메뉴 건너뛰기




Volumn 33, Issue 6, 2013, Pages 511-513

Noninvasive prenatal testing: The paradigm is shifting rapidly

Author keywords

[No Author keywords available]

Indexed keywords

IMMUNOGLOBULIN D ANTIBODY;

EID: 84878144362     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.4136     Document Type: Editorial
Times cited : (54)

References (41)
  • 1
    • 77954139153 scopus 로고    scopus 로고
    • From Michael to microarrays: 30years of studying fetal cells and nucleic acids in maternal blood
    • Bianchi DW. From Michael to microarrays: 30years of studying fetal cells and nucleic acids in maternal blood. Prenat Diagn 2010;30:622-623.
    • (2010) Prenat Diagn , vol.30 , pp. 622-623
    • Bianchi, D.W.1
  • 2
    • 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
  • 3
    • 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
  • 4
    • 80051564369 scopus 로고    scopus 로고
    • Noninvasive fetal sex determination using cell-free fetal DNA: a systematic review and meta-analysis
    • Devaney SA, Palomaki GE, Scott JA, et al. Noninvasive fetal sex determination using cell-free fetal DNA: a systematic review and meta-analysis. JAMA 2011;306:627-636.
    • (2011) JAMA , vol.306 , pp. 627-636
    • Devaney, S.A.1    Palomaki, G.E.2    Scott, J.A.3
  • 5
    • 0036692036 scopus 로고    scopus 로고
    • Prediction of fetal D status from maternal plasma: introduction of a new noninvasive fetal RHD genotyping service
    • Finning KM, Martin PG, Soothill PW, et al. Prediction of fetal D status from maternal plasma: introduction of a new noninvasive fetal RHD genotyping service. Transfusion. 2002;42(8):1079-1085.
    • (2002) Transfusion , vol.42 , Issue.8 , pp. 1079-1085
    • Finning, K.M.1    Martin, P.G.2    Soothill, P.W.3
  • 6
    • 84880036229 scopus 로고    scopus 로고
    • Routine testing of fetal Rhesus D status in Rhesus D negative women using a cell-free fetal DNA: an investigation into the preferences and information needs of women
    • DOI: 10.1002/pd.4135
    • Oxenford K, Silcock C, Hill M, Chitty L. Routine testing of fetal Rhesus D status in Rhesus D negative women using a cell-free fetal DNA: an investigation into the preferences and information needs of women. Prenat Diagn 2013, DOI: 10.1002/pd.4135
    • (2013) Prenat Diagn
    • Oxenford, K.1    Silcock, C.2    Hill, M.3    Chitty, L.4
  • 7
    • 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;52:752-758.
    • (2012) Transfusion , vol.52 , pp. 752-758
    • Clausen, F.B.1    Christiansen, M.2    Steffensen, R.3
  • 8
    • 84861421570 scopus 로고    scopus 로고
    • Implementing noninvasive prenatal fetal sex determination using cell-free fetal DNA in the United Kingdom
    • Hill M, Lewis C, Jenkins L, et al. Implementing noninvasive prenatal fetal sex determination using cell-free fetal DNA in the United Kingdom. Expert Opin Biol Ther 2012;12 Suppl 1:S119-S126.
    • (2012) Expert Opin Biol Ther , vol.12 , Issue.SUPPL 1
    • Hill, M.1    Lewis, C.2    Jenkins, L.3
  • 9
    • 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, et al. Fetal sex determination using cell-free fetal DNA: service users' experiences of and preferences for service delivery. Prenat Diagn 2012;32:735-741.
    • (2012) Prenat Diagn , vol.32 , pp. 735-741
    • Lewis, C.1    Hill, M.2    Skirton, H.3
  • 10
    • 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; 7576-7579.
    • (2007) Anal Chem , pp. 7576-7579
    • Fan, H.C.1    Quake, S.R.2
  • 11
    • 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;104:13116-13121.
    • (2007) Proc Natl Acad Sci U S A , vol.104 , pp. 13116-13121
    • Lo, Y.M.1    Lun, F.M.2    Chan, K.C.3
  • 12
    • 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;105:16266-16271.
    • (2008) Proc Natl Acad Sci U S A. , vol.105 , pp. 16266-16271
    • Fan, H.C.1    Blumenfeld, Y.J.2    Chitkara, U.3
  • 13
    • 58149490683 scopus 로고    scopus 로고
    • Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma
    • Chiu RW, Chan KC, 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 U S A 2008;105:20458-20463.
    • (2008) Proc Natl Acad Sci U S A , vol.105 , pp. 20458-20463
    • Chiu, R.W.1    Chan, K.C.2    Gao, Y.3
  • 14
    • 84878125815 scopus 로고    scopus 로고
    • Uptake of noninvasive prenatal testing (NIPT) in women following positive aneuploidy screening
    • Chetty S, Garabedian MJ, Norton ME. Uptake of noninvasive prenatal testing (NIPT) in women following positive aneuploidy screening. Prenat Diagn 2013;33:542-6.
    • (2013) Prenat Diagn , vol.33 , pp. 542-546
    • Chetty, S.1    Garabedian, M.J.2    Norton, M.E.3
  • 15
    • 84877619114 scopus 로고    scopus 로고
    • Non-invasive prenatal testing with cell-free DNA: US physician attitudes toward implementation in clinical practice
    • Musci TJ, Fairbrother G, Batey A, et al. Non-invasive prenatal testing with cell-free DNA: US physician attitudes toward implementation in clinical practice. Prenat Diagn 2013;33:424-428.
    • (2013) Prenat Diagn , vol.33 , pp. 424-428
    • Musci, T.J.1    Fairbrother, G.2    Batey, A.3
  • 16
    • 84878126763 scopus 로고    scopus 로고
    • Fetal aneuploidy detection by maternal plasma DNA sequencing: a technology assessment
    • Walsh JME, Goldberg JD. Fetal aneuploidy detection by maternal plasma DNA sequencing: a technology assessment. Prenat Diagn 2013;33:514-20.
    • (2013) Prenat Diagn , vol.33 , pp. 514-520
    • Walsh, J.M.E.1    Goldberg, J.D.2
  • 17
    • 84862776853 scopus 로고    scopus 로고
    • Prenatal detection of Down syndrome using massively parallel sequencing (PS): a rapid response statement from a committee on behalf of the Board of International Society for Prenatal Diagnosis, 24 October 2011
    • Benn P, Borrell A, Cuckle H, et al. Prenatal detection of Down syndrome using massively parallel sequencing (PS): a rapid response statement from a committee on behalf of the Board of International Society for Prenatal Diagnosis, 24 October 2011. Prenat Diagn 2012;32:1-2.
    • (2012) Prenat Diagn , vol.32 , pp. 1-2
    • Benn, P.1    Borrell, A.2    Cuckle, H.3
  • 18
    • 84878117512 scopus 로고    scopus 로고
    • The American College of Obstetricians and Gynecologists Committee on Genetics. The Society for Maternal-Fetal medicine publications committee. Noninvasive prenatal testing for fetal aneuploidy. Committee opinion
    • The American College of Obstetricians and Gynecologists Committee on Genetics. The Society for Maternal-Fetal medicine publications committee. Noninvasive prenatal testing for fetal aneuploidy. Committee opinion 545, 2012
    • (2012) , vol.545
  • 19
    • 84877253478 scopus 로고    scopus 로고
    • ACMG statement on noninvasive prenatal screen for fetal aneuploidy
    • doi.10.1038/gim.2013.29.
    • Gregg AR, Gross SJ, Best RG, et al. ACMG statement on noninvasive prenatal screen for fetal aneuploidy. Genet Med 2013 doi.10.1038/gim.2013.29.
    • (2013) Genet Med
    • Gregg, A.R.1    Gross, S.J.2    Best, R.G.3
  • 20
    • 84878130004 scopus 로고    scopus 로고
    • Commercial landscape of noninvasive prenatal testing in the United States
    • Agarwal A, Sayres, LC, Cho MK, et al. Commercial landscape of noninvasive prenatal testing in the United States. Prenat Diagn 2013;33:521-31.
    • (2013) Prenat Diagn , vol.33 , pp. 521-531
    • Agarwal, A.1    Sayres, L.C.2    Cho, M.K.3
  • 21
    • 84878132186 scopus 로고    scopus 로고
    • Factors affecting the clinical use of non-invasive prenatal testing: a mixed methods systematic review
    • Skirton H, Patch C. Factors affecting the clinical use of non-invasive prenatal testing: a mixed methods systematic review. Prenat Diagn 2013;33:532-41.
    • (2013) Prenat Diagn , vol.33 , pp. 532-541
    • Skirton, H.1    Patch, C.2
  • 22
    • 84878164950 scopus 로고    scopus 로고
    • Benefits and limitations of whole genome versus targeted approaches for noninvasive prenatal testing for fetal aneuploidies
    • Boon EMJ, Faas BHW. Benefits and limitations of whole genome versus targeted approaches for noninvasive prenatal testing for fetal aneuploidies. Prenat Diagn 2013;33:563-8.
    • (2013) Prenat Diagn , vol.33 , pp. 563-568
    • Boon, E.M.J.1    Faas, B.H.W.2
  • 23
    • 84878150323 scopus 로고    scopus 로고
    • clinical experience of noninvasive prenatal testing with cell-free DNA for fetal trisomies 21, 18, and 13, in a general screening population
    • Fairbrother G, Johnson S, Musci TJ, et al. clinical experience of noninvasive prenatal testing with cell-free DNA for fetal trisomies 21, 18, and 13, in a general screening population. Prenat Diagn 2013;33:1-5.
    • (2013) Prenat Diagn , vol.33 , pp. 1-5
    • Fairbrother, G.1    Johnson, S.2    Musci, T.J.3
  • 24
    • 84878120833 scopus 로고    scopus 로고
    • Initial clinical laboratory experience in noninvasive prenatal testing for fetal aneuploidy from maternal plasma DNA samples
    • Futch T, Spinosa J, Bhatt S, et al. Initial clinical laboratory experience in noninvasive prenatal testing for fetal aneuploidy from maternal plasma DNA samples. Prenat Diagn 2013;33:569-74.
    • (2013) Prenat Diagn , vol.33 , pp. 569-574
    • Futch, T.1    Spinosa, J.2    Bhatt, S.3
  • 25
    • 84878123682 scopus 로고    scopus 로고
    • Discordant results between fetal karyotyping and non-invasive prenatal testing by maternal plasma sequencing in a case of uniparental disomy 21 due to trisomic rescue
    • Pan M, Li FT, Li Y, et al. Discordant results between fetal karyotyping and non-invasive prenatal testing by maternal plasma sequencing in a case of uniparental disomy 21 due to trisomic rescue. Prenat Diagn 2013;33:1-4.
    • (2013) Prenat Diagn , vol.33 , pp. 1-4
    • Pan, M.1    Li, F.T.2    Li, Y.3
  • 26
    • 84878129532 scopus 로고    scopus 로고
    • Secondary findings from non-invasive prenatal testing from common fetal aneuploidies by whole genome sequencing as a clinical service
    • Lau TK, Jiang FM, Stevenson RJ, et al. Secondary findings from non-invasive prenatal testing from common fetal aneuploidies by whole genome sequencing as a clinical service. Prenat Diagn 2013;33:602-8.
    • (2013) Prenat Diagn , vol.33 , pp. 602-608
    • Lau, T.K.1    Jiang, F.M.2    Stevenson, R.J.3
  • 27
    • 84878153039 scopus 로고    scopus 로고
    • Cell-free fetal DNA sex determination identified a maternal SRY gene with a known X chromosome deletion
    • Searle CJ, Smith K, Daniels G, et al. Cell-free fetal DNA sex determination identified a maternal SRY gene with a known X chromosome deletion. Prenat Diagn 2013;33:612-3.
    • (2013) Prenat Diagn , vol.33 , pp. 612-613
    • Searle, C.J.1    Smith, K.2    Daniels, G.3
  • 28
    • 84878159751 scopus 로고    scopus 로고
    • Discordant noninvasive prenatal testing results in a patient subsequently diagnosed with metastatic disease
    • Osborne CM, Hardisty E, Devers P, et al. Discordant noninvasive prenatal testing results in a patient subsequently diagnosed with metastatic disease. Prenat Diagn 2013;33:609-11.
    • (2013) Prenat Diagn , vol.33 , pp. 609-611
    • Osborne, C.M.1    Hardisty, E.2    Devers, P.3
  • 29
    • 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;33:575-9.
    • (2013) Prenat Diagn , vol.33 , pp. 575-579
    • Nicolaides, K.H.1    Syngelaki, A.2    Gil, M.3
  • 30
    • 84878152406 scopus 로고    scopus 로고
    • Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma
    • Mazloom AR, Džakula Ž, Oeth P, et al. Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma. Prenat Diagn 2013;33:591-7.
    • (2013) Prenat Diagn , vol.33 , pp. 591-597
    • Mazloom, A.R.1    Džakula, Z.2    Oeth, P.3
  • 31
    • 84880039886 scopus 로고    scopus 로고
    • A robust second-generation genome-wide test for fetal aneuploidy based on shotgun sequencing cell-free DNA in maternal blood
    • DOI: 10.1002/pd.4130
    • Guex N, Iseli C, Syngelaki A, et al. A robust second-generation genome-wide test for fetal aneuploidy based on shotgun sequencing cell-free DNA in maternal blood. Prenat Diagn 2013, DOI: 10.1002/pd.4130
    • (2013) Prenat Diagn
    • Guex, N.1    Iseli, C.2    Syngelaki, A.3
  • 32
    • 84878130076 scopus 로고    scopus 로고
    • Diagnostic accuracy of random massively parallel sequencing for non-invasive prenatal detection of common autosomal aneuploidies: a collaborative study in Europe
    • in press.
    • Stumm M, Entezami M, Haug K, et al. Diagnostic accuracy of random massively parallel sequencing for non-invasive prenatal detection of common autosomal aneuploidies: a collaborative study in Europe. Prenat Diagn, in press.
    • Prenat Diagn
    • Stumm, M.1    Entezami, M.2    Haug, K.3
  • 33
    • 84878135436 scopus 로고    scopus 로고
    • A method for non-invasive detection of fetal large deletions/duplications by low coverage massively parallel sequencing
    • Chen S, Lau TK, Zhang C, et al. A method for non-invasive detection of fetal large deletions/duplications by low coverage massively parallel sequencing. Prenat Diagn 2013;33:584-90.
    • (2013) Prenat Diagn , vol.33 , pp. 584-590
    • Chen, S.1    Lau, T.K.2    Zhang, C.3
  • 34
    • 84880041572 scopus 로고    scopus 로고
    • Noninvasive twin zygosity assessment and aneuploidy detection by maternal plasma DNA sequencing
    • DOI: 10.1002/pd.4132
    • Leung TY, Qu JZZ, Liao GJW, et al. Noninvasive twin zygosity assessment and aneuploidy detection by maternal plasma DNA sequencing. Prenat Diagn 2013, DOI: 10.1002/pd.4132
    • (2013) Prenat Diagn
    • Leung, T.Y.1    Qu, J.Z.Z.2    Liao, G.J.W.3
  • 35
    • 84880035770 scopus 로고    scopus 로고
    • The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies
    • DOI: 10.1002/pd.4126
    • Canick JA, Palomaki GE, Kloza EM, et al. The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies. Prenat Diagn 2013, DOI: 10.1002/pd.4126
    • (2013) Prenat Diagn
    • Canick, J.A.1    Palomaki, G.E.2    Kloza, E.M.3
  • 36
    • 84880043573 scopus 로고    scopus 로고
    • Gestational age and maternal weight effects on fetal cell-free DNA in maternal plasma
    • DOI: 10.1002/pd.4119
    • Wang E, Batey A, Struble C, et al. Gestational age and maternal weight effects on fetal cell-free DNA in maternal plasma. Prenat Diagn 2013, DOI: 10.1002/pd.4119
    • (2013) Prenat Diagn
    • Wang, E.1    Batey, A.2    Struble, C.3
  • 37
    • 84880036656 scopus 로고    scopus 로고
    • RASSF1A in maternal plasma as a molecular marker of preeclampsia
    • DOI: 10.1002/pd.4093
    • Papantoniou N, Bagiokos V, Agiannitopoulos K, et al. RASSF1A in maternal plasma as a molecular marker of preeclampsia. Prenat Diagn 2013, DOI: 10.1002/pd.4093
    • (2013) Prenat Diagn
    • Papantoniou, N.1    Bagiokos, V.2    Agiannitopoulos, K.3
  • 38
    • 84878148957 scopus 로고    scopus 로고
    • The clinical implementation of non-invasive prenatal diagnosis for single gene disorders: challenges and progress made
    • Lench N, Barrett A, Fielding S, et al. The clinical implementation of non-invasive prenatal diagnosis for single gene disorders: challenges and progress made. Prenat Diagn 2013;33:555-62.
    • (2013) Prenat Diagn , vol.33 , pp. 555-562
    • Lench, N.1    Barrett, A.2    Fielding, S.3
  • 39
    • 84878144399 scopus 로고    scopus 로고
    • Noninvasive fetal genome sequencing: a primer
    • Snyder MW, Simmons LE, Kitzman JO, et al. Noninvasive fetal genome sequencing: a primer. Prenat Diagn 2013;33:547-54.
    • (2013) Prenat Diagn , vol.33 , pp. 547-554
    • Snyder, M.W.1    Simmons, L.E.2    Kitzman, J.O.3
  • 40
    • 79959349503 scopus 로고    scopus 로고
    • Organ targeted prenatal gene therapy - how far are we?
    • Mehta V, Abi Nader K, Waddington S, et al. Organ targeted prenatal gene therapy - how far are we? Prenatal Diagn 2011;31:720-734.
    • (2011) Prenatal Diagn , vol.31 , pp. 720-734
    • Mehta, V.1    Abi Nader, K.2    Waddington, S.3
  • 41
    • 84878121111 scopus 로고    scopus 로고
    • Noninvasive prenatal testing creates an opportunity for antental treatment of Down syndrome
    • Guedj F, Bianchi DW. Noninvasive prenatal testing creates an opportunity for antental treatment of Down syndrome. Prenat Diagn 2013;33:614-8.
    • (2013) Prenat Diagn , vol.33 , pp. 614-618
    • Guedj, F.1    Bianchi, D.W.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.