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研究生:林家君
論文名稱:第一孕期胎兒頸部透明帶厚度測量與第二孕期生化試驗於偵測胎兒染色體異常
論文名稱(外文):Combined first trimester nuchal translucency and second trimester biochemical screening tests for fetal chromosome aberrations
指導教授:陳鴻震
學位類別:碩士
校院名稱:國立中興大學
系所名稱:生命科學系
學門:生命科學學門
學類:生物學類
論文種類:學術論文
論文出版年:2004
畢業學年度:92
語文別:中文
論文頁數:77
中文關鍵詞:唐氏症胎兒頸部透明帶母血唐氏症篩檢
外文關鍵詞:nuchal translucencymaternal serum screening for Down syndrome
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唐氏症(Down syndrome)是新生兒最常見的染色體異常,由於多了一條第21號染色體(trisomy 21),唐氏症患者通常會有中度或重度的智能障礙,同時有多重器官異常的併發症。自從施行優生保健法,建議年滿34歲以上高齡孕婦接受羊膜穿刺術,檢驗胎兒染色體。然而80 % 的唐氏症兒是由小於34歲的年輕孕婦所生,且羊膜穿刺術屬於侵襲性檢查,並不適合普遍施行於所有孕婦。1994年起國內開始施行第二孕期母血唐氏症篩檢(maternal serum screening for Down syndrome;MSS-DS),將母血中甲型胎兒蛋白與人類絨毛膜性腺激素,利用微粒子酵素免疫分析法測得濃度之後,換算為胎兒罹患唐氏症的危險機率,以提供孕婦是否需要進一步接受產前診斷的參考。此外,近年英國發展以第一孕期胎兒頸部透明帶(nuchal translucency;NT)的量測作為唐氏症篩檢的工具,希望能夠早期篩檢,早期診斷異常胎,及早終止妊娠。過去的報導多是個別研究單一篩檢方法,本篇研究的目的在於探討合併兩項篩檢方法實施的成效,並評估何者較符合目前臨床所需。本研究以在台中台安醫院產檢的懷孕婦女當作研究樣本,自2000年1月至2003年12月4年期間,總樣本數共8655位,其中327位因無法追蹤結果被剔除。合併進行兩項篩檢方法的有2356位,單純接受MSS-DS的孕婦有4952位,另外只接受超音波胎兒NT厚度量測者有1020位。其篩檢陽性率(screening positive rate)分別為0.72%,3.05%,以及1.18%;偵測率(detection rate)為62.95%,50%,以及66.67%。期間有990位婦女接受羊膜穿刺檢查,其染色體分析結果有10位是trisomy 21,3位是trisomy 18,43位為其他染色體異常,另外有4位唐氏兒是產後才做確認診斷。自2001年7月院方實施NT厚度量測後不再有唐氏兒出生,NT厚度量測的確可以改善唐氏症篩檢,結合第一孕期NT厚度量測與第二孕期母血唐氏症篩檢,不但降低染色體異常胎兒的出生,同時提高偵測率,可造福更多的孕婦,達到優生保健的目的。
Down syndrome(DS) is the most common chromosomal abnormality in live born babies. A supernumerary chromosome 21(trisomy 21)causes the syndrome. DS cases are often minor or severe mental retardation. Since 1985, we have offered amniocentesis for pregnant women with advanced maternal age. However, only 20 percent of all cases with DS could be identified, and amniocentesis is an invasive testing and it’s not suitable to offer for all pregnant women. The maternal serum screening for Down syndrome (MSS-DS) during the second trimester was introduced into Taiwan since 1994. MSS-DS is adopted by combining alpha-fetoprotein and β-human chorionic gonadotropin and maternal age. The measurement of nuchal translucency (NT) during first trimester could be thought as a screening tool for DS in UK. We collected the pregnant women in Taichung Tai-An Hospital as the population of our research. The total population in our study was 8655.Among these women, 372 were excluded from the general population because of no available chromosome study results. The time interval from Jan.2000 to Dec.2004 was four-year interval. We use 1/270 as the cut-off value for increasing risk of DS. 2356 pregnant women join in both screening tests. Only accept first trimester NT measurement is1020. There are 4952 pregnant women who only accept second trimester MSS-DS. The screening positive rates of them are 0.72%, 3.05%, and 1.18%; the detection rates of them are 62.95%, 50%, and 66.67%. We also collected 990 pregnant women who received amniocentesis. Among them, trisomy 21 was found in 10 women, trisomy 18 was found in 3 women, and the other fetal chromosome aberrations were found in 43 women. There are 4 DS babies who were found in postnatal diagnosis. After providing the first trimester NT measurement, no DS baby was born. By combining first trimester NT measurement and second trimester biochemical screening tests, the detection rate for fetal chromosome aberrations is increasing, and the number of women who need amniocentesis is decreasing, and it is a good prenatal screening test for fetal chromosome aberrations.
封面 1
口試委員簽名表 2
碩士論文授權書 3
致謝 4
目錄 5
圖表目錄 6
縮寫表 7
中英對照表 8
中文摘要 11
英文摘要 12
壹 研究背景與文獻回顧 13
貳 研究動機與目的 27
參 研究方法與材料 28
肆 研究結果 33
伍 結果討論 45
陸 展望 48
柒 參考資料 51
捌 附錄 58
1.王作仁。唐氏症的臨床表現。1984年4月8日小兒科醫學會專題演講。
2.呂鴻基。唐氏症徵候群之先天性疾病。1984年4月8日小兒科醫學會專題演講。
3.林秀娟等:國人唐氏症患兒發生率與生長情形之研究。行政院衛生署研究報告,1991年六月。
4.林明泉。1993。第十八章 羊水檢查,491-515頁,林明泉著,臨床鏡檢學。合記圖書出版社,台北。
5.謝豐舟(民84)。孕婦的產前檢查。台灣醫界,38(12),30-32。
6.中華民國周產期醫學會母血篩檢唐氏症研究組。1995。母血篩檢唐氏症工作手冊。
7.中華民國唐氏症關愛者協會。1997。唐氏症家長手冊。
8.何敏夫。1999。第十四章 超音波檢查之概要,205-218頁,何敏夫著,臨床生理學,第二版。合記圖書出版社,台北。
9.郭義興。2003。台灣母血唐氏症篩檢對唐氏症出生趨勢之影響。
10.Adams MM, Erickson JD, Layde PM, and Oakley GP. 1981. Down’s syndrome. JAMA 246: 758.
11.Baty BJ, Blackburn BL, Carey, JC. 1994. Natural history of trisomy 18 and trisomy 13:I growth, physical assessment, medical histories, survival and recurrence risk. Am J Med Genet 49: 175-188
12.Benacerraf BR, Gelman R, Frigoletto D. 1987. Sonographic identification of second-trimester fetuses with Down’s syndrome. N Engl J Med 317:1371-1376.
13.Benn PA.2002. Advances in prenatal screening for Down syndrome: II first trimester testing, integrated testing, and future directions. Clin Chim Acta 324: 1-11.
14.Bergstrand CG, Czar B. 1956. Demonstration of a new protein fraction in serum from the human fetus. Scand J Clin Lab Invest 8: 174-186.
15.Bilardo CM. 2001. Increased nuchal translucency and normal karyotype : coping with uncertainty. Ultrasound Obstet Gynecol 17: 99 —101.
16.Bogart MH, Pandian MR, Jones OW. 1987. Abnormal maternal serum chorionic gonadotrophin levels in pregnancies with fetal chromosome abnormalities. Prenat Diagn 7: 623-630.
17.Boue JG, Boue A, Lazar P, Gueguen S. 1973. Outcome of pregnancies following a spontaneous abortion with chromosomal anomalies. Am J Obstet Gynecol 116: 806-812.
18.Boycott M, Rowlands IW. 1938. The biological nature and quantitative variation of the gonadotropic activity of pregnant women’s serum. Br Med J 1: 1097.
19.Brambati B, Cislaghi C, Tului L. 1995. First trimester Down syndrome screening using nuchal translucency: a prospective study in patients undergoing chorionic villus sampling. Ultrasound Obstet Gynecol 5: 9-14.
20.Braunstein GD, Rasor J, Adler D, Danzer H, Wade ME. 1976. Serum human chorionic gonadotropin levels throughout normal pregnancy. Am J Obstet Gynecol 126: 678-681.
21.Brock DJH, Sutcluffe RG. 1972. Alpha-fetoprotein in the antenatal diagnosis of anencephaly and spina bifida. Lancet II: 197-199.
22.Brock DJH, Bolton AE, Monaghan JM. 1973. Prenatal diagnosis of anencephaly through maternal serum alpha-fetoprotein measurement. Lancet II: 923-924.
23.Canfield RE, Morgan FJ, Kammerman S, Bell JJ, Agosto GM. 1971. Studies of human choroionic gonadotropin. Recent Prog Horm Res 27: 121.
24.Carr RF, Ochs RH, Ritter DA, Kenny JD, Fridey JL, Ming PM. 1986. Fetal cystic hygroma and Turner''s syndrome. Am J Dis Child 140: 580-583.
25.Cheng PJ, Liu CM, Chueh HY, Lin CM, Soong YK. 2003. First-trimester nuchal translucency measurement and echocardiography at 16 to 18 weeks of gestation in prenatal detection for trisomy 18. Prenat Diagn 23: 248-251.
26.Cicero S, Curcio P, Papageorghiou A, Sonek J, Nicolaides K. 2001. Absence of nasal bone in fetuses with trisomy 21 at 11 —14 weeks of gestation: an observational study. Lancet 358: 1665-1667.
27.Cuckle HS, Wald NJ. 1984. Maternal serum alpha-fetoprotein measurement: a screening test for Down''s syndrome. Lancet I: 926-929.
28.Cuckle HS, Wald NJ, Thompson SG. 1987. Estimating a woman''s risk of having a pregnancy associated with Down''s syndrome using her age and serum alpha-fetoprotein level. Br J Obstet Gynaecol 94: 387-402.
29.Cuckle HS. 2001. Integrating antenatal Down’s syndrome screening. Curr Opin Obstet Gynecol 13: 175-181.
30.Dimaio MS, Baumgarten A, Greenstein RM, et al.1987. Screening for fetal Down’s syndrome in pregnancy by measuring maternal serum alpha-fetoprotein levels. N Engl J Med 317: 342-346.
31.D''Ottavio G, Meir YJ, Rustico MA, Conoscenti G, Maieron A, Fischer-Tamaro L, Mandruzzato G. 1995. Pilot screening for fetal malformations: possibilities and limits of transvaginal sonography. J Ultra Med 14: 575-580.
32.Down JLH. 1866. Observations on an ethnic classifications on idios. London Hospital Reports 3: 259-262.
33.Edward RA. 1994. Chapter 39 Clinical chemistry of pregnancy. In Carl AB&Edward RA, editor. Tietz textbook of clinical chemistry. 2nd ed. Philadelphia: W.B. Saunders; 2107-2148.
34.Elias S, Simpson JL, Bombard A. 1998. Amniocentesis and fetal blood sample. In Milunsky A, editor. Genetic disorders of the fetus. 4th ed. Baltimore, MD: Johns Hopkins Univ Press p. 53-82.
35.Goodwin BA, Huether CA. 1987. Revised estimates and projections of Down syndrome births in the United States, and the effects of prenatal diagnosis utilization, 1970-2002. Prenat Diagn 7: 261-271.
36.Griffiths, Anthony J.F.; Miller, Jeffrey H.; Suzuki, David T.; Lewontin, Richard C.; Gelbart, William M.1999. Chromosome Mutation II: Changes in Chromosome Number An Introduction to Genetic Analysis 7th ed.
37.Hallahan T, Krantz D, Orlandi F, et al. 2000. First trimester biochemical screening for Down syndrome: free beta hCG versus intact hCG. Prenat Diagn 20: 785- 9.
38.Haper ME, Dugaiczyk A.1983. Linkage of the evolutionarily-related serum albumin and α-fetoprotein genes within q11-22 of human chromosome 4. Am J Hum Genet 35: 565-572.
39.Hassold TJ, Jacobs PA. 1984. Trisomy in man. Annu Rev Genet 18: 69-97.
40.Holding S. 2002. Current state of screening for Down’s syndrome. Ann Clin Biochem 39(Pt 1): 1-11.
41.Hook EB. 1981. Rates of chromosome abnormalities at different maternal ages. Obstet Gynecol 58: 282-285.
42.Hsieh FJ, Shyu MK, Sheu BC, Lin SP, Chen CP, Huang FY. 1995. Limb defects after chorionic villus sampling. Obstet Gynecol 85: 84-88.
43.Huther CA, Martin RLM, Stoppelman SM, D’Souza S, Bishop JK, Torfs Cp, Lorey F, May KM, Hanna JS, Bair PA, Kelly JC. 1996. Sex ratios in fetues and liveborn infants with autosomal aneuploidy. Am J Med Genet 63: 492-500.
44.Hyett J, Perdu M, Sharland G, Snijders R, Nicolaides KH. 1999. Using fetal nuchal translucency to screen for major congenital cardiac defects at 10—14 weeks of gestation: population based cohort study. BMJ 318: 81-85.
45.ISCN 1995. Mitelman F (ed.) An International System for Human Cytogenetics Nomenclature. Basel : S. Karger, 1995.
46.Jackson JF, North ER 3rd, Thomas JG. 1976. Clinical diagnosis of Down syndrome. Clin Genet 9: 483-487.
47.Jacobs PA, Mayer M. 1981. The origin of Homan trisomy: a study of heteromorphisms and satellite associations. Ann Hum Genet 45: 357-365.
48.Jones KL. 1997. Down syndrome. In: Jones KL, ed. Smith’s recognizable patterns of human malformation. Philadelphia: W.B. Saunders; 8-13.
49.Jou HJ, Shyu MK, Chen SM, Shih JC, Hsu JJ, Hsieh FJ. 2000. Maternal serum screening for Down syndrome by using alpha-fetoprotein and human chrionic gonadotropin in an Asian population. A prospective study. Fetal Diagn Ther 15:108-111.
50.Jou HJ, Wu SC, Li TC, Hsu HC, Tzeng CY, Hsieh FJ. 2001. Relationship between fetal nuchal translucency and crown-rump length in an Asian population. Ultrasound Obstet Gynecol 17: 111-114.
51.Kellner LH, Weiner Z, Weiss RR, Neuer M, Martin GM, Mueenuddin M, Bombard A. 1995. Triple marker(α-fetoprotein, unconjugated estriol, human chorionic gonadotropin)vs. α-fetoprotein plus free- subunit in second-trimester maternal serum screening for fetal Down syndrome:a prospective comparison study. Am J Obstet Gynecol 173: 1306-1309.
52.Lau HL, Linkins SE. 1976. Alpha-fetoprotein. Am J Obstet Gynecol 124: 533-534.
53.Lejeune, J., Gautier, M., Turpin, R. 1959. Etube des chromosomes somatiques de neu enfants mogoliens. CR Hebd Seances Acad Sci Paris. 248: 1721-2.
54.Merkatz IR, Nitowsky HM, Macri JN, Johnson WE. 1984. An association between low maternal serum alpha-fetoprotein and fetal chromosomal abnormalities. Am J Obstet Gynecol 148: 886-894.
55.Mikkelsen M. 1982. Parental origin of extra chromosome in Down’s syndrome. J Met Defic Res 26:143-151.
56.Milunsky A, Alpert E, Neff RK, Frigoletto Jr FD. 1980. Prenatal Diagnosis of neural tube defects. IV. Maternal serum α-fetoprotein screening. Obstet Gynecol 55:60-66.
57.Niebuhr E.1974. Down''s syndrome. The possibility of a pathogenetic segment on chromosome no. 21. Humangenetik 21: 99-101.
58.Nicolaides KH, Azar G, Byrne D, Mansur C, and Marks K. 1992 Fetal nuchal translucency: ultrasound screening for chromosomal defects in first trimestic of pregnancy. Br Med J 304: 867-869.
59.Nicolaides KH, Brizot ML, Snijders RJ. 1994. Fetal nuchal translucency: ultrasound screening for fetal trisomy in the first trimestic of pregnancy. Br J Obstet Gynecol 101: 782-786.
60.Pandya PP, Snijders RJ, Johnson SP, De Lourdes Brizot M, Nicolaides KH. 1995. Screening for fetal trisomies by maternal age and fetal nuchal translucency thickness at 10 to 14 weeks of gestation. Br J Obstet Gynaecol 102: 957-962.
61.Penrose LS. 1933. The relative effects of paternal and maternal age in mogolism. J Genet 27: 219.
62.Pueschal SM. 1990. Clinical aspects of Down syndrome from infancy to adulthood. Am J Med Genet supp. 7: 52-56.
63.Robinson HP, Fleming JEE. 1975. A critical evaluation of sonar ‘crown-rump length’ measurements. Br J Obstet Gynecol 82:702-710.
64.Rozenberg P, Malagrida L, Cuckle H, Durand-Zaleski I, Nisand I, et al..2002. Down''s syndrome screening with nuchal translucency at 12+0-14+0 weeks and maternal serum markers at 14+1-17+0 weeks: a prospective study. Hum Reprod. 17:1093-1098.
65.Serr DM, Sachs L, Danon M. 1955. The diagnosis of sex before birth using cells from the amniotic fluid (a preliminary report). Bull Res Counc Isr 5B: 137-138.
66.Simpson, JL. Pregnancies in women with chromosomal abnormalities. In Schulman, J. D., and Simpson, J. L., editors: Genetic Diseases in Pregnancy, New York, 1981, Academic Press, chap. 13.
67.Snijders RJM, Sebire NJ, Nicolaids KH. 1995. Maternal age and gestational age-specific risk for chromosomal defects. Prenat Diagn 10: 356-367.
68.Spahis JK, Wilsom GN. 1999. Down syndrome: perinatal complications and counseling experiences in 216 patients. Am J Med Genet 89: 96-99.
69.Spencer K, Liao AW, Skentou H, Cicero S, Nicolaides KH. 2000. Screening for triploidy by fetal nuchal translucency and maternal serum free beta-hCG and PAPP-A at 10— 14 weeks of gestation. Prenat Diagn 20: 495-499.
70.Stabile I, Grudzinskas JG, Chard T. 1988. Clinical applications of pregnancy protein estimations with particular reference to pregnancy-associated plasma protein A (PAPP-A). Obstet Gynecol Surv 43: 73-82.
71.Stewart TL, Malone FD. 1999. First trimester screening for aneuploidy: nuchal translucency sonography. Semin Perinatol. 23: 369-381.
72.Szabó J, Gellén J. 1990. Nuchal fluid accumulation in trisomy-21 detected by vaginosonography in first trimester. Lancet I: 336.
73.Toi A, Simpson GF, Filly RA. 1987. Ultrasonically evident fetal nuchal skin thickening: is it specific for Down syndrome? Am J Obstet Gynecol 156:150-153.
74.U.K. Collaborative Study: Maternal serum-alpha-fetoprotein measurement in antenatal screening for anencephaly and spina bifida in early pregnancy.1977 Report of U.K. collaborative study on alpha-fetoprotein in relation to neural tube defects. Lancet I: 1323-1332.
75.Valenti C, Schutta EJ, Kehaty T. 1968. Prenatal diagnosis of Down’s syndrome. Lancet II: 220.
76.Voigt HJ, Claussen U, Ulmer R. 1986. Fetal neck edema--early sonographic indications of a chromosome abnormality. Geburtshilfe Frauenheilkd. 46: 879-882.
77.Wald N, Cuckle H. 1988. AFP and age screening for Down syndrome. Am J Med Gene 31:197-209.
78.Wald NJ, Densem JW, Smith D, Klee GG. 1994. Four-marker serum screening for Down’s syndrome. Prenat Diagn 14: 707-716.
79.Wald NJ, Densem JW, George L, Muttukrishna S, Knight PG. 1996. Prenatal screening for Down’s syndrome using inhibin-A as a serum marker. Prenat Diagn 16: 143-152.
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2. 蘇耿賦(民84)。不同代表隊基本體能之比較及動力相關之研究。嘉義農專學報,第40期,193-215。
3. 蘇秦玉(民86)。優秀曲棍球選手體適能測驗之探討。聯合學報,第15期,135-159。
4. 薛慧玲、曾媚美(民90)。足球運動專項體能評定指標之探討。大專體育,第56期,27-33。
5. 蔡佳良、相子元(民89)。籃球訓練對國小學童體適能之影響。國立體育學院論叢,第11卷第1期,127-150。
6. 劉立宇(民84)。國小高年級學童運動頻數對體適能的影響。中華民國體育學會體育學報,第二十輯,433-442。
7. 陳嫣芬、林冠群(民84)。不同的教學設計對大專女生健康體能之影響。中華民國體育學會體育學報,第二十輯,421-432。
8. 陳新福、邱懿瑩(民84)。不同位置足球選手身體生理及體能特徵的比較研究。大專體育,第16期,84-91。
9. 陳金海、侯淑玲(民89)。長榮女子高級中學桌球隊特屬運動能力之分析。長榮學報,第4卷第1期,59-71。
10. 陳文良(民88)。陸軍戰鬥體適能測量項目之編制研究。大專體育學刊,第1卷第1期,71-83。
11. 張木山(民85)。排球運動專項體能評估分析。國立體育學院論叢,第6卷第1期,217-236。
12. 林順萍、陳俊忠(民82)。田徑訓練對國小六年級學生神經傳導速度、動作反應時間、敏捷性及瞬發力之影響。國立體育學院論叢,第3卷第2期,171-189。
13. 林順萍、陳俊忠(民82)。田徑訓練對國小六年級學生神經傳導速度、動作反應時間、敏捷性及瞬發力之影響。國立體育學院論叢,第3卷第2期,171-189。
14. 林文乙(民84)。國立政治大學橄欖球與非橄欖球運動代表隊體適能之比較分析。政大體育,第8期,133-154。
15. 李孟印、陳全壽(民87)。巧固球訓練對國小學生大、小肌肉活動能力之影響。體育學報,第26輯,273-280。