāo)準(zhǔn)者365例,占73.7%,365例中有遺傳性疾病181例,非遺傳性疾病184例。遺傳性疾病共有29種,其中屬于多基因遺傳病者占71.82%,常染色體顯性遺傳病者占6.63%,常染色體隱性遺傳病者占11.60%,X連鎖顯性遺傳病者占2.21%,X連鎖隱性遺傳病者占3.31%,染色體病者占4.42%。結(jié)論病殘兒醫(yī)學(xué)鑒定涉及遺傳性疾病病種多,而且比例較高,臨床上應(yīng)做好再生育監(jiān)測,重視遺傳與優(yōu)生咨詢工作,加強孕前檢查、產(chǎn)前篩查和產(chǎn)前診斷,提高出生人口素質(zhì)。
[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.
【作者單位】： 重慶市人口和計劃生育科學(xué)技術(shù)研究院國家衛(wèi)計委出生缺陷與生殖健康重點實驗室;重慶市墊江縣生殖健康中心;
【分類號】：D919.4
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本文編號：1729920