探討不孕之基因檢測

中山醫學大學機構典藏 CSMUIR > 醫學科技學院 > 醫學檢驗暨生物技術學系暨碩士班 > 博碩士論文 > Item 310902500/21358

Please use this identifier to cite or link to this item: https://ir.csmu.edu.tw:8080/ir/handle/310902500/21358

Title:	探討不孕之基因檢測 Explore the genetic testing of infertility
Authors:	陳淑賢 IN, CHAN SOK
Contributors:	中山醫學大學: 醫學科技學院醫學檢驗暨生物技術學系;邱慧玲
Keywords:	不孕;第二代定序技術;基因檢測;染色體畸變 Infertility;NGS;Genetic testing;Chromosomal aberrations
Date:	2020-07-01
Issue Date:	2021-01-15T02:54:43Z (UTC)
Abstract:	現今世界各地數據顯示，全球約有15％的夫婦有不孕相關之問題，隨著晚婚及生育年齡的延遲，再加上生活壓力、環境污染的影響下，高齡產婦及不孕的問題將愈來愈嚴重，隨著科技的進步發展，各類基因檢測愈來愈普及，及早診斷出有遺傳風險致病基因對於治療和避免遺傳影響後代健康非常重要。診斷不孕症及進行基因檢測前，需進行全面之評估，包括個人醫療病史、家族史及荷爾蒙水平評估等，然後針對性地進行適當之基因檢測。本篇綜述的目的是總結為不孕夫婦提供的診斷性檢查和主要之基因檢測。第二代定序技術(Next-Generation Sequencing, NGS)是一種強大的工具，可用於識別與人類疾病相關的變異基因，此技術用於不孕風險評估可以簡化診斷和治療過程，但也有其局限性，隱藏在結果之中的生物醫學意義，未必可以被順利解讀，且如果沒有統一的標準和規範來保證檢測結果的可靠性，對病人往後的治療及心理都會造成很大的影響。完善其檢測規範、結果判讀標準、建立世界各人種的基因資料庫是解決問題的關鍵，聯合臨床醫生和NGS檢測公司對結果進行判讀，也能協助醫生更準確地制定治療方案。 Today's data around the world show that about 15% of couples worldwide have infertility-related problems. The delay in switching late marriage and growing age, coupled with the pressure of life, the impact of environmental pollution, the problem of elderly women and infertility will be more and more serious, with the development of science and technology, various types of genetic testing are spreading more and more, early diagnosis of genetic risk of disease-causing genes Genetic influence on the health of future generations is very important. Before diagnosing infertility and performing genetic testing, a comprehensive assessment is required, including personal medical history, family history, and hormonal level assessment, etc., and then targeted appropriate genetic testing. The purpose of this overview is to summarize the diagnostic tests and major genetic tests provided for infertile couples. Next-Generation Sequencing (NGS) is a powerful tool that can be used to identify variant genes related to human disease. This technology is used in infertility risk assessment to simplify the diagnosis and treatment process, but It also has its limitations. The biomedical significance hidden in the results may not be interpreted smoothly, and if there is no unified standard and specification to ensure the reliability of the test results, it will have a great impact on the patient's future treatment and psychology. Improving its test specifications, result interpretation standards, and establishing a genetic database of all races in the world are the key to solving the problem. Cooperating with clinicians and NGS testing companies to interpret the results can also help doctors formulate treatment plans more accurately.
URI:	http://ir.csmu.edu.tw:8080/ir/handle/310902500/21358
Appears in Collections:	[醫學檢驗暨生物技術學系暨碩士班] 博碩士論文

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