不孕症遺傳諮詢 4

臨床遺傳諮詢與優生保健鄭博仁副教授

醫學遺傳的發展 ,[object Object],[object Object],[object Object]

Archibald EGarrod (1857-1936) postulates that genetic defects cause many inherited diseases.

Inborn Errors of Metabolism Second Edition Archibald E. Garrod Henry Frowde and Hodder & Stoughton The Lancet Building London 1923 Table of Contents

遺傳諮詢歷史 ,[object Object],[object Object]

染色體 ,[object Object],[object Object],[object Object]

臨床細胞遺傳學 ,[object Object],[object Object],[object Object]

遺傳疾病之發生率 38-51 合計 7---10 具遺傳傾向的常見疾病 6---7 染色體異常 1---2 X 性聯隱性遺傳 2 常染色體隱性 2---10 常染色體顯性單基因每 1000 人口發生率遺傳疾病種類

遺傳疾病種類 ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

臨床遺傳服務的組織架構 ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

轉介至遺傳特別門診常見的理由 ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

細胞遺傳分析常見的理由 ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

分子遺傳分析常見的理由 ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

遺傳評估： ,[object Object],[object Object],[object Object],[object Object],[object Object]

臨床遺傳服務流程 ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

遺傳諮詢定義與目的 ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

遺傳診斷的衝擊對其他家族成員健康狀況及生育態度的影響對手足健康狀況及將來生育態度的影響對夫妻生育態度的影響對兒童預後的衝擊遺傳診斷

對高遺傳危險個案的生育建議 ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],對高遺傳危險個案的生育建議

遺傳諮詢的心理社會議題 ,[object Object],[object Object],[object Object],[object Object],[object Object]

遺傳檢測之定義 ,[object Object],[object Object],[object Object],[object Object],[object Object]

晚發性疾病症狀前遺傳檢測流程： ,[object Object],[object Object],[object Object],[object Object],個案要求遺傳檢測 ( 建議有數個月之等候期 )

[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

患者決定是否繼續接受檢測 ,[object Object],[object Object],[object Object]

間隔 2-6 週 ,[object Object],[object Object],[object Object],[object Object]

患者同意的時機 ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

產前診斷方式 ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

法律與倫理議題 ,[object Object],[object Object],[object Object],[object Object]

法律與倫理議題 ,[object Object],[object Object],[object Object],[object Object],[object Object]

不孕症遺傳諮詢 4

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