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Volumn 58, Issue 1, 2013, Pages 26-33

Noninvasive fetal diagnosis: Promise versus practicality

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[No Author keywords available]

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EID: 84875339645     PISSN: 00903159     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (1)

References (25)
  • 1
    • 0342618532 scopus 로고    scopus 로고
    • Presence of fetal DNA in maternal plasma and serum
    • Lo YM, Corbetta N, Chamberlain PF, et al. Presence of fetal DNA in maternal plasma and serum. Lancet. 1997;350(9076):485-487.
    • (1997) Lancet , vol.350 , Issue.9076 , pp. 485-487
    • Lo, Y.M.1    Corbetta, N.2    Chamberlain, P.F.3
  • 2
    • 84862118837 scopus 로고    scopus 로고
    • Noninvasive whole-genome sequencing of a human fetus
    • 137ra76
    • Kitzman JO, Snyder MW, Ventura M, et al. Noninvasive whole-genome sequencing of a human fetus. Sci Transl Med. 2012;4(137):137ra76.
    • (2012) Sci Transl Med , vol.4 , Issue.137
    • Kitzman, J.O.1    Snyder, M.W.2    Ventura, M.3
  • 3
    • 55849124028 scopus 로고    scopus 로고
    • Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood
    • Fan HC, Blumenfeld YJ, Chitkara U, Hudgins L, Quake SR. Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc Natl Acad Sci U S A. 2008;105(42):16266-16271.
    • (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    Hudgins, L.4    Quake, S.R.5
  • 4
    • 84859320067 scopus 로고    scopus 로고
    • Chromosome-selective sequencing of maternal plasma cell-free DNA for first-trimester detection of trisomy 21 and trisomy 18
    • e1-322.e5
    • Ashoor G, Syngelaki A, Wagner M, Birdir C, Nicolaides KH. 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.e1-322.e5.
    • (2012) Am J Obstet Gynecol , vol.206 , Issue.4 , pp. 322
    • Ashoor, G.1    Syngelaki, A.2    Wagner, M.3    Birdir, C.4    Nicolaides, K.H.5
  • 5
    • 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
    • e1-319.e9
    • Sparks AB, Struble CA, Wang ET, Song K, Oliphant A. 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. 2012;206(4):319.e1-319.e9.
    • (2012) Am J Obstet Gynecol , vol.206 , Issue.4 , pp. 319
    • Sparks, A.B.1    Struble, C.A.2    Wang, E.T.3    Song, K.4    Oliphant, A.5
  • 6
    • 78751683468 scopus 로고    scopus 로고
    • Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: Large scale validity study
    • Chiu RW, Akolekar R, Zheng YW, 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
    • Chiu, R.W.1    Akolekar, R.2    Zheng, Y.W.3
  • 7
    • 79952302397 scopus 로고    scopus 로고
    • Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: A study in a clinical setting
    • e1-2 0 5. e11
    • 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. e1-2 0 5. e11.
    • (2011) Am J Obstet Gynecol , vol.204 , Issue.3 , pp. 205
    • Ehrich, M.1    Deciu, C.2    Zwiefelhofer, T.3
  • 8
    • 84860213983 scopus 로고    scopus 로고
    • Maternal Blood is Source to Accurately Diagnose Fetal Aneuploidy (MELISSA) Study Group. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing
    • Bianchi DW, Platt LD, Goldberg JD, et al; Maternal Blood is Source to Accurately Diagnose Fetal Aneuploidy (MELISSA) Study Group. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol. 2012;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
  • 9
    • 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
    • e1-137.e8
    • 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.e1-137.e8.
    • (2012) Am J Obstet Gynecol , vol.207 , Issue.2 , pp. 137
    • Norton, M.E.1    Brar, H.2    Weiss, J.3
  • 10
    • 84868029481 scopus 로고    scopus 로고
    • Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population
    • e1- 374.e 6
    • Nicolaides KH, Syngelaki A, Ashoor G, Birdir C, Touzet G. Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population. Am J Obstet Gynecol. 2012;207(5):374. e1- 374.e 6.
    • (2012) Am J Obstet Gynecol , vol.207 , Issue.5 , pp. 374
    • Nicolaides, K.H.1    Syngelaki, A.2    Ashoor, G.3    Birdir, C.4    Touzet, G.5
  • 11
    • 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;32:1-9.
    • (2012) Prenat Diagn , vol.32 , pp. 1-9
    • Zimmermann, B.1    Hill, M.2    Gemelos, G.3
  • 12
    • 0026327650 scopus 로고
    • Prenatal diagnosis with fetal cells isolated from maternal blood by multiparameter flow cytometry
    • Price JO, Elias S, Wachtel SS, et al. Prenatal diagnosis with fetal cells isolated from maternal blood by multiparameter flow cytometry. Am J Obstet Gynecol. 1991;165(6 part 1):1731-1737.
    • (1991) Am J Obstet Gynecol , vol.165 , Issue.6 PART 1 , pp. 1731-1737
    • Price, J.O.1    Elias, S.2    Wachtel, S.S.3
  • 14
    • 0027770943 scopus 로고
    • Detection of fetal trisomies 21 and 18 from maternal blood using triple gradient and magnetic cell sorting
    • Gänshirt-Ahlert D, Börjesson-Stoll R, Burschyk M, et al. Detection of fetal trisomies 21 and 18 from maternal blood using triple gradient and magnetic cell sorting. Am J Reprod Immunol. 1993;30(2-3):194-201.
    • (1993) Am J Reprod Immunol , vol.30 , Issue.2-3 , pp. 194-201
    • Gänshirt-Ahlert, D.1    Börjesson-Stoll, R.2    Burschyk, M.3
  • 15
    • 0027496707 scopus 로고
    • Isolating fetal cells from maternal blood. Advances in prenatal diagnosis through molecular technology
    • Simpson JL, Elias S. Isolating fetal cells from maternal blood. Advances in prenatal diagnosis through molecular technology. JAMA. 1993;270(19):2357-2361.
    • (1993) JAMA , vol.270 , Issue.19 , pp. 2357-2361
    • Simpson, J.L.1    Elias, S.2
  • 16
    • 0036635237 scopus 로고    scopus 로고
    • Fetal gender and aneuploidy detection using fetal cells in maternal blood: Analysis of NIFTY I data. National Institute of Child Health and Development Fetal Cell Isolation Study
    • Bianchi DW, Simpson JL, Jackson LG, et al. Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I data. National Institute of Child Health and Development Fetal Cell Isolation Study. Prenat Diagn. 2002;22(7):609-615.
    • (2002) Prenat Diagn , vol.22 , Issue.7 , pp. 609-615
    • Bianchi, D.W.1    Simpson, J.L.2    Jackson, L.G.3
  • 17
    • 0034734711 scopus 로고    scopus 로고
    • Prenatal DNA diagnosis of a single-gene disorder from maternal plasma
    • Saito H, Sekizawa A, Morimoto T, Suzuki M, Yanaihara T. Prenatal DNA diagnosis of a single-gene disorder from maternal plasma. Lancet. 2000;356(9236):1170.
    • (2000) Lancet , vol.356 , Issue.9236 , pp. 1170
    • Saito, H.1    Sekizawa, A.2    Morimoto, T.3    Suzuki, M.4    Yanaihara, T.5
  • 18
    • 84859757903 scopus 로고    scopus 로고
    • Report of the first nationally implemented clinical routine screening for fetal RHD in D- pregnant women to ascertain the requirement for antenatal RhD prophylaxis
    • Clausen FB, Christiansen M, Steffensen R, et al. Report of the first nationally implemented clinical routine screening for fetal RHD in D- pregnant women to ascertain the requirement for antenatal RhD prophylaxis. Transfusion. 2012;52(4):752-758.
    • (2012) Transfusion , vol.52 , Issue.4 , pp. 752-758
    • Clausen, F.B.1    Christiansen, M.2    Steffensen, R.3
  • 19
    • 84861480719 scopus 로고    scopus 로고
    • Noninvasive prenatal detection of chromosomal aneuploidies using different next generation sequencing strategies and algorithms
    • Stumm M, Entezami M, Trunk N, et al. Noninvasive prenatal detection of chromosomal aneuploidies using different next generation sequencing strategies and algorithms. Prenat Diagn. 2012;32(6):569-577.
    • (2012) Prenat Diagn , vol.32 , Issue.6 , pp. 569-577
    • Stumm, M.1    Entezami, M.2    Trunk, N.3
  • 20
    • 77949964519 scopus 로고    scopus 로고
    • Preclinical validation of a microarray method for full molecular karyotyping of blastomeres in a 24-h protocol
    • Johnson DS, Gemelos G, Baner J, et al. Preclinical validation of a microarray method for full molecular karyotyping of blastomeres in a 24-h protocol. Hum Reprod. 2010;25(4):1066-1075.
    • (2010) Hum Reprod , vol.25 , Issue.4 , pp. 1066-1075
    • Johnson, D.S.1    Gemelos, G.2    Baner, J.3
  • 21
    • 84868370281 scopus 로고    scopus 로고
    • Circulating trophoblastic cells provide genetic diagnosis in 63 fetuses at risk for cystic fibrosis or spinal muscular atrophy
    • Mouawia H, Saker A, Jais JP, et al. Circulating trophoblastic cells provide genetic diagnosis in 63 fetuses at risk for cystic fibrosis or spinal muscular atrophy. Reprod Biomed Online. 2012;25(5):508-520.
    • (2012) Reprod Biomed Online , vol.25 , Issue.5 , pp. 508-520
    • Mouawia, H.1    Saker, A.2    Jais, J.P.3
  • 22
    • 84864310059 scopus 로고    scopus 로고
    • Fetal sex determination using cell-free fetal DNA: Service users' experiences of and preferences for service delivery
    • Lewis C, Hill M, Skirton H, Chitty LS. Fetal sex determination using cell-free fetal DNA: service users' experiences of and preferences for service delivery. Prenat Diagn. 2012;32(8):735-741.
    • (2012) Prenat Diagn , vol.32 , Issue.8 , pp. 735-741
    • Lewis, C.1    Hill, M.2    Skirton, H.3    Chitty, L.S.4
  • 23
    • 84870549609 scopus 로고    scopus 로고
    • Chromosomal microarray versus karyotyping for prenatal diagnosis
    • Wapner RJ, Martin CL, Levy B, et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med. 2012;367(23):2175-2184.
    • (2012) N Engl J Med , vol.367 , Issue.23 , pp. 2175-2184
    • Wapner, R.J.1    Martin, C.L.2    Levy, B.3
  • 24
    • 84870156368 scopus 로고    scopus 로고
    • Committee opinion no. 545: Noninvasive prenatal testing for fetal aneuploidy
    • Committee opinion no. 545: noninvasive prenatal testing for fetal aneuploidy. Obstet Gynecol. 2012;120(6):1532-1534.
    • (2012) Obstet Gynecol , vol.120 , Issue.6 , pp. 1532-1534
  • 25
    • 84870688045 scopus 로고    scopus 로고
    • Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11 105 pregnancies with mixed risk factors
    • Dan S, Wang W, Ren J, et al. Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11 105 pregnancies with mixed risk factors. Prenat Diagn. 2012;32(13):1225-1232.
    • (2012) Prenat Diagn , vol.32 , Issue.13 , pp. 1225-1232
    • Dan, S.1    Wang, W.2    Ren, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.