메뉴 건너뛰기




Volumn 35, Issue 5, 2015, Pages 471-476

Non-invasive prenatal testing for trisomy 21 based on analysis of cell-free fetal DNA circulating in the maternal plasma

Author keywords

[No Author keywords available]

Indexed keywords

CIRCULAR DNA; DNA FRAGMENT; DNA;

EID: 84928418919     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.4561     Document Type: Article
Times cited : (17)

References (41)
  • 1
    • 33644889373 scopus 로고    scopus 로고
    • Down syndrome screening in the first and second trimesters: what do the data show?
    • Rosen T, D'Alton ME. Down syndrome screening in the first and second trimesters: what do the data show? Semin Perinatol 2005;29(6):367-75.
    • (2005) Semin Perinatol , vol.29 , Issue.6 , pp. 367-375
    • Rosen, T.1    D'Alton, M.E.2
  • 2
    • 23644431888 scopus 로고    scopus 로고
    • First and second trimester evaluation of risk for fetal aneuploidy: the secondary outcomes of the FASTER Trial
    • D'Alton M, Cleary-Goldman J. First and second trimester evaluation of risk for fetal aneuploidy: the secondary outcomes of the FASTER Trial. Semin Perinatol 2005;29(4):240-6.
    • (2005) Semin Perinatol , vol.29 , Issue.4 , pp. 240-246
    • D'Alton, M.1    Cleary-Goldman, J.2
  • 3
    • 33947274733 scopus 로고    scopus 로고
    • Aneuploidy screening in the first trimester
    • Spencer K. Aneuploidy screening in the first trimester. Am J Med Genet Part C Semin Med Genet 2007;145c:18-32.
    • (2007) Am J Med Genet Part C Semin Med Genet , vol.145 c , pp. 18-32
    • Spencer, K.1
  • 4
    • 33644756193 scopus 로고    scopus 로고
    • Comparing three screening strategies for combining first- and second-trimester Down syndrome markers
    • Palomaki GE, Steinort K, Knight GJ, Haddow JE. Comparing three screening strategies for combining first- and second-trimester Down syndrome markers. Obstet Gynecol 2006 Feb;107(2 Pt 1):367-75.
    • (2006) Obstet Gynecol , vol.107 , Issue.2 , pp. 367-375
    • Palomaki, G.E.1    Steinort, K.2    Knight, G.J.3    Haddow, J.E.4
  • 5
    • 76449093190 scopus 로고    scopus 로고
    • Update on procedure-related risks for prenatal diagnosis techniques
    • Tabor A, Alfirevic Z. Update on procedure-related risks for prenatal diagnosis techniques. Fetal Diagn Ther 2010;27(1):1-7.
    • (2010) Fetal Diagn Ther , vol.27 , Issue.1 , pp. 1-7
    • Tabor, A.1    Alfirevic, Z.2
  • 6
    • 34548405957 scopus 로고    scopus 로고
    • Procedure-related complications of amniocentesis and chorionic villous sampling: a systematic review
    • Mujezinovic F, Alfirevic Z. Procedure-related complications of amniocentesis and chorionic villous sampling: a systematic review. Obstet Gynecol 2007;110(3):687.
    • (2007) Obstet Gynecol , vol.110 , Issue.3 , pp. 687
    • Mujezinovic, F.1    Alfirevic, Z.2
  • 7
    • 84920848763 scopus 로고    scopus 로고
    • Procedure related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysis
    • Akolekar R, et al. Procedure related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysis. Ultrasound Obstet Gynecol 2015;45:16-26. doi:10.1002/uog.14636.
    • (2015) Ultrasound Obstet Gynecol , vol.45 , pp. 16-26
    • Akolekar, R.1
  • 8
    • 58149490683 scopus 로고    scopus 로고
    • Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma
    • Chiu RWK, Chan KCA, Gao Y, et al. Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Proc Natl Acad Sci 2008;105(51):20458-63.
    • (2008) Proc Natl Acad Sci , vol.105 , Issue.51 , pp. 20458-20463
    • Chiu, R.W.K.1    Chan, K.C.A.2    Gao, Y.3
  • 9
    • 55849124028 scopus 로고    scopus 로고
    • Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood
    • Fan HC, Blumenfeld YJ, Chitkara U, et al. Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc Natl Acad Sci U S A 2008;105(42):16266-71.
    • (2008) Proc Natl Acad Sci U S A , vol.105 , Issue.42 , pp. 16266-16271
    • Fan, H.C.1    Blumenfeld, Y.J.2    Chitkara, U.3
  • 10
    • 78751683468 scopus 로고    scopus 로고
    • Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study
    • Chiu RWK, Akolekar R, Zheng YWL, et al. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. BMJ 2011;342:c7401.
    • (2011) BMJ , vol.342 , pp. c7401
    • Chiu, R.W.K.1    Akolekar, R.2    Zheng, Y.W.L.3
  • 11
    • 77952543729 scopus 로고    scopus 로고
    • Using population-based data to predict the impact of introducing noninvasive prenatal diagnosis for Down syndrome
    • Susman MR, Amor DJ, Muggli E, et al. Using population-based data to predict the impact of introducing noninvasive prenatal diagnosis for Down syndrome. Genet Med 2010;12(5):298-303.
    • (2010) Genet Med , vol.12 , Issue.5 , pp. 298-303
    • Susman, M.R.1    Amor, D.J.2    Muggli, E.3
  • 12
    • 84857868297 scopus 로고    scopus 로고
    • DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study
    • Palomaki GE, Deciu C, Kloza EM, et al. DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genet Med 2012;14(3):296-305.
    • (2012) Genet Med , vol.14 , Issue.3 , pp. 296-305
    • Palomaki, G.E.1    Deciu, C.2    Kloza, E.M.3
  • 13
    • 80755172331 scopus 로고    scopus 로고
    • DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study
    • Palomaki GE, Kloza EM, Lambert-Messerlian GM, et al. DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med 2011;13(11):913-20.
    • (2011) Genet Med , vol.13 , Issue.11 , pp. 913-920
    • Palomaki, G.E.1    Kloza, E.M.2    Lambert-Messerlian, G.M.3
  • 14
    • 34548727890 scopus 로고    scopus 로고
    • Digital PCR for the molecular detection of fetal chromosomal aneuploidy
    • Lo YM, Lun FM, Chan KC, et al. Digital PCR for the molecular detection of fetal chromosomal aneuploidy. Proc Natl Acad Sci U S A 2007;104(32):13116-21.
    • (2007) Proc Natl Acad Sci U S A , vol.104 , Issue.32 , pp. 13116-13121
    • Lo, Y.M.1    Lun, F.M.2    Chan, K.C.3
  • 15
    • 79952302397 scopus 로고    scopus 로고
    • Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting
    • Ehrich M, Deciu C, Zwiefelhofer T, et al. Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting. Am J Obstet Gynecol 2011;204(3):205.e1-11.
    • (2011) Am J Obstet Gynecol , vol.204 , Issue.3 , pp. 2051-20511
    • Ehrich, M.1    Deciu, C.2    Zwiefelhofer, T.3
  • 16
    • 35348999450 scopus 로고    scopus 로고
    • Detection of aneuploidy with digital polymerase chain reaction
    • Fan HC, Quake SR. Detection of aneuploidy with digital polymerase chain reaction. Anal Chem 2007;79(19):7576-9.
    • (2007) Anal Chem , vol.79 , Issue.19 , pp. 7576-7579
    • Fan, H.C.1    Quake, S.R.2
  • 17
    • 84868029481 scopus 로고    scopus 로고
    • Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population
    • Nicolaides KH, Syngelaki A, Ashoor G, et al. Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population. Am J Obstet Gynecol 2012;207(5):374.e1-6.
    • (2012) Am J Obstet Gynecol , vol.207 , Issue.5 , pp. 3741-3746
    • Nicolaides, K.H.1    Syngelaki, A.2    Ashoor, G.3
  • 18
    • 84857502701 scopus 로고    scopus 로고
    • Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy
    • Sparks AB, Wang ET, Struble CA, et al. Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy. Prenat Diagn 2012a;32(1):3-9.
    • (2012) Prenat Diagn , vol.32 , Issue.1 , pp. 3-9
    • Sparks, A.B.1    Wang, E.T.2    Struble, C.A.3
  • 19
    • 84859361254 scopus 로고    scopus 로고
    • Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18
    • Sparks AB, Struble CA, Wang ET, et al. Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18. Am J Obstet Gynecol 2012b;206(4):319.e1-9.
    • (2012) Am J Obstet Gynecol , vol.206 , Issue.4 , pp. 3191-3199
    • Sparks, A.B.1    Struble, C.A.2    Wang, E.T.3
  • 20
    • 84859320067 scopus 로고    scopus 로고
    • Chromosome- selective sequencing of maternal plasma cell-free DNA for first-trimester detection of trisomy 21 and trisomy 18
    • Ashoor G, Syngelaki A, Wagner M, et al. Chromosome- selective sequencing of maternal plasma cell-free DNA for first-trimester detection of trisomy 21 and trisomy 18. Am J Obstet Gynecol 2012;206(4):322.e1-5.
    • (2012) Am J Obstet Gynecol , vol.206 , Issue.4 , pp. 3221-3225
    • Ashoor, G.1    Syngelaki, A.2    Wagner, M.3
  • 21
    • 79959759113 scopus 로고    scopus 로고
    • Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood
    • Sehnert AJ, Rhees B, Comstock D, et al. Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood. Clin Chem 2011;57(7):1042-9.
    • (2011) Clin Chem , vol.57 , Issue.7 , pp. 1042-1049
    • Sehnert, A.J.1    Rhees, B.2    Comstock, D.3
  • 22
    • 79959937504 scopus 로고    scopus 로고
    • Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing
    • Chen EZ, Chiu RWK, 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.
    • (2011) PLoS One , vol.6 , Issue.7 , pp. e21791
    • Chen, E.Z.1    Chiu, R.W.K.2    Sun, H.3
  • 23
    • 84860213983 scopus 로고    scopus 로고
    • Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing
    • Bianchi DW, Platt LD, Goldberg JD, et al. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol 2012a;119(5):890-901.
    • (2012) Obstet Gynecol , vol.119 , Issue.5 , pp. 890-901
    • Bianchi, D.W.1    Platt, L.D.2    Goldberg, J.D.3
  • 24
    • 67650711615 scopus 로고    scopus 로고
    • SOAP2: an improved ultrafast tool for short read alignment
    • Li R, Yu C, Li Y, et al. SOAP2: an improved ultrafast tool for short read alignment. Bioinformatics 2009;25(15):1966-7.
    • (2009) Bioinformatics , vol.25 , Issue.15 , pp. 1966-1967
    • Li, R.1    Yu, C.2    Li, Y.3
  • 25
    • 84878130004 scopus 로고    scopus 로고
    • Commercial landscape of noninvasive prenatal testing in the United States: commercialization of noninvasive prenatal testing
    • Agarwal A, Sayres LC, Cho MK, et al. Commercial landscape of noninvasive prenatal testing in the United States: commercialization of noninvasive prenatal testing. Prenat Diagn 2013;33(6):521-31.
    • (2013) Prenat Diagn , vol.33 , Issue.6 , pp. 521-531
    • Agarwal, A.1    Sayres, L.C.2    Cho, M.K.3
  • 26
    • 84864199013 scopus 로고    scopus 로고
    • Non-invasive prenatal diagnosis by massively parallel sequencing of maternal plasma DNA
    • Lo YMD. Non-invasive prenatal diagnosis by massively parallel sequencing of maternal plasma DNA. Open Biol 2012;2(6):120086.
    • (2012) Open Biol , vol.2 , Issue.6 , pp. 120086
    • Lo, Y.M.D.1
  • 27
    • 84879487413 scopus 로고    scopus 로고
    • Non-invasive prenatal testing for aneuploidy: current status and future prospects
    • Benn P, Cuckle H, Pergament E. Non-invasive prenatal testing for aneuploidy: current status and future prospects. Ultrasound Obstet Gynecol 2013;42(1):15-33.
    • (2013) Ultrasound Obstet Gynecol , vol.42 , Issue.1 , pp. 15-33
    • Benn, P.1    Cuckle, H.2    Pergament, E.3
  • 28
    • 84885189878 scopus 로고    scopus 로고
    • Noninvasive prenatal testing for trisomy 21: challenges for implementation in Australia
    • Hui L, Hyett J. Noninvasive prenatal testing for trisomy 21: challenges for implementation in Australia. Aust N Z J Obstet Gynaecol 2013;53(5):416-24.
    • (2013) Aust N Z J Obstet Gynaecol , vol.53 , Issue.5 , pp. 416-424
    • Hui, L.1    Hyett, J.2
  • 29
    • 84891558177 scopus 로고    scopus 로고
    • Current controversies in prenatal diagnosis 1: should Non-invasive DNA Testing (NIDT) be the standard screening test for Down syndrome in all pregnant women?
    • Bianchi DW, Oepkes D, Ghidini A. Current controversies in prenatal diagnosis 1: should Non-invasive DNA Testing (NIDT) be the standard screening test for Down syndrome in all pregnant women? Prenat Diagn 2014;34(1):6-11.
    • (2014) Prenat Diagn , vol.34 , Issue.1 , pp. 6-11
    • Bianchi, D.W.1    Oepkes, D.2    Ghidini, A.3
  • 30
    • 84878132186 scopus 로고    scopus 로고
    • Factors affecting the clinical use of noninvasive prenatal testing: a mixed methods systematic review
    • Skirton H, Patch C. Factors affecting the clinical use of noninvasive prenatal testing: a mixed methods systematic review. Prenat Diagn 2013;33(6):532-41.
    • (2013) Prenat Diagn , vol.33 , Issue.6 , pp. 532-541
    • Skirton, H.1    Patch, C.2
  • 31
    • 84884691011 scopus 로고    scopus 로고
    • Recommendations for a uniform assessment of publication bias related to funding source
    • Van Lent M, Overbeke J, Out HJ. Recommendations for a uniform assessment of publication bias related to funding source. BMC Med Res Methodol 2013;13:120.
    • (2013) BMC Med Res Methodol , vol.13 , pp. 120
    • Van Lent, M.1    Overbeke, J.2    Out, H.J.3
  • 32
    • 84860213983 scopus 로고    scopus 로고
    • Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing
    • Bianchi DW, Platt LD, Goldberg JD, et al. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol 2012b;119(5):890-901.
    • (2012) Obstet Gynecol , vol.119 , Issue.5 , pp. 890-901
    • Bianchi, D.W.1    Platt, L.D.2    Goldberg, J.D.3
  • 33
    • 84878164024 scopus 로고    scopus 로고
    • Validation of targeted sequencing of single-nucleotide polymorphisms for non-invasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X, and Y
    • Nicolaides KH, Syngelaki A, Gil M, et al. Validation of targeted sequencing of single-nucleotide polymorphisms for non-invasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X, and Y. Prenat Diagn 2013;33(6):575-9.
    • (2013) Prenat Diagn , vol.33 , Issue.6 , pp. 575-579
    • Nicolaides, K.H.1    Syngelaki, A.2    Gil, M.3
  • 34
    • 84879498978 scopus 로고    scopus 로고
    • First-trimester contingent screening for trisomy 21 by biomarkers and maternal blood cell-free DNA testing
    • Nicolaides KH, Wright D, Poon LC, et al. First-trimester contingent screening for trisomy 21 by biomarkers and maternal blood cell-free DNA testing. Ultrasound Obstet Gynecol 2013;42(1):41-50.
    • (2013) Ultrasound Obstet Gynecol , vol.42 , Issue.1 , pp. 41-50
    • Nicolaides, K.H.1    Wright, D.2    Poon, L.C.3
  • 35
    • 84870695892 scopus 로고    scopus 로고
    • Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci
    • Zimmermann B, Hill M, Gemelos G, et al. Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci. Prenat Diagn 2012;32(13):1233-41.
    • (2012) Prenat Diagn , vol.32 , Issue.13 , pp. 1233-1241
    • Zimmermann, B.1    Hill, M.2    Gemelos, G.3
  • 36
    • 84864408781 scopus 로고    scopus 로고
    • Non- Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18
    • Norton ME, Brar H, Weiss J, et al. Non- Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18. Am J Obstet Gynecol 2012;207(2):137.e1-8.
    • (2012) Am J Obstet Gynecol , vol.207 , Issue.2 , pp. 1371-1378
    • Norton, M.E.1    Brar, H.2    Weiss, J.3
  • 37
    • 84928432504 scopus 로고    scopus 로고
    • Non-invasive prenatal diagnosis of fetal aneuploidies using massively parallel sequencing-by-ligation and evidence that cell-free fetal DNA in the maternal plasma originates from cytotrophoblastic cells
    • Faas BH, de Ligt J, Janssen I, et al. Non-invasive prenatal diagnosis of fetal aneuploidies using massively parallel sequencing-by-ligation and evidence that cell-free fetal DNA in the maternal plasma originates from cytotrophoblastic cells. Expert Opin Biol Ther 2012;16:1-8.
    • (2012) Expert Opin Biol Ther , vol.16 , pp. 1-8
    • Faas, B.H.1    de Ligt, J.2    Janssen, I.3
  • 38
    • 33749542504 scopus 로고    scopus 로고
    • The importance of careful blood processing in isolation of cell-free DNA
    • Page K, Powles T, Slade MJ, et al. The importance of careful blood processing in isolation of cell-free DNA. Ann N Y Acad Sci 2006;1075:313-7.
    • (2006) Ann N Y Acad Sci , vol.1075 , pp. 313-317
    • Page, K.1    Powles, T.2    Slade, M.J.3
  • 39
    • 0034872431 scopus 로고    scopus 로고
    • Effects of blood-processing protocols on fetal and total DNA quantification in maternal plasma
    • Chiu RW, Poon LL, Lau TK, et al. Effects of blood-processing protocols on fetal and total DNA quantification in maternal plasma. Clin Chem 2001;47(9):1607-13.
    • (2001) Clin Chem , vol.47 , Issue.9 , pp. 1607-1613
    • Chiu, R.W.1    Poon, L.L.2    Lau, T.K.3
  • 40
    • 84879463003 scopus 로고    scopus 로고
    • Views and preferences for the implementation of non-invasive prenatal diagnosis for single gene disorders from health professionals in the United Kingdom
    • Hill M, Karunaratna M, Lewis C, et al. Views and preferences for the implementation of non-invasive prenatal diagnosis for single gene disorders from health professionals in the United Kingdom. Am J Med Genet A 2013;161(7):1612-8.
    • (2013) Am J Med Genet A , vol.161 , Issue.7 , pp. 1612-1618
    • Hill, M.1    Karunaratna, M.2    Lewis, C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.