臺灣博碩士論文加值系統

染色體異常會造成許多的疾病，最常見的就是唐氏症，過去有許多的文獻報告指出唐氏症的發生和母親年齡增加有關，所以臨床上會建議年齡 ≧ 34歲的高齡孕婦最好都要接受羊膜穿刺檢查，然而研究指出，若只以高齡做為實行羊膜穿刺檢查的分界點，只能找出約20％的唐氏兒，而有大部分80％的唐氏兒是由年輕孕婦所生，所以針對此篩檢漏洞，母血唐氏症篩檢和胎兒頸部透明帶檢查等陸續因應而生，但是這些檢查只能提供一危險機率的參考值，對於高危險群者還是必須透過羊膜穿刺檢查才能做最後的確診。
原則上羊膜穿刺檢查可以99％確認胎兒染色體是否有異常，但是畢竟羊膜穿刺屬於侵入性的檢查(雖然它所造成的合併症和流產率 ＜ 1％)，因此對於高齡和非高齡孕婦是否需要接受羊膜穿刺檢查都必需審慎的評估。
為了探討何種適應症(即檢查的理由)是最大的族群，本研究自醫院統計分析由2005~2012年所有羊膜穿刺檢查的個案，總計2284個件數，其中適應症最大的族群是高齡孕婦佔67.69％，自費的個案佔17.73％，母血唐氏症篩檢佔10.86％，超音波異常佔1.05％，神經管缺陷或高母血胎兒甲蛋白 (MS-AFP) 佔1.01％，Trisomy 18風險佔0.87％。而染色體異常型態方面以「數目型染色體異常」佔最多70.83％，包含體染色體異常、性染色體異常、及鑲嵌型異常。「結構型染色體異常」佔29.17％，包含染色體的缺失、染色體的轉位、染色體的倒轉、染色體的重複等平衡性或非平衡性異常。
研究結果顯示，高齡孕婦仍是唐氏症和其它型染色體異常發生率最高的族群，但是高齡孕婦卻不是異常個案檢出率最高的 (1.94％)，而是超音波篩檢異常的檢出率最高 (16.67％)。所以對於高齡孕婦建議一定要做羊膜穿刺檢查；而對於年輕的孕婦或不願意直接抽羊水的高齡孕婦，則建議當有一項適應症為異常時，尤其當超音波檢查有異常時，最好都能進一步做羊膜穿刺檢查。
另一方面，透過羊膜穿刺檢查和血液染色體檢查異常個案的探討，可以了解個案染色體異常的型態，是屬於平衡性或非平衡性異常，是否會遺傳給下一代，以便能即早做好相關的遺傳諮詢，避免疾病的再發生。而和以往研究結果較不同的，本統計結果發現，自費的個案躍居適應症的第二位佔17.73％，顯示現代的父母對於羊膜穿刺檢查較不排斥，在擔心胎兒健康的情形下，願意接受篩檢的人增多。希望藉由本研究資料的統計分析，可以予以高齡或非高齡孕婦是否要接受羊膜穿刺檢查一個參考的方向，以期達到早期診斷與優生保健的目的。

Chromosomal abnormalities may cause lots of diseases; the most common is Down’s syndrome. In recent years, many reports indicated that the incidence of Down’s syndrome is increased by maternal age. As a result, advanced maternal age women ( ≧ 34 y/o) are clinically recommended to undergo amniocentesis. However, studies indicated that, if we use advanced maternal age as a selection criteria for the amniocentesis, only to find about 20% of Down's children, while a majority of 80% of Down's child is born to young pregnant women. Other examinations, such as maternal serum Down screening and nuchal translucency developed for the vulnerability of amniocentesis. But these examinations can only provided the reference of the risk. For them at risk, the amniocentesis is needed to confirm the diagnosis.
In principle, 99% of chromosomal abnormalities can be detected by amniocentesis. Although amniocentesis results in low complication rate and low abortion rate (both ＜ 1％), it is still an invasive testing. Therefore, we require a careful assessment, whether they need amniocentesis or not, for all age of pregnant women.
In order to investigate what indications is the largest group, we analyze all patients (total population 2284) having amniocentesis in hospital since 2005 to 2012.We found that the largest group is advanced maternal aged accounting for 67.69 %, cases at their own expense are 17.73％, maternal serum Down screening are 10.86%, abnormal sonographic finding are 1.05%, neural tube defect or elevated MS-AFP are 1.01% and having risk of trisomy 18 are 0.87%. The major type of chromosomal abnormalities is 「numerical chromosome abnormality」 accounting for 70.83%, which include autosomal chromosome aneuploidies, sex chromosome aneuploidies and mosaicism. And structural abnormalities are 29.17% including deletions, translocation, inversion and duplication.
The results showed that advanced maternal age still has the highest incidence of Down's syndrome and other chromosomal abnormalities. Advanced maternal age have highest sensitivity of ultrasound (16.67%), but not highest detection rate (1.94%). Amniocentesis is suggested to all elder pregnant women. For younger pregnant women who don’t want to have amniocentesis, it is recommended that they had better taking further amniocentesis if they had abnormal sonogram findings.
On the other hand, by amniocentesis and blood karyotyping analysis, we can understand the patterns of chromosomal abnormalities, balanced or unbalanced abnormalities, and whether it will be passed on to the next generation. We can do genetic counseling to avoid occurrence of the disease. Different from other researches, we found that cases at their own expense jump to 17.73% in second place. This shows that parents are not against amniocentesis, when they are worry about babies ’healthy. I hoped my study can give all pregnant women a reference if having amniocentesis or not, and achieve the purpose of early diagnosis and genetic health.

目錄
誌謝 I
中文摘要 II
ABSTRACT IV
表目錄 VIII
圖目錄 IX
第一章　緒論 1
第一節、研究背景 1
一、前言 1
二、羊膜穿刺檢查 2
三、母血唐氏症篩檢 4
四、人類染色體與染色體核型分析 8
五、染色體異常型式 9
六、染色體疾病的介紹 11
七、遺傳諮詢 16
第二節、研究動機與目的 19
一、研究動機 19
二、研究目的 20
第二章　研究方法 21
第一節、研究架構 21
第二節、研究流程 22
第三節、研究對象 23
第四節、研究材料 23
第五節、實驗方法 28
第三章　研究結果與討論 36
第一節、羊膜穿刺檢查研究結果分析與討論 36
第二節、羊膜穿刺檢查異常個案處理流程 48
第三節、血液染色體檢查研究結果分析與討論 50
第四節、染色體異常個案之遺傳諮詢與優生保健 56
第四章 結論與建議 59
第五章 未來展望 62
參考文獻 64
附錄 71

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[60]網路資源: 內政部統計處網站 http://www.moi.gov.tw/stat/
[61]網路資源: 台大醫院基因醫學部網站http://www.ntuh.gov.tw/gene/default.aspx
[62]網路資源: 教育部數位教學入口網站 (遺傳諮詢)https://isp.moe.edu.tw/