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完整後設資料紀錄
DC 欄位 | 值 | 語言 |
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dc.contributor.advisor | 曾麗慧 | |
dc.contributor.author | Yueh-Ju Tsai | en |
dc.contributor.author | 蔡岳儒 | zh_TW |
dc.date.accessioned | 2021-06-08T02:17:34Z | - |
dc.date.copyright | 2016-02-26 | |
dc.date.issued | 2015 | |
dc.date.submitted | 2015-09-23 | |
dc.identifier.citation | 1. 中華民國《優生保健法施行細則》第十五條第一項。
2. http://fetalmedicine.org 3. New Recommendations for Down Syndrome Call for Offering Screening to All Pregnant Women. ACOG. Dec 31, 2006. https://www.acog.org/About-ACOG/News-Room/News-Releases/2006/New-Recommendations-for-Down-Syndrome 4. Simpson JL, Elias S, Isolating Fetal Cells From Maternal Blood, JAMA. 1993;270(19):2357-2361. 5. Lo YMD, Corbetta N, et al. Presence of fetal DNA in maternal plasma and serum. Lancet 1997;350:485-7. 6. Bianchi DW, Simpson JL, et al. Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I data. Prenat Diagn 2002;22:609-15. 7. Lau TK, Chan MK, et al. Clinical utility of noninvasive fetal trisomy (NIFTY) test - early experience. J Matern Fetal Neonatal Med. 2012; 25(10):1856-59. 8. Palomaki GE, Kloza EM, et al. DNA se-quencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet. Med. 2011;13:913-20. 9. Noninvasive Prenatal Testing for Fetal Aneuploidy. ACOG Committee on Genetics. Number 545, December 2012. http://www.acog.org/Resources-And-Publications/Committee-Opinions/Committee-on-Genetics/Noninvasive-Prenatal-Testing-for-Fetal-Aneuploidy 10. Ashoor G, Syngelaki A, POON LCY, et al. Fetal fraction in maternal plasma cell-free DNA at 11–13 weeks’ gestation: relation to maternal and fetal characteristics. Ultrasound Obstet Gynecol 2013;41:26-32. 11. Wright D, Syngelaki, et al. First-trimester screening for trisomies 21, 18 and 13 by ultrasound and biochemical testing. Fetal Diagn Ther. 2014;35(2):118-26. 12. Malone FD, Canick JA, Ball RH, et al. First-trimester or second-trimester screening, or both, for Down’s syndrome. N Engl J Med 2005;353:2001-11. 13. ACOG's Screening Guidelines on Chromosomal Abnormalities. ACOG. May 7, 2007. http://www.acog.org/About-ACOG/News-Room/News-Releases/2007/ACOGs-Screening-Guidelines-on-Chromosomal-Abnormalities 14. Liao J, Sathanoori M, Yatsenko SA, et al. Prenatal detection of del(10)(q11.2) mosaicism in chorionic villus specimens likely caused by a common chromosomal fragile site FRA10G is associated with a normal phenotype. Prenat Diagn. 2012 Dec;32(12):1166-9. 15. Eddleman KA, MaloneFD, SullivanL, et al. Pregnancy loss rates after midtrimester amniocentesis. Obstet Gynecol 2006;108(5):1067-72. 16. Committee opinion: Mid-Trimester Amniocentesis Fetal Loss Rate. J Obstet Gynaecol Can 2007;29(7):586-590. 17. Chiu RWK, Chan KCA, Gao Y, et al.Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy bymassively parallel genomic sequencing of DNA in maternal plasma. Proc Natl Acad Sci USA. 2008;105:20458-63. 18. Chiu RWK, Akolekar R, Leung TY, et al. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. BMJ. 2011;342:c7401. 19. Chen EZ, Chiu RW, Sun H, et al. Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing. PLoS One. 2011;6(7):e21791. 20. Canick JA, Kloza EM, Lambert-Messerlian GM, et al. DNA sequencing ofmaternal plasma to identify Down syndrome and other trisomies inmultiple gestations. Prenat Diagn. 2012;32(8):730-4. 21. Leung TY, Qu JZZ, Liao GJ, et al. Noninvasive twin zygosity assessment and aneuploidy detection by maternal plasma DNA sequencing. Prenat Diagn. 2013;33(7):675-81. 22. Gil MM, Quezada MS, Bregant B, Syngelaki A, Nicolaides KH. Cell-Free DNA Analysis for Trisomy Risk Assessment in First-Trimester Twin Pregnancies. Fetal Diagn Ther. 2014;35:204-11. 23. Morain S, Greene MF, Mello MM. A New Era in Noninvasive Prenatal Testing. N Engl J Med 2013;369:499-501. | |
dc.identifier.uri | http://tdr.lib.ntu.edu.tw/jspui/handle/123456789/19760 | - |
dc.description.abstract | 人類的懷孕總是存在產生部分異常胚胎或胎兒的機率,因而過去發展出羊膜穿刺術及絨毛膜取樣術等侵入性技術,以取得胎兒或絨毛膜細胞直接診斷是否有染色體的異常,但是侵入性檢查總是有少數機率有流產、感染、破水等風險存在,因此後來發展出第一孕期與第二孕期唐氏症篩檢,先行篩檢出可能的胎兒染色體異常的高風險個案,再行羊膜穿刺術,在台灣同時也以高齡懷孕為胎兒染色體異常的高風險群,皆施行羊膜穿刺術,然而僞陽性率偏高,許多實際上正常的個案,因為唐氏症篩檢為高風險而接受侵入性的羊膜穿刺術,因此最近又發展出非侵入性母血胎兒染色體檢測(NIPT)的篩檢技術,以期待能到更精確的篩檢結果,以減少偽陽性的結果,進而減少侵入性檢查施術的機會。
本研究取樣100例因故施行羊膜穿刺術的孕婦,其中有2名孕婦為雙胞胎,所以共有102例胎兒,然其中僅2例胎兒為染色體異常個案,僅佔1.96%。另取樣8例接受NIPT的案例,有1例NIPT顯示為高風險,經羊膜穿刺術取羊水胎兒細胞分析也證實為染色體異常個案。 產前診斷的技術日新月異,若將NIPT與第一孕期唐氏症篩檢的超音波檢查組合在一起,可以提供孕婦高敏感度、高特異性與高安全性的產前胎兒異常的篩檢方式,如此羊膜穿刺術的實施量將會減少很多,也會大量減少因實施侵入性檢查而導致流產、感染、破水等等事件的發生。 | zh_TW |
dc.description.abstract | There are existing risks to have fetal chromosome abnormality in the world. Amniocentesis is used to obtain fetal cells to analyze fetal chromosome. This invasive procedure leads to some risks, including miscarriage, rupture of amniotic membrane, infection, and other complications. Therefore, some non-invasive screening methods were developed during recent two decades, such as second trimester Down screening and first trimester Down screening. And there is a recent technique named Non-Invasive Prenatal Test (NIPT), which is developed to decrease the chances to undergo amniocentesis.
In this study, 100 cases of pregnant women with 102 fetuses underwent amniocentesis, but just 2 cases had abnormal fetal chromosome. This means that the previous indications for amniocentesis reveal low positive predictive value for fetal chromosome abnormality. On the other hand, 8 cases of pregnant women underwent NIPT. High risk was reported for one case. The case was confirmed with amniocentesis, and was proven to have fetal chromosome abnormality. Developing prenatal screening methods to reduce the chances of undergoing invasive procedure is important to prenatal diagnosis. | en |
dc.description.provenance | Made available in DSpace on 2021-06-08T02:17:34Z (GMT). No. of bitstreams: 1 ntu-104-P01448010-1.pdf: 1813679 bytes, checksum: 027f6e4d07ed91521dd9eb5b8cf83684 (MD5) Previous issue date: 2015 | en |
dc.description.tableofcontents | 口試委員審定書 i
中文摘要及關鍵詞彙 ii 英文摘要及關鍵詞彙 iii 圖目錄 v 表目錄 vi 第一章 緒論及背景 1 1.1 產前遺傳診斷的目的 1 1.2 常見人類染色體異常疾病的產前篩檢方式 3 1.3 侵入性的產前遺傳診斷技術簡介 8 1.4 細胞核染色體分析技術簡介 9 1.5 非侵入性母血母血胎兒染色體檢測簡介 11 1.6欲探討之問題 12 第二章 研究方法 13 2.1 案例取樣來源 13 2.2 案例之適應症與排除條件 14 2.3 觀察目標 16 2.4名詞解釋 18 第三章 研究結果 19 3.1 非侵入性母血胎兒染色體檢測案例與結果 19 3.2 羊膜穿刺術案例各項參數的統計結果 21 第四章 討論 25 4.1 侵入性檢查相關的討論 25 4.2 非侵入性母血胎兒染色體檢測相關討論 31 4.3 問題與討論 37 4.4 可行的產前篩檢組套 41 4.5 結論 43 參考資料 44 | |
dc.language.iso | zh-TW | |
dc.title | 探討非侵入性母血胎兒染色體檢測與羊膜穿刺術在現今產前診斷上之運用 | zh_TW |
dc.title | Disscuss The Use of NIPT and Amniocentesis for Recent Prenatal Diagnosis | en |
dc.type | Thesis | |
dc.date.schoolyear | 104-1 | |
dc.description.degree | 碩士 | |
dc.contributor.oralexamcommittee | 楊偉勛,李建南 | |
dc.subject.keyword | 產前診斷,非侵入性母血胎兒染色體檢測,羊膜穿刺術,唐氏症篩檢,染色體異常, | zh_TW |
dc.subject.keyword | prenatal diagnosis,amniocentesis,NIPT,fetal chromosome abnormality,fetal chromosome anomaly, | en |
dc.relation.page | 57 | |
dc.rights.note | 未授權 | |
dc.date.accepted | 2015-09-24 | |
dc.contributor.author-college | 醫學院 | zh_TW |
dc.contributor.author-dept | 分子醫學研究所 | zh_TW |
顯示於系所單位: | 分子醫學研究所 |
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