메뉴 건너뛰기




Volumn 2, Issue JUNE, 2012, Pages

Non-invasive prenatal diagnosis by massively parallel sequencing of maternal plasma DNA

Author keywords

Down syndrome; Foetal DNA in maternal plasma; Next generation sequencing; Plasma nucleic acids; Trisomy 21

Indexed keywords

DNA;

EID: 84864199013     PISSN: None     EISSN: 20462441     Source Type: Journal    
DOI: 10.1098/rsob.120086     Document Type: Article
Times cited : (30)

References (52)
  • 1
    • 23644441627 scopus 로고    scopus 로고
    • Invasive prenatal diagnostic procedures 2005
    • DOI 10.1053/j.semperi.2005.06.004, PII S0146000505000704, Prenatal Screening: Incorporating the First Trimester Screening
    • Evans MI, Wapner RJ. 2005 Invasive prenatal diagnostic procedures 2005. Semin. Perinatol. 29, 215-218. (doi:10.1053/j.semperi.2005.06.004) (Pubitemid 41133560)
    • (2005) Seminars in Perinatology , vol.29 , Issue.4 , pp. 215-218
    • Evans, M.I.1    Wapner, R.J.2
  • 6
    • 0029836445 scopus 로고    scopus 로고
    • Microsatellite alterations in serum DNA of head and neck cancer patients
    • DOI 10.1038/nm0996-1035
    • Nawroz H, Koch W, Anker P, Stroun M, Sidransky D. 1996 Microsatellite alterations in serum DNA of head and neck cancer patients. Nat. Med. 2, 1035-1037. (doi:10.1038/nm0996-1035) (Pubitemid 26306845)
    • (1996) Nature Medicine , vol.2 , Issue.9 , pp. 1035-1037
    • Nawroz, H.1    Koch, W.2    Anker, P.3    Stroun, M.4    Sidransky, D.5
  • 9
    • 54049132561 scopus 로고    scopus 로고
    • Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma
    • doi:10.1373/clinchem.2008.111385
    • Lun FMF, Chiu RWK, Chan KCA, Leung TY, Lau TK, Lo YMD. 2008 Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma. Clin. Chem. 54, 1664-1672. (doi:10.1373/clinchem.2008.111385)
    • (2008) Clin. Chem. , vol.54 , pp. 1664-1672
    • Lun, F.M.F.1    Chiu, R.W.K.2    Chan, K.C.A.3    Leung, T.Y.4    Lau, T.K.5    Lo, Y.M.D.6
  • 13
    • 80051564369 scopus 로고    scopus 로고
    • Noninvasive fetal sex determination using cellfree fetal DNA: A systematic review and metaanalysis
    • doi:10.1001/jama.2011.1114
    • Devaney SA, Palomaki GE, Scott JA, Bianchi DW. 2011 Noninvasive fetal sex determination using cellfree fetal DNA: a systematic review and metaanalysis. JAMA 306, 627-636. (doi:10.1001/jama. 2011.1114)
    • (2011) JAMA , vol.306 , pp. 627-636
    • Devaney, S.A.1    Palomaki, G.E.2    Scott, J.A.3    Bianchi, D.W.4
  • 15
    • 42249108710 scopus 로고    scopus 로고
    • Effect of high throughput RHD typing of fetal DNA in maternal plasma on use of anti-RhD immunoglobulin in RhD negative pregnant women: Prospective feasibility study
    • DOI 10.1136/bmj.39518.463206.25
    • Finning K, Martin P, Summers J, Massey E, Poole G, Daniels G. 2008 Effect of high throughput RHD typing of fetal DNA in maternal plasma on use of anti-RhD immunoglobulin in RhD negative pregnant women: prospective feasibility study. Br. Med. J. 336, 816-818. (doi:10.1136/bmj.39518. 463206.25) (Pubitemid 351548224)
    • (2008) BMJ , vol.336 , Issue.7648 , pp. 816-818
    • Finning, K.1    Martin, P.2    Summers, J.3    Massey, E.4    Poole, G.5    Daniels, G.6
  • 16
    • 0036140193 scopus 로고    scopus 로고
    • Differential DNA methylation between fetus and mother as a strategy for detecting fetal DNA in maternal plasma
    • Poon LLM, Leung TN, Lau TK, Chow KC, Lo YMD. 2002 Differential DNA methylation between fetus and mother as a strategy for detecting fetal DNA in maternal plasma. Clin. Chem. 48, 35-41. (Pubitemid 34038120)
    • (2002) Clinical Chemistry , vol.48 , Issue.1 , pp. 35-41
    • Poon, L.L.M.1    Leung, T.N.2    Lau, T.K.3    Chow, K.C.K.4    Lo, Y.M.D.5
  • 20
    • 33846903851 scopus 로고    scopus 로고
    • Plasma placental RNA allelic ratio permits noninvasive prenatal chromosomal aneuploidy detection
    • doi:10.1038/nm1530
    • Lo YMD et al. 2007 Plasma placental RNA allelic ratio permits noninvasive prenatal chromosomal aneuploidy detection. Nat. Med. 13, 218-223. (doi:10.1038/nm1530)
    • (2007) Nat. Med. , vol.13 , pp. 218-223
    • Lo, Y.M.D.1
  • 22
    • 2642540027 scopus 로고    scopus 로고
    • Size separation of circulatory DNA in maternal plasma permits ready detection of fetal DNA polymorphisms
    • DOI 10.1373/clinchem.2003.029835
    • Li Y, Zimmermann B, Rusterholz C, Kang A, Holzgreve W, Hahn S. 2004 Size separation of circulatory DNA in maternal plasma permits ready detection of fetal DNA polymorphisms. Clin. Chem. 50, 1002-1011. (doi:10.1373/ clinchem.2003.029835) (Pubitemid 38725787)
    • (2004) Clinical Chemistry , vol.50 , Issue.6 , pp. 1002-1011
    • Li, Y.1    Zimmermann, B.2    Rusterholz, C.3    Kang, A.4    Holzgreve, W.5    Hahn, S.6
  • 25
    • 14544285000 scopus 로고    scopus 로고
    • Lack of dramatic enrichment of fetal DNA in maternal plasma by formaldehyde treatment
    • DOI 10.1373/clinchem.2004.042168
    • Chung GT, Chiu RWK, Chan KCA, Lau TK, Leung TN, Lo YMD. 2005 Lack of dramatic enrichment of fetal DNA in maternal plasma by formaldehyde treatment. Clin. Chem. 51, 655-658. (doi:10. 1373/clinchem.2004.042168) (Pubitemid 40300249)
    • (2005) Clinical Chemistry , vol.51 , Issue.3 , pp. 655-658
    • Chung, G.T.Y.1    Chiu, R.W.K.2    Chan, K.C.A.3    Lau, T.K.4    Leung, T.N.5    Lo, Y.M.D.6
  • 26
    • 14544292428 scopus 로고    scopus 로고
    • Treatment of maternal blood samples with formaldehyde does not alter the proportion of circulatory fetal nucleic acids (DNA and mRNA) in maternal plasma
    • DOI 10.1373/clinchem.2004.042119
    • Chinnapapagari SK, Holzgreve W, Lapaire O, Zimmermann B, Hahn S. 2005 Treatment of maternal blood samples with formaldehyde does not alter the proportion of circulatory fetal nucleic acids (DNA and mRNA) in maternal plasma. Clin. Chem. 51, 652-655. (doi:10.1373/ clinchem.2004.042119) (Pubitemid 40300248)
    • (2005) Clinical Chemistry , vol.51 , Issue.3 , pp. 652-655
    • Chinnapapagari, S.K.R.1    Holzgreve, W.2    Lapaire, O.3    Zimmermann, B.4    Hahn, S.5
  • 28
    • 35348999450 scopus 로고    scopus 로고
    • Detection of aneuploidy with digital polymerase chain reaction
    • DOI 10.1021/ac0709394
    • Fan HC, Quake SR. 2007 Detection of aneuploidy with digital polymerase chain reaction. Anal. Chem. 79, 7576-7579. (doi:10.1021/ac0709394) (Pubitemid 47606128)
    • (2007) Analytical Chemistry , vol.79 , Issue.19 , pp. 7576-7579
    • Fan, H.C.1    Quake, S.R.2
  • 29
    • 37749031255 scopus 로고    scopus 로고
    • Next-generation sequencing transforms today's biology
    • doi:10.1038/nmeth1156
    • Schuster SC. 2008 Next-generation sequencing transforms today's biology. Nat. Meth. 5, 16-18. (doi:10.1038/nmeth1156)
    • (2008) Nat. Meth. , vol.5 , pp. 16-18
    • Schuster, S.C.1
  • 30
    • 58149490683 scopus 로고    scopus 로고
    • Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma
    • doi:10.1073/pnas.0810641105
    • Chiu RWK et al. 2008 Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Proc. Natl Acad. Sci. USA 105, 20 458-20 463. (doi:10.1073/pnas.0810641105)
    • (2008) Proc. Natl Acad. Sci. USA , vol.105 , pp. 20458-20463
    • Chiu, R.W.K.1
  • 31
    • 55849124028 scopus 로고    scopus 로고
    • Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood
    • doi:10.1073/pnas.0808319105
    • Fan HC, Blumenfeld YJ, Chitkara U, Hudgins L, Quake SR. 2008 Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc. Natl Acad. Sci. USA 105, 16 266-16 271. (doi:10.1073/pnas.0808319105)
    • (2008) Proc. Natl Acad. Sci. USA , vol.105 , pp. 16266-16271
    • Fan, H.C.1    Blumenfeld, Y.J.2    Chitkara, U.3    Hudgins, L.4    Quake, S.R.5
  • 32
    • 77649208031 scopus 로고    scopus 로고
    • Lo YMD 2010 Maternal plasma DNA analysis with massively parallel sequencing by ligation for noninvasive prenatal diagnosis of trisomy 21
    • doi:10.1373/clinchem.2009.136507
    • Chiu RWK, Sun H, Akolekar R, Clouser C, Lee C, McKernan K, Zhou D, Nicolaides KH, Lo YMD 2010 Maternal plasma DNA analysis with massively parallel sequencing by ligation for noninvasive prenatal diagnosis of trisomy 21. Clin. Chem. 56, 459-463. (doi:10.1373/clinchem.2009.136507)
    • Clin. Chem. , vol.56 , pp. 459-463
    • Chiu, R.W.K.1    Sun, H.2    Akolekar, R.3    Clouser, C.4    Lee, C.5    McKernan, K.6    Zhou, D.7    Nicolaides, K.H.8
  • 33
    • 79957753496 scopus 로고    scopus 로고
    • Lo YMD 2011 Noninvasive prenatal diagnosis of a case of Down syndrome due to robertsonian translocation by massively parallel sequencing of maternal plasma DNA
    • doi:10.1373/clinchem.2011.161844
    • Lun FMF, Jin YY, Sun H, Leung TY, Lau TK, Chiu RWK, Lo YMD 2011 Noninvasive prenatal diagnosis of a case of Down syndrome due to robertsonian translocation by massively parallel sequencing of maternal plasma DNA. Clin. Chem. 57, 917-919. (doi:10.1373/clinchem.2011.161844)
    • Clin. Chem. , vol.57 , pp. 917-919
    • Lun, F.M.F.1    Jin, Y.Y.2    Sun, H.3    Leung, T.Y.4    Lau, T.K.5    Rwk, C.6
  • 34
    • 78751683468 scopus 로고    scopus 로고
    • Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: Large scale validity study
    • doi:10.1136/bmj.c7401
    • Chiu RWK et al. 2011 Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. Br. Med. J. 342, c7401. (doi:10. 1136/bmj.c7401)
    • (2011) Br. Med. J. , vol.342
    • Chiu, R.W.K.1
  • 35
    • 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 et al. 2011 Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting. Am. J. Obstet. Gynecol. 204, 205 e1-e11.
    • (2011) Am. J. Obstet. Gynecol. , vol.204-205
    • Ehrich, M.1
  • 36
    • 80755172331 scopus 로고    scopus 로고
    • DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study
    • doi:10.1097/GIM.0b013e 3182368a0e
    • Palomaki GE et al. 2011 DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet. Med. 13, 913-920. (doi:10.1097/GIM.0b013e 3182368a0e)
    • (2011) Genet. Med. , vol.13 , pp. 913-920
    • Palomaki, G.E.1
  • 37
    • 84860213983 scopus 로고    scopus 로고
    • Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing
    • doi:10.1097/AOG.0b013e31824fb482
    • Bianchi DW, Platt LD, Goldberg JD, Abuhamad AZ, Sehnert AJ, Rava RP. 2012 Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet. Gynecol. 119, 890-901. (doi:10.1097/AOG.0b013e31824fb482)
    • (2012) Obstet. Gynecol. , vol.119 , pp. 890-901
    • Bianchi, D.W.1    Platt, L.D.2    Goldberg, J.D.3    Abuhamad, A.Z.4    Sehnert, A.J.5    Rava, R.P.6
  • 38
    • 79959937504 scopus 로고    scopus 로고
    • Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing
    • doi:10.1371/journal.pone.0021791
    • Chen EZ et al. 2011 Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing. PLoS ONE 6, e21791. (doi:10.1371/journal.pone.0021791)
    • (2011) PLoS ONE , vol.6
    • Chen, E.Z.1
  • 39
    • 79959759113 scopus 로고    scopus 로고
    • Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood
    • doi:10.1373/clinchem.2011.165910
    • Sehnert AJ, Rhees B, Comstock D, de Feo E, Heilek G, Burke J, Rava RP 2011 Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood. Clin. Chem. 57, 1042-1049. (doi:10.1373/clinchem.2011.165910)
    • (2011) Clin. Chem. , vol.57 , pp. 1042-1049
    • Sehnert, A.J.1    Rhees, B.2    Comstock, D.3    De Feo, E.4    Heilek, G.5    Burke, J.6    Rava, R.P.7
  • 40
    • 84859363202 scopus 로고    scopus 로고
    • Noninvasive prenatal diagnosis of common fetal chromosomal aneuploidies by maternal plasma DNA sequencing
    • In press, doi:10.3109/14767058.2011.635730
    • Lau TK et al. In press. Noninvasive prenatal diagnosis of common fetal chromosomal aneuploidies by maternal plasma DNA sequencing. J. Matern. Fetal Neonatal Med. (doi:10.3109/14767058.2011.635730)
    • J. Matern. Fetal Neonatal Med
    • Lau, T.K.1
  • 41
    • 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
    • doi:10.1038/gim.2011.73
    • Palomaki GE et al. 2012 DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genet. Med. 14, 296-305. (doi:10.1038/gim.2011.73)
    • (2012) Genet. Med. , vol.14 , pp. 296-305
    • Palomaki, G.E.1
  • 42
    • 84859301128 scopus 로고    scopus 로고
    • Single molecule sequencing of free DNA from maternal plasma for noninvasive trisomy 21 detection
    • doi:10.1373/clinchem.2011.174698
    • van den Oever JM et al. 2012 Single molecule sequencing of free DNA from maternal plasma for noninvasive trisomy 21 detection. Clin. Chem. 58, 699-706. (doi:10.1373/clinchem.2011. 174698)
    • (2012) Clin. Chem. , vol.58 , pp. 699-706
    • Van Den Oever, J.M.1
  • 43
    • 78650965964 scopus 로고    scopus 로고
    • Targeted massively parallel sequencing of maternal plasma DNA permits efficient and unbiased detection of fetal alleles
    • doi:10. 1373/clinchem.2010.154336
    • Liao GJ, Lun FMF, Zheng YWL, Chan KCA, Leung TY, Lau TK, Chiu RWK, Lo YMD. 2011 Targeted massively parallel sequencing of maternal plasma DNA permits efficient and unbiased detection of fetal alleles. Clin. Chem. 57, 92-101. (doi:10. 1373/clinchem.2010.154336)
    • (2011) Clin. Chem. , vol.57 , pp. 92-101
    • Liao, G.J.1    Lun, F.M.F.2    Zheng, Y.W.L.3    Chan, K.C.A.4    Leung, T.Y.5    Lau, T.K.6    Chiu, R.W.K.7    Lo, Y.M.D.8
  • 44
    • 84857502701 scopus 로고    scopus 로고
    • Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy
    • doi:10.1002/pd.2922
    • Sparks AB et al. 2012 Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy. Prenat. Diagn. 32, 3-9. (doi:10.1002/pd.2922)
    • (2012) Prenat. Diagn. , vol.32 , pp. 3-9
    • Sparks, A.B.1
  • 45
    • 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
    • doi:10.1016/j.ajog.2012.01.030
    • Sparks AB, Struble CA, Wang ET, Song K, Oliphant A. 2012 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. 206, 319.e1-319.e9. (doi:10.1016/j.ajog.2012.01.030)
    • (2012) Am. J. Obstet. Gynecol. , vol.206
    • Sparks, A.B.1    Struble, C.A.2    Wang, E.T.3    Song, K.4    Oliphant, A.5
  • 46
    • 84859320067 scopus 로고    scopus 로고
    • Chromosome-selective sequencing of maternal plasma cell-free DNA for first-trimester detection of trisomy 21 and trisomy 18
    • doi:10.1016/j.ajog.2012.01.029
    • Ashoor G, Syngelaki A, Wagner M, Birdir C, Nicolaides KH. 2012 Chromosome-selective sequencing of maternal plasma cell-free DNA for first-trimester detection of trisomy 21 and trisomy 18. Am. J. Obstet. Gynecol. 206, 322.e1-322.e5. (doi:10.1016/j.ajog.2012.01.029)
    • (2012) Am. J. Obstet. Gynecol. , vol.206
    • Ashoor, G.1    Syngelaki, A.2    Wagner, M.3    Birdir, C.4    Nicolaides, K.H.5
  • 47
    • 58149401202 scopus 로고    scopus 로고
    • Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma
    • doi:10.1073/pnas.0810373105
    • Lun FMF et al. 2008 Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma. Proc. Natl Acad. Sci. USA 105, 19 920-19 925. (doi:10.1073/pnas. 0810373105)
    • (2008) Proc. Natl Acad. Sci. USA , vol.105 , pp. 19920-19925
    • Lun, F.M.F.1
  • 48
    • 79953703694 scopus 로고    scopus 로고
    • Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA
    • doi:10.1182/blood-2010-10-310789
    • Tsui NB et al. 2011 Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA. Blood 117, 3684-3691. (doi:10.1182/blood-2010-10-310789)
    • (2011) Blood , vol.117 , pp. 3684-3691
    • Tsui, N.B.1
  • 49
    • 78650207098 scopus 로고    scopus 로고
    • Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus
    • doi:10.1126/scitranslmed.3001720
    • Lo YMD et al. 2010 Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus. Sci. Transl. Med. 2, 61ra91. (doi:10.1126/scitranslmed.3001720)
    • (2010) Sci. Transl. Med. , vol.2
    • Lo, Y.M.D.1
  • 50
    • 78751655936 scopus 로고    scopus 로고
    • Get ready for the flood of fetal gene screening
    • doi:10.1038/469289a
    • Greely HT. 2011 Get ready for the flood of fetal gene screening. Nature 469, 289-291. (doi:10.1038/469289a)
    • (2011) Nature , vol.469 , pp. 289-291
    • Greely, H.T.1
  • 52
    • 84859350834 scopus 로고    scopus 로고
    • Noninvasive prenatal testing for aneuploidy-ready for prime time?
    • doi:10.1016/j.ajog.2012.02.021
    • Chitty LS, Hill M, White H, Wright D, Morris S. 2012 Noninvasive prenatal testing for aneuploidy-ready for prime time? Am. J. Obstet. Gynecol. 206, 269-275. (doi:10.1016/j.ajog.2012.02.021)
    • (2012) Am. J. Obstet. Gynecol. , vol.206 , pp. 269-275
    • Chitty, L.S.1    Hill, M.2    White, H.3    Wright, D.4    Morris, S.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.