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Volumn 4, Issue 5, 2012, Pages

Non-invasive prenatal diagnosis of aneuploidies: New technologies and clinical applications

Author keywords

Fetal DNA; Fetal specific methylation; Next generation sequencing; NIPD clinical implementation; Non invasive prenatal diagnosis

Indexed keywords

BISULFITE; FORMALDEHYDE; MESSENGER RNA; RESTRICTION ENDONUCLEASE;

EID: 84861357367     PISSN: None     EISSN: 1756994X     Source Type: Journal    
DOI: 10.1186/gm345     Document Type: Review
Times cited : (34)

References (119)
  • 1
    • 0141613852 scopus 로고    scopus 로고
    • Rapid and simple prenatal diagnosis of common chromosome disorders: advantages and disadvantages of the molecular methods FISH and QF-PCR.
    • 10.1530/rep.0.1260279, 12968936
    • Hulten MA, Dhanjal S, Pertl B. Rapid and simple prenatal diagnosis of common chromosome disorders: advantages and disadvantages of the molecular methods FISH and QF-PCR. Reproduction 2003, 126:279-97. 10.1530/rep.0.1260279, 12968936.
    • (2003) Reproduction , vol.126 , pp. 279-297
    • Hulten, M.A.1    Dhanjal, S.2    Pertl, B.3
  • 3
    • 0027997680 scopus 로고
    • Rapid prenatal diagnosis of aneuploidy from uncultured amniotic fluid cells using five-colour fluorescence in situ hybridization.
    • 10.1002/pd.1970141109, 7877954
    • Divane A, Carter NP, Spathas DH, Ferguson-Smith MA. Rapid prenatal diagnosis of aneuploidy from uncultured amniotic fluid cells using five-colour fluorescence in situ hybridization. Prenat Diagn 1994, 14:1061-1069. 10.1002/pd.1970141109, 7877954.
    • (1994) Prenat Diagn , vol.14 , pp. 1061-1069
    • Divane, A.1    Carter, N.P.2    Spathas, D.H.3    Ferguson-Smith, M.A.4
  • 4
    • 67149115401 scopus 로고    scopus 로고
    • Clinical practice. Prenatal screening for aneuploidy.
    • 10.1056/NEJMcp0900134, 19516035
    • Driscoll DA, Gross S. Clinical practice. Prenatal screening for aneuploidy. N Engl J Med 2009, 360:2556-2562. 10.1056/NEJMcp0900134, 19516035.
    • (2009) N Engl J Med , vol.360 , pp. 2556-2562
    • Driscoll, D.A.1    Gross, S.2
  • 6
    • 77958135826 scopus 로고    scopus 로고
    • Chromosome mutation II: changes in chromosome number.
    • New York: WH Freeman and Company, Griffith AJF, Miller JH, Suzuki DT, Lewontin RC, Gelbart WM, 7
    • Griffiths AJF, Jeffrey H, Suzuki DT, Lewontin RC, Gelbart WM. Chromosome mutation II: changes in chromosome number. An Introduction to Genetic Analysis 2000, New York: WH Freeman and Company, Griffith AJF, Miller JH, Suzuki DT, Lewontin RC, Gelbart WM, 7.
    • (2000) An Introduction to Genetic Analysis
    • Griffiths, A.J.F.1    Jeffrey, H.2    Suzuki, D.T.3    Lewontin, R.C.4    Gelbart, W.M.5
  • 7
    • 0014432056 scopus 로고
    • Prenatal diagnosis of Down's syndrome.
    • Valenti C, Schutta EJ, Kehaty T. Prenatal diagnosis of Down's syndrome. Lancet 1968, 2:220.
    • (1968) Lancet , vol.2 , pp. 220
    • Valenti, C.1    Schutta, E.J.2    Kehaty, T.3
  • 8
    • 33644906383 scopus 로고    scopus 로고
    • Invasive prenatal diagnostic techniques.
    • 10.1053/j.semperi.2006.01.003, 16533654
    • Wapner RJ. Invasive prenatal diagnostic techniques. Semin Perinatol 2005, 29:401-404. 10.1053/j.semperi.2006.01.003, 16533654.
    • (2005) Semin Perinatol , vol.29 , pp. 401-404
    • Wapner, R.J.1
  • 9
    • 34249701865 scopus 로고    scopus 로고
    • What potent blood: non-invasive prenatal genetic diagnosis and the transformation of modern prenatal care.
    • Chachkin CJ. What potent blood: non-invasive prenatal genetic diagnosis and the transformation of modern prenatal care. Am J Law Med 2007, 33:9-53.
    • (2007) Am J Law Med , vol.33 , pp. 9-53
    • Chachkin, C.J.1
  • 10
    • 33748355113 scopus 로고    scopus 로고
    • Chorionic villus sampling compared with amniocentesis and the difference in the rate of pregnancy loss.
    • 10.1097/01.AOG.0000232512.46869.fc, 16946222
    • Caughey AB, Hopkins LM, Norton ME. Chorionic villus sampling compared with amniocentesis and the difference in the rate of pregnancy loss. Obstet Gynecol 2006, 108:612-616. 10.1097/01.AOG.0000232512.46869.fc, 16946222.
    • (2006) Obstet Gynecol , vol.108 , pp. 612-616
    • Caughey, A.B.1    Hopkins, L.M.2    Norton, M.E.3
  • 11
    • 34548405957 scopus 로고    scopus 로고
    • Procedure-related complications of amniocentesis and chorionic villous sampling: a systematic review.
    • 10.1097/01.AOG.0000278820.54029.e3, 17766619
    • Mujezinovic F, Alfirevic Z. Procedure-related complications of amniocentesis and chorionic villous sampling: a systematic review. Obstet Gynecol 2007, 110:687-694. 10.1097/01.AOG.0000278820.54029.e3, 17766619.
    • (2007) Obstet Gynecol , vol.110 , pp. 687-694
    • Mujezinovic, F.1    Alfirevic, Z.2
  • 13
    • 25444479790 scopus 로고    scopus 로고
    • Noninvasive prenatal diagnosis of fetal Rhesus D: ready for Prime(r) Time.
    • 10.1097/01.AOG.0000179477.59385.93, 16199645
    • Bianchi DW, Avent ND, Costa JM, van der Schoot CE. Noninvasive prenatal diagnosis of fetal Rhesus D: ready for Prime(r) Time. Obstet Gynecol 2005, 106:841-844. 10.1097/01.AOG.0000179477.59385.93, 16199645.
    • (2005) Obstet Gynecol , vol.106 , pp. 841-844
    • Bianchi, D.W.1    Avent, N.D.2    Costa, J.M.3    van der Schoot, C.E.4
  • 16
    • 54049132561 scopus 로고    scopus 로고
    • Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma.
    • 10.1373/clinchem.2008.111385, 18703764
    • Lun FM, Chiu RW, Allen Chan KC, Yeung Leung T, Kin Lau T, Dennis Lo YM. Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma. Clin Chem 2008, 54:1664-1672. 10.1373/clinchem.2008.111385, 18703764.
    • (2008) Clin Chem , vol.54 , pp. 1664-1672
    • Lun, F.M.1    Chiu, R.W.2    Allen Chan, K.C.3    Yeung Leung, T.4    Kin Lau, T.5    Dennis Lo, Y.M.6
  • 18
    • 0036140193 scopus 로고    scopus 로고
    • Differential DNA methylation between fetus and mother as a strategy for detecting fetal DNA in maternal plasma.
    • Poon LL, Leung TN, Lau TK, Chow KC, Lo YM. Differential DNA methylation between fetus and mother as a strategy for detecting fetal DNA in maternal plasma. Clin Chem 2002, 48:35-41.
    • (2002) Clin Chem , vol.48 , pp. 35-41
    • Poon, L.L.1    Leung, T.N.2    Lau, T.K.3    Chow, K.C.4    Lo, Y.M.5
  • 20
    • 55849124028 scopus 로고    scopus 로고
    • Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood.
    • 10.1073/pnas.0808319105, 2562413, 18838674
    • 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 USA 2008, 105:16266-16271. 10.1073/pnas.0808319105, 2562413, 18838674.
    • (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
  • 21
  • 22
    • 34547962325 scopus 로고    scopus 로고
    • Candidate epigenetic biomarkers for non-invasive prenatal diagnosis of Down syndrome.
    • 10.1016/S1472-6483(10)60713-4, 17697502
    • Old RW, Crea F, Puszyk W, Hulten MA. Candidate epigenetic biomarkers for non-invasive prenatal diagnosis of Down syndrome. Reprod Biomed Online 2007, 15:227-235. 10.1016/S1472-6483(10)60713-4, 17697502.
    • (2007) Reprod Biomed Online , vol.15 , pp. 227-235
    • Old, R.W.1    Crea, F.2    Puszyk, W.3    Hulten, M.A.4
  • 23
    • 40449109999 scopus 로고    scopus 로고
    • Systematic search for placental DNA-methylation markers on chromosome 21: toward a maternal plasma-based epigenetic test for fetal trisomy 21.
    • 10.1373/clinchem.2007.098731, 18202156
    • Chim SS, Jin S, Lee TY, Lun FM, Lee WS, Chan LY, Jin Y, Yang N, Tong YK, Leung TY, Lau TK, Ding C, Chiu RW, Lo YM. Systematic search for placental DNA-methylation markers on chromosome 21: toward a maternal plasma-based epigenetic test for fetal trisomy 21. Clin Chem 2008, 54:500-511. 10.1373/clinchem.2007.098731, 18202156.
    • (2008) Clin Chem , vol.54 , pp. 500-511
    • Chim, S.S.1    Jin, S.2    Lee, T.Y.3    Lun, F.M.4    Lee, W.S.5    Chan, L.Y.6    Jin, Y.7    Yang, N.8    Tong, Y.K.9    Leung, T.Y.10    Lau, T.K.11    Ding, C.12    Chiu, R.W.13    Lo, Y.M.14
  • 25
    • 39149093958 scopus 로고    scopus 로고
    • Post-genomics studies and their application to non-invasive prenatal diagnosis.
    • 10.1016/j.siny.2007.12.011, 18249591
    • Avent ND, Plummer ZE, Madgett TE, Maddocks DG, Soothill PW. Post-genomics studies and their application to non-invasive prenatal diagnosis. Semin Fetal Neonatal Med 2008, 13:91-98. 10.1016/j.siny.2007.12.011, 18249591.
    • (2008) Semin Fetal Neonatal Med , vol.13 , pp. 91-98
    • Avent, N.D.1    Plummer, Z.E.2    Madgett, T.E.3    Maddocks, D.G.4    Soothill, P.W.5
  • 27
    • 0034779870 scopus 로고    scopus 로고
    • Inconsistency of fetal trophoblast cells in first trimester maternal peripheral blood prevents non-invasive fetal testing using this cell target.
    • 10.1053/plac.2001.0704, 11597190
    • Schueler PA, Yamanishi DT, Pearson J, Lee Y, Wu X, Hashima S, Madlansacay MR, Cain CA, Collarini EJ, Foltz L, Mahoney W. Inconsistency of fetal trophoblast cells in first trimester maternal peripheral blood prevents non-invasive fetal testing using this cell target. Placenta 2001, 22:702-715. 10.1053/plac.2001.0704, 11597190.
    • (2001) Placenta , vol.22 , pp. 702-715
    • Schueler, P.A.1    Yamanishi, D.T.2    Pearson, J.3    Lee, Y.4    Wu, X.5    Hashima, S.6    Madlansacay, M.R.7    Cain, C.A.8    Collarini, E.J.9    Foltz, L.10    Mahoney, W.11
  • 28
    • 0017352650 scopus 로고
    • [Post-partum survival of fetal lymphocytes in the maternal blood].
    • Ciaranfi A, Curchod A, Odartchenko N. [Post-partum survival of fetal lymphocytes in the maternal blood]. Schweiz Med Wochenschr 1977, 107:134-138.
    • (1977) Schweiz Med Wochenschr , vol.107 , pp. 134-138
    • Ciaranfi, A.1    Curchod, A.2    Odartchenko, N.3
  • 29
    • 0014054213 scopus 로고
    • Life-span of the fetal red blood cell.
    • 10.1016/S0022-3476(67)80410-4, 5334979
    • Pearson HA. Life-span of the fetal red blood cell. J Pediatr 1967, 70:166-171. 10.1016/S0022-3476(67)80410-4, 5334979.
    • (1967) J Pediatr , vol.70 , pp. 166-171
    • Pearson, H.A.1
  • 30
    • 0025364769 scopus 로고
    • Isolation of fetal DNA from nucleated erythrocytes in maternal blood.
    • 10.1073/pnas.87.9.3279, 53883, 2333281
    • Bianchi DW, Flint AF, Pizzimenti MF, Knoll JH, Latt SA. Isolation of fetal DNA from nucleated erythrocytes in maternal blood. Proc Natl Acad Sci USA 1990, 87:3279-3283. 10.1073/pnas.87.9.3279, 53883, 2333281.
    • (1990) Proc Natl Acad Sci USA , vol.87 , pp. 3279-3283
    • Bianchi, D.W.1    Flint, A.F.2    Pizzimenti, M.F.3    Knoll, J.H.4    Latt, S.A.5
  • 31
    • 0030798949 scopus 로고    scopus 로고
    • The proportion of fetal nucleated red blood cells in maternal blood: estimation by FACS analysis.
    • 10.1002/(SICI)1097-0223(199708)17:8<743::AID-PD144>3.0.CO;2-3, 9267898
    • Sohda S, Arinami T, Hamada H, Nakauchi H, Hamaguchi H, Kubo T. The proportion of fetal nucleated red blood cells in maternal blood: estimation by FACS analysis. Prenat Diagn 1997, 17:743-752. 10.1002/(SICI)1097-0223(199708)17:8<743::AID-PD144>3.0.CO;2-3, 9267898.
    • (1997) Prenat Diagn , vol.17 , pp. 743-752
    • Sohda, S.1    Arinami, T.2    Hamada, H.3    Nakauchi, H.4    Hamaguchi, H.5    Kubo, T.6
  • 32
    • 0032943479 scopus 로고    scopus 로고
    • The use of in vitro expanded erythroid cells in a model system for the isolation of fetal cells from maternal blood.
    • 10.1002/(SICI)1097-0223(199904)19:4<323::AID-PD534>3.0.CO;2-A, 10327136
    • Jansen MW, von Lindern M, Beug H, Brandenburg H, Wildschut HI, Wladimiroff JW, In 't Veld PA. The use of in vitro expanded erythroid cells in a model system for the isolation of fetal cells from maternal blood. Prenat Diagn 1999, 19:323-329. 10.1002/(SICI)1097-0223(199904)19:4<323::AID-PD534>3.0.CO;2-A, 10327136.
    • (1999) Prenat Diagn , vol.19 , pp. 323-329
    • Jansen, M.W.1    von Lindern, M.2    Beug, H.3    Brandenburg, H.4    Wildschut, H.I.5    Wladimiroff, J.W.6    In 't Veld, P.A.7
  • 33
    • 0034864725 scopus 로고    scopus 로고
    • Quantification of all fetal nucleated cells in maternal blood between the 18th and 22nd weeks of pregnancy using molecular cytogenetic techniques.
    • Krabchi K, Gros-Louis F, Yan J, Bronsard M, Masse J, Forest JC, Drouin R. Quantification of all fetal nucleated cells in maternal blood between the 18th and 22nd weeks of pregnancy using molecular cytogenetic techniques. Clin Genet 2001, 60:145-150.
    • (2001) Clin Genet , vol.60 , pp. 145-150
    • Krabchi, K.1    Gros-Louis, F.2    Yan, J.3    Bronsard, M.4    Masse, J.5    Forest, J.C.6    Drouin, R.7
  • 34
    • 0033006331 scopus 로고    scopus 로고
    • A comparison of different density gradients and antibodies for enrichment of fetal erythroblasts by MACS.
    • 10.1002/(SICI)1097-0223(199906)19:6<521::AID-PD578>3.0.CO;2-N, 10416966
    • Troeger C, Holzgreve W, Hahn S. A comparison of different density gradients and antibodies for enrichment of fetal erythroblasts by MACS. Prenat Diagn 1999, 19:521-526. 10.1002/(SICI)1097-0223(199906)19:6<521::AID-PD578>3.0.CO;2-N, 10416966.
    • (1999) Prenat Diagn , vol.19 , pp. 521-526
    • Troeger, C.1    Holzgreve, W.2    Hahn, S.3
  • 35
    • 0032242849 scopus 로고    scopus 로고
    • Allele drop-out can occur in alleles differing by a single nucleotide and is not alleviated by preamplification or minor template increments.
    • 10.1089/gte.1998.2.351, 10464616
    • Hahn S, Garvin AM, Di Naro E, Holzgreve W. Allele drop-out can occur in alleles differing by a single nucleotide and is not alleviated by preamplification or minor template increments. Genet Test 1998, 2:351-355. 10.1089/gte.1998.2.351, 10464616.
    • (1998) Genet Test , vol.2 , pp. 351-355
    • Hahn, S.1    Garvin, A.M.2    Di Naro, E.3    Holzgreve, W.4
  • 36
    • 0033659577 scopus 로고    scopus 로고
    • Apoptosis in fetal nucleated erythrocytes circulating in maternal blood.
    • 10.1002/1097-0223(200011)20:11<886::AID-PD942>3.0.CO;2-4, 11113889
    • Sekizawa A, Samura O, Zhen DK, Falco V, Farina A, Bianchi DW. Apoptosis in fetal nucleated erythrocytes circulating in maternal blood. Prenat Diagn 2000, 20:886-889. 10.1002/1097-0223(200011)20:11<886::AID-PD942>3.0.CO;2-4, 11113889.
    • (2000) Prenat Diagn , vol.20 , pp. 886-889
    • Sekizawa, A.1    Samura, O.2    Zhen, D.K.3    Falco, V.4    Farina, A.5    Bianchi, D.W.6
  • 37
    • 38949184249 scopus 로고    scopus 로고
    • Recent progress in non-invasive prenatal diagnosis.
    • 10.1016/j.siny.2007.11.001, 18207470
    • Hahn S, Zhong XY, Holzgreve W. Recent progress in non-invasive prenatal diagnosis. Semin Fetal Neonatal Med 2008, 13:57-62. 10.1016/j.siny.2007.11.001, 18207470.
    • (2008) Semin Fetal Neonatal Med , vol.13 , pp. 57-62
    • Hahn, S.1    Zhong, X.Y.2    Holzgreve, W.3
  • 38
    • 0035061506 scopus 로고    scopus 로고
    • Optimization of nucleated red blood cell (NRBC) recovery from maternal blood collected using both layers of a double density gradient.
    • 10.1002/1097-0223(200103)21:3<187::AID-PD32>3.0.CO;2-R, 11260605
    • Prieto B, Alonso R, Paz A, Candenas M, Venta R, Ladenson JH, Alvarez FV. Optimization of nucleated red blood cell (NRBC) recovery from maternal blood collected using both layers of a double density gradient. Prenat Diagn 2001, 21:187-193. 10.1002/1097-0223(200103)21:3<187::AID-PD32>3.0.CO;2-R, 11260605.
    • (2001) Prenat Diagn , vol.21 , pp. 187-193
    • Prieto, B.1    Alonso, R.2    Paz, A.3    Candenas, M.4    Venta, R.5    Ladenson, J.H.6    Alvarez, F.V.7
  • 41
    • 0028672513 scopus 로고
    • Enrichment of fetal cells from maternal blood by high gradient magnetic cell sorting (double MACS) for PCR-based genetic analysis.
    • 10.1002/pd.1970141206, 7534927
    • Busch J, Huber P, Pfluger E, Miltenyi S, Holtz J, Radbruch A. Enrichment of fetal cells from maternal blood by high gradient magnetic cell sorting (double MACS) for PCR-based genetic analysis. Prenat Diagn 1994, 14:1129-1140. 10.1002/pd.1970141206, 7534927.
    • (1994) Prenat Diagn , vol.14 , pp. 1129-1140
    • Busch, J.1    Huber, P.2    Pfluger, E.3    Miltenyi, S.4    Holtz, J.5    Radbruch, A.6
  • 43
    • 0027973465 scopus 로고
    • Simple and fast "double-MACS" sorting of fetal erythroblasts from maternal blood for PCR-based paternity analysis.
    • 10.1111/j.1749-6632.1994.tb55760.x, 7944109
    • Busch J, Huber P, Holtz J, Pfluger E, Radbruch A. Simple and fast "double-MACS" sorting of fetal erythroblasts from maternal blood for PCR-based paternity analysis. Ann N Y Acad Sci 1994, 731:144-146. 10.1111/j.1749-6632.1994.tb55760.x, 7944109.
    • (1994) Ann N Y Acad Sci , vol.731 , pp. 144-146
    • Busch, J.1    Huber, P.2    Holtz, J.3    Pfluger, E.4    Radbruch, A.5
  • 45
    • 0030776456 scopus 로고    scopus 로고
    • PCR quantitation of fetal cells in maternal blood in normal and aneuploid pregnancies.
    • 10.1086/514885, 1715976, 9382092
    • Bianchi DW, Williams JM, Sullivan LM, Hanson FW, Klinger KW, Shuber AP. PCR quantitation of fetal cells in maternal blood in normal and aneuploid pregnancies. Am J Hum Genet 1997, 61:822-829. 10.1086/514885, 1715976, 9382092.
    • (1997) Am J Hum Genet , vol.61 , pp. 822-829
    • Bianchi, D.W.1    Williams, J.M.2    Sullivan, L.M.3    Hanson, F.W.4    Klinger, K.W.5    Shuber, A.P.6
  • 46
    • 65849518768 scopus 로고    scopus 로고
    • Detection of circulating fetal nucleic acids: a review of methods and applications.
    • 10.1136/jcp.2007.048470, 19329710
    • Hung EC, Chiu RW, Lo YM. Detection of circulating fetal nucleic acids: a review of methods and applications. J Clin Pathol 2009, 62:308-313. 10.1136/jcp.2007.048470, 19329710.
    • (2009) J Clin Pathol , vol.62 , pp. 308-313
    • Hung, E.C.1    Chiu, R.W.2    Lo, Y.M.3
  • 47
    • 58049202879 scopus 로고    scopus 로고
    • The use of cell-free fetal nucleic acids in maternal blood for non-invasive prenatal diagnosis.
    • Wright CF, Burton H. The use of cell-free fetal nucleic acids in maternal blood for non-invasive prenatal diagnosis. Hum Reprod Update 2009, 15:139-151.
    • (2009) Hum Reprod Update , vol.15 , pp. 139-151
    • Wright, C.F.1    Burton, H.2
  • 48
    • 0036864219 scopus 로고    scopus 로고
    • Cell-free fetal DNA and intact fetal cells in maternal blood circulation: implications for first and second trimester non-invasive prenatal diagnosis.
    • 10.1093/humupd/8.6.493, 12498419
    • Bischoff FZ, Sinacori MK, Dang DD, Marquez-Do D, Horne C, Lewis DE, Simpson JL. Cell-free fetal DNA and intact fetal cells in maternal blood circulation: implications for first and second trimester non-invasive prenatal diagnosis. Hum Reprod Update 2002, 8:493-500. 10.1093/humupd/8.6.493, 12498419.
    • (2002) Hum Reprod Update , vol.8 , pp. 493-500
    • Bischoff, F.Z.1    Sinacori, M.K.2    Dang, D.D.3    Marquez-Do, D.4    Horne, C.5    Lewis, D.E.6    Simpson, J.L.7
  • 49
    • 0027209837 scopus 로고
    • Detection of trisomy 18 and Y-derived sequences in fetal nucleated cells obtained by transcervical flushing.
    • 10.1016/0140-6736(93)92816-C, 8101904
    • Adinolfi M, Davies A, Sharif S, Soothill P, Rodeck C. Detection of trisomy 18 and Y-derived sequences in fetal nucleated cells obtained by transcervical flushing. Lancet 1993, 342:403-404. 10.1016/0140-6736(93)92816-C, 8101904.
    • (1993) Lancet , vol.342 , pp. 403-404
    • Adinolfi, M.1    Davies, A.2    Sharif, S.3    Soothill, P.4    Rodeck, C.5
  • 50
    • 0030848299 scopus 로고    scopus 로고
    • Evaluation of trophoblast HLA-G antigen with a specific monoclonal antibody.
    • 10.1111/j.1399-0039.1997.tb02852.x, 9271823
    • Loke YW, King A, Burrows T, Gardner L, Bowen M, Hiby S, Howlett S, Holmes N, Jacobs D. Evaluation of trophoblast HLA-G antigen with a specific monoclonal antibody. Tissue Antigens 1997, 50:135-146. 10.1111/j.1399-0039.1997.tb02852.x, 9271823.
    • (1997) Tissue Antigens , vol.50 , pp. 135-146
    • Loke, Y.W.1    King, A.2    Burrows, T.3    Gardner, L.4    Bowen, M.5    Hiby, S.6    Howlett, S.7    Holmes, N.8    Jacobs, D.9
  • 51
    • 0037238946 scopus 로고    scopus 로고
    • HLA-G positive trophoblastic cells in transcervical samples and their isolation and analysis by laser microdissection and QF-PCR.
    • 10.1002/pd.511, 12533810
    • Bulmer JN, Cioni R, Bussani C, Cirigliano V, Sole F, Costa C, Garcia P, Adinolfi M. HLA-G positive trophoblastic cells in transcervical samples and their isolation and analysis by laser microdissection and QF-PCR. Prenat Diagn 2003, 23:34-39. 10.1002/pd.511, 12533810.
    • (2003) Prenat Diagn , vol.23 , pp. 34-39
    • Bulmer, J.N.1    Cioni, R.2    Bussani, C.3    Cirigliano, V.4    Sole, F.5    Costa, C.6    Garcia, P.7    Adinolfi, M.8
  • 52
    • 77954032491 scopus 로고    scopus 로고
    • Prenatal diagnosis of trisomy 21 through detection of trophoblasts in cervical smears.
    • 10.1016/j.earlhumdev.2010.04.005, 20471760
    • Sifakis S, Ghatpande S, Seppo A, Kilpatrick MW, Tafas T, Tsipouras P, Fejgin M, Amiel A. Prenatal diagnosis of trisomy 21 through detection of trophoblasts in cervical smears. Early Hum Dev 2010, 86:311-313. 10.1016/j.earlhumdev.2010.04.005, 20471760.
    • (2010) Early Hum Dev , vol.86 , pp. 311-313
    • Sifakis, S.1    Ghatpande, S.2    Seppo, A.3    Kilpatrick, M.W.4    Tafas, T.5    Tsipouras, P.6    Fejgin, M.7    Amiel, A.8
  • 53
    • 0000953303 scopus 로고
    • Les acides nucléiques du sanguine chez l'homme.
    • Mandel P, Métals P. Les acides nucléiques du sanguine chez l'homme. CR Acad Sci Paris 1948, 142:241-243.
    • (1948) CR Acad Sci Paris , vol.142 , pp. 241-243
    • Mandel, P.1    Métals, P.2
  • 55
    • 12944331281 scopus 로고    scopus 로고
    • Accurate and robust quantification of circulating fetal and total DNA in maternal plasma from 5 to 41 weeks of gestation.
    • 10.1373/clinchem.2004.042713, 15608152
    • Birch L, English CA, O'Donoghue K, Barigye O, Fisk NM, Keer JT. Accurate and robust quantification of circulating fetal and total DNA in maternal plasma from 5 to 41 weeks of gestation. Clin Chem 2005, 51:312-320. 10.1373/clinchem.2004.042713, 15608152.
    • (2005) Clin Chem , vol.51 , pp. 312-320
    • Birch, L.1    English, C.A.2    O'Donoghue, K.3    Barigye, O.4    Fisk, N.M.5    Keer, J.T.6
  • 56
    • 0036461167 scopus 로고    scopus 로고
    • Fetal gender determination in early pregnancy through qualitative and quantitative analysis of fetal DNA in maternal serum.
    • 10.1007/s00439-001-0649-3, 11810300
    • Honda H, Miharu N, Ohashi Y, Samura O, Kinutani M, Hara T, Ohama K. Fetal gender determination in early pregnancy through qualitative and quantitative analysis of fetal DNA in maternal serum. Hum Genet 2002, 110:75-79. 10.1007/s00439-001-0649-3, 11810300.
    • (2002) Hum Genet , vol.110 , pp. 75-79
    • Honda, H.1    Miharu, N.2    Ohashi, Y.3    Samura, O.4    Kinutani, M.5    Hara, T.6    Ohama, K.7
  • 57
    • 52249122641 scopus 로고    scopus 로고
    • Arrayed primer extension for the noninvasive prenatal diagnosis of beta-thalassemia based on detection of single nucleotide polymorphisms.
    • 10.1196/annals.1448.029, 18837964
    • Papasavva T, Kalikas I, Kyrri A, Kleanthous M. Arrayed primer extension for the noninvasive prenatal diagnosis of beta-thalassemia based on detection of single nucleotide polymorphisms. Ann N Y Acad Sci 2008, 1137:302-308. 10.1196/annals.1448.029, 18837964.
    • (2008) Ann N Y Acad Sci , vol.1137 , pp. 302-308
    • Papasavva, T.1    Kalikas, I.2    Kyrri, A.3    Kleanthous, M.4
  • 59
    • 0037903707 scopus 로고    scopus 로고
    • Prenatal detection of fetal hemoglobin E gene from maternal plasma.
    • 10.1002/pd.607, 12749037
    • Fucharoen G, Tungwiwat W, Ratanasiri T, Sanchaisuriya K, Fucharoen S. Prenatal detection of fetal hemoglobin E gene from maternal plasma. Prenat Diagn 2003, 23:393-396. 10.1002/pd.607, 12749037.
    • (2003) Prenat Diagn , vol.23 , pp. 393-396
    • Fucharoen, G.1    Tungwiwat, W.2    Ratanasiri, T.3    Sanchaisuriya, K.4    Fucharoen, S.5
  • 61
    • 0034734711 scopus 로고    scopus 로고
    • Prenatal DNA diagnosis of a single-gene disorder from maternal plasma.
    • 10.1016/S0140-6736(00)02767-7, 11030304
    • Saito H, Sekizawa A, Morimoto T, Suzuki M, Yanaihara T. Prenatal DNA diagnosis of a single-gene disorder from maternal plasma. Lancet 2000, 356:1170. 10.1016/S0140-6736(00)02767-7, 11030304.
    • (2000) Lancet , vol.356 , pp. 1170
    • Saito, H.1    Sekizawa, A.2    Morimoto, T.3    Suzuki, M.4    Yanaihara, T.5
  • 63
    • 33749553552 scopus 로고    scopus 로고
    • Detection of SNPs in the plasma of pregnant women and in the urine of kidney transplant recipients by mass spectrometry.
    • 10.1196/annals.1368.019, 17108204
    • Li Y, Hahn D, Wenzel F, Holzgreve W, Hahn S. Detection of SNPs in the plasma of pregnant women and in the urine of kidney transplant recipients by mass spectrometry. Ann N Y Acad Sci 2006, 1075:144-147. 10.1196/annals.1368.019, 17108204.
    • (2006) Ann N Y Acad Sci , vol.1075 , pp. 144-147
    • Li, Y.1    Hahn, D.2    Wenzel, F.3    Holzgreve, W.4    Hahn, S.5
  • 64
    • 0033621054 scopus 로고    scopus 로고
    • Chip-based genotyping by mass spectrometry.
    • 10.1073/pnas.96.18.10016, 17834, 10468554
    • Tang K, Fu DJ, Julien D, Braun A, Cantor CR, Koster H. Chip-based genotyping by mass spectrometry. Proc Natl Acad Sci USA 1999, 96:10016-10020. 10.1073/pnas.96.18.10016, 17834, 10468554.
    • (1999) Proc Natl Acad Sci USA , vol.96 , pp. 10016-10020
    • Tang, K.1    Fu, D.J.2    Julien, D.3    Braun, A.4    Cantor, C.R.5    Koster, H.6
  • 65
    • 2642540027 scopus 로고    scopus 로고
    • Size separation of circulatory DNA in maternal plasma permits ready detection of fetal DNA polymorphisms.
    • 10.1373/clinchem.2003.029835, 15073090
    • Li Y, Zimmermann B, Rusterholz C, Kang A, Holzgreve W, Hahn S. Size separation of circulatory DNA in maternal plasma permits ready detection of fetal DNA polymorphisms. Clin Chem 2004, 50:1002-1011. 10.1373/clinchem.2003.029835, 15073090.
    • (2004) Clin Chem , vol.50 , pp. 1002-1011
    • Li, Y.1    Zimmermann, B.2    Rusterholz, C.3    Kang, A.4    Holzgreve, W.5    Hahn, S.6
  • 66
    • 40449136047 scopus 로고    scopus 로고
    • Noninvasive prenatal diagnosis of fetal chromosomal aneuploidies by maternal plasma nucleic acid analysis.
    • 10.1373/clinchem.2007.100016, 18202154
    • Lo YM, Chiu RW. Noninvasive prenatal diagnosis of fetal chromosomal aneuploidies by maternal plasma nucleic acid analysis. Clin Chem 2008, 54:461-466. 10.1373/clinchem.2007.100016, 18202154.
    • (2008) Clin Chem , vol.54 , pp. 461-466
    • Lo, Y.M.1    Chiu, R.W.2
  • 67
    • 1442304191 scopus 로고    scopus 로고
    • Methods to increase the percentage of free fetal DNA recovered from the maternal circulation.
    • 10.1001/jama.291.9.1114, 14996781
    • Dhallan R, Au WC, Mattagajasingh S, Emche S, Bayliss P, Damewood M, Cronin M, Chou V, Mohr M. Methods to increase the percentage of free fetal DNA recovered from the maternal circulation. JAMA 2004, 291:1114-1119. 10.1001/jama.291.9.1114, 14996781.
    • (2004) JAMA , vol.291 , pp. 1114-1119
    • Dhallan, R.1    Au, W.C.2    Mattagajasingh, S.3    Emche, S.4    Bayliss, P.5    Damewood, M.6    Cronin, M.7    Chou, V.8    Mohr, M.9
  • 68
  • 69
    • 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.
    • 10.1373/clinchem.2004.042119, 15738521
    • Chinnapapagari SK, Holzgreve W, Lapaire O, Zimmermann B, Hahn S. 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 2005, 51:652-655. 10.1373/clinchem.2004.042119, 15738521.
    • (2005) Clin Chem , vol.51 , pp. 652-655
    • Chinnapapagari, S.K.1    Holzgreve, W.2    Lapaire, O.3    Zimmermann, B.4    Hahn, S.5
  • 70
    • 14544285000 scopus 로고    scopus 로고
    • Lack of dramatic enrichment of fetal DNA in maternal plasma by formaldehyde treatment.
    • 10.1373/clinchem.2004.042168, 15738522
    • Chung GT, Chiu RW, Chan KC, Lau TK, Leung TN, Lo YM. Lack of dramatic enrichment of fetal DNA in maternal plasma by formaldehyde treatment. Clin Chem 2005, 51:655-658. 10.1373/clinchem.2004.042168, 15738522.
    • (2005) Clin Chem , vol.51 , pp. 655-658
    • Chung, G.T.1    Chiu, R.W.2    Chan, K.C.3    Lau, T.K.4    Leung, T.N.5    Lo, Y.M.6
  • 71
    • 23044514626 scopus 로고    scopus 로고
    • Chromosome-wide and promoter-specific analyses identify sites of differential DNA methylation in normal and transformed human cells.
    • 10.1038/ng1598, 16007088
    • Weber M, Davies JJ, Wittig D, Oakeley EJ, Haase M, Lam WL, Schubeler D. Chromosome-wide and promoter-specific analyses identify sites of differential DNA methylation in normal and transformed human cells. Nat Genet 2005, 37:853-862. 10.1038/ng1598, 16007088.
    • (2005) Nat Genet , vol.37 , pp. 853-862
    • Weber, M.1    Davies, J.J.2    Wittig, D.3    Oakeley, E.J.4    Haase, M.5    Lam, W.L.6    Schubeler, D.7
  • 72
    • 33847065486 scopus 로고    scopus 로고
    • The epigenomics of cancer.
    • 10.1016/j.cell.2007.01.029, 17320506
    • Jones PA, Baylin SB. The epigenomics of cancer. Cell 2007, 128:683-692. 10.1016/j.cell.2007.01.029, 17320506.
    • (2007) Cell , vol.128 , pp. 683-692
    • Jones, P.A.1    Baylin, S.B.2
  • 73
    • 0032894125 scopus 로고    scopus 로고
    • Detection of aberrant promoter hypermethylation of tumor suppressor genes in serum DNA from non-small cell lung cancer patients.
    • Esteller M, Sanchez-Cespedes M, Rosell R, Sidransky D, Baylin SB, Herman JG. Detection of aberrant promoter hypermethylation of tumor suppressor genes in serum DNA from non-small cell lung cancer patients. Cancer Res 1999, 59:67-70.
    • (1999) Cancer Res , vol.59 , pp. 67-70
    • Esteller, M.1    Sanchez-Cespedes, M.2    Rosell, R.3    Sidransky, D.4    Baylin, S.B.5    Herman, J.G.6
  • 74
    • 0033566692 scopus 로고    scopus 로고
    • Quantitative analysis of aberrant p16 methylation using real-time quantitative methylation-specific polymerase chain reaction.
    • Lo YM, Wong IH, Zhang J, Tein MS, Ng MH, Hjelm NM. Quantitative analysis of aberrant p16 methylation using real-time quantitative methylation-specific polymerase chain reaction. Cancer Res 1999, 59:3899-3903.
    • (1999) Cancer Res , vol.59 , pp. 3899-3903
    • Lo, Y.M.1    Wong, I.H.2    Zhang, J.3    Tein, M.S.4    Ng, M.H.5    Hjelm, N.M.6
  • 76
    • 0029843950 scopus 로고    scopus 로고
    • Methylation-specific PCR: a novel PCR assay for methylation status of CpG islands.
    • 10.1073/pnas.93.18.9821, 38513, 8790415
    • Herman JG, Graff JR, Myohanen S, Nelkin BD, Baylin SB. Methylation-specific PCR: a novel PCR assay for methylation status of CpG islands. Proc Natl Acad Sci USA 1996, 93:9821-9826. 10.1073/pnas.93.18.9821, 38513, 8790415.
    • (1996) Proc Natl Acad Sci USA , vol.93 , pp. 9821-9826
    • Herman, J.G.1    Graff, J.R.2    Myohanen, S.3    Nelkin, B.D.4    Baylin, S.B.5
  • 78
    • 78650923625 scopus 로고    scopus 로고
    • Epigenetic-genetic chromosome dosage approach for fetal trisomy 21 detection using an autosomal genetic reference marker.
    • 10.1371/journal.pone.0015244, 3004793, 21249119
    • Tong YK, Chiu RW, Akolekar R, Leung TY, Lau TK, Nicolaides KH, Lo YM. Epigenetic-genetic chromosome dosage approach for fetal trisomy 21 detection using an autosomal genetic reference marker. PLoS One 2010, 5:e15244. 10.1371/journal.pone.0015244, 3004793, 21249119.
    • (2010) PLoS One , vol.5
    • Tong, Y.K.1    Chiu, R.W.2    Akolekar, R.3    Leung, T.Y.4    Lau, T.K.5    Nicolaides, K.H.6    Lo, Y.M.7
  • 79
    • 73449106855 scopus 로고    scopus 로고
    • Noninvasive prenatal detection of trisomy 21 by an epigenetic-genetic chromosome-dosage approach.
    • 10.1373/clinchem.2009.134114, 19850629
    • Tong YK, Jin S, Chiu RW, Ding C, Chan KC, Leung TY, Yu L, Lau TK, Lo YM. Noninvasive prenatal detection of trisomy 21 by an epigenetic-genetic chromosome-dosage approach. Clin Chem 2010, 56:90-98. 10.1373/clinchem.2009.134114, 19850629.
    • (2010) Clin Chem , vol.56 , pp. 90-98
    • Tong, Y.K.1    Jin, S.2    Chiu, R.W.3    Ding, C.4    Chan, K.C.5    Leung, T.Y.6    Yu, L.7    Lau, T.K.8    Lo, Y.M.9
  • 80
    • 33845522324 scopus 로고    scopus 로고
    • Noninvasive prenatal detection of fetal trisomy 18 by epigenetic allelic ratio analysis in maternal plasma: Theoretical and empirical considerations.
    • 10.1373/clinchem.2006.076851, 17040955
    • Tong YK, Ding C, Chiu RW, Gerovassili A, Chim SS, Leung TY, Leung TN, Lau TK, Nicolaides KH, Lo YM. Noninvasive prenatal detection of fetal trisomy 18 by epigenetic allelic ratio analysis in maternal plasma: Theoretical and empirical considerations. Clin Chem 2006, 52:2194-2202. 10.1373/clinchem.2006.076851, 17040955.
    • (2006) Clin Chem , vol.52 , pp. 2194-2202
    • Tong, Y.K.1    Ding, C.2    Chiu, R.W.3    Gerovassili, A.4    Chim, S.S.5    Leung, T.Y.6    Leung, T.N.7    Lau, T.K.8    Nicolaides, K.H.9    Lo, Y.M.10
  • 81
    • 0035407651 scopus 로고    scopus 로고
    • Bisulfite genomic sequencing: systematic investigation of critical experimental parameters.
    • 10.1093/nar/29.13.e65, 55789, 11433041
    • Grunau C, Clark SJ, Rosenthal A. Bisulfite genomic sequencing: systematic investigation of critical experimental parameters. Nucleic Acids Res 2001, 29:E65-65. 10.1093/nar/29.13.e65, 55789, 11433041.
    • (2001) Nucleic Acids Res , vol.29
    • Grunau, C.1    Clark, S.J.2    Rosenthal, A.3
  • 82
    • 3042701155 scopus 로고    scopus 로고
    • Epigenomics: beyond CpG islands.
    • 10.1038/nrg1349, 15153997
    • Fazzari MJ, Greally JM. Epigenomics: beyond CpG islands. Nat Rev Genet 2004, 5:446-455. 10.1038/nrg1349, 15153997.
    • (2004) Nat Rev Genet , vol.5 , pp. 446-455
    • Fazzari, M.J.1    Greally, J.M.2
  • 85
    • 28044449568 scopus 로고    scopus 로고
    • Detection of trisomy 21 by quantitative mass spectrometric analysis of single-nucleotide polymorphisms.
    • 10.1373/clinchem.2005.056978, 16306096
    • Tsui NB, Chiu RW, Ding C, El-Sheikhah A, Leung TN, Lau TK, Nicolaides KH, Lo YM. Detection of trisomy 21 by quantitative mass spectrometric analysis of single-nucleotide polymorphisms. Clin Chem 2005, 51:2358-2362. 10.1373/clinchem.2005.056978, 16306096.
    • (2005) Clin Chem , vol.51 , pp. 2358-2362
    • Tsui, N.B.1    Chiu, R.W.2    Ding, C.3    El-Sheikhah, A.4    Leung, T.N.5    Lau, T.K.6    Nicolaides, K.H.7    Lo, Y.M.8
  • 86
    • 56049106176 scopus 로고    scopus 로고
    • Prenatal diagnosis: update on invasive versus noninvasive fetal diagnostic testing from maternal blood.
    • 10.1586/14737159.8.6.727, 18999924
    • Geifman-Holtzman O, Ober Berman J. Prenatal diagnosis: update on invasive versus noninvasive fetal diagnostic testing from maternal blood. Expert Rev Mol Diagn 2008, 8:727-751. 10.1586/14737159.8.6.727, 18999924.
    • (2008) Expert Rev Mol Diagn , vol.8 , pp. 727-751
    • Geifman-Holtzman, O.1    Ober Berman, J.2
  • 87
    • 34047197743 scopus 로고    scopus 로고
    • Proteomics: a novel methodology to complement prenatal diagnosis of chromosomal abnormalities and inherited human diseases.
    • 10.1055/s-2007-972927, 17372862
    • Bahtiyar MO, Copel JA, Mahoney MJ, Buhimschi IA, Buhimschi CS. Proteomics: a novel methodology to complement prenatal diagnosis of chromosomal abnormalities and inherited human diseases. Am J Perinatol 2007, 24:167-181. 10.1055/s-2007-972927, 17372862.
    • (2007) Am J Perinatol , vol.24 , pp. 167-181
    • Bahtiyar, M.O.1    Copel, J.A.2    Mahoney, M.J.3    Buhimschi, I.A.4    Buhimschi, C.S.5
  • 88
    • 77955255742 scopus 로고    scopus 로고
    • Sensitivity of noninvasive prenatal detection of fetal aneuploidy from maternal plasma using shotgun sequencing is limited only by counting statistics.
    • 10.1371/journal.pone.0010439, 2862719, 20454671
    • Fan HC, Quake SR. Sensitivity of noninvasive prenatal detection of fetal aneuploidy from maternal plasma using shotgun sequencing is limited only by counting statistics. PLoS One 2010, 5:e10439. 10.1371/journal.pone.0010439, 2862719, 20454671.
    • (2010) PLoS One , vol.5
    • Fan, H.C.1    Quake, S.R.2
  • 93
    • 79959759113 scopus 로고    scopus 로고
    • Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood.
    • 10.1373/clinchem.2011.165910, 21519036
    • Sehnert AJ, Rhees B, Comstock D, de Feo E, Heilek G, Burke J, Rava RP. Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood. Clin Chem 2011, 57:1042-1049. 10.1373/clinchem.2011.165910, 21519036.
    • (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
  • 98
    • 65649095218 scopus 로고    scopus 로고
    • Sites of differential DNA methylation between placenta and peripheral blood: molecular markers for noninvasive prenatal diagnosis of aneuploidies.
    • 10.2353/ajpath.2009.081038, 2671250, 19349366
    • Papageorgiou EA, Fiegler H, Rakyan V, Beck S, Hulten M, Lamnissou K, Carter NP, Patsalis PC. Sites of differential DNA methylation between placenta and peripheral blood: molecular markers for noninvasive prenatal diagnosis of aneuploidies. Am J Pathol 2009, 174:1609-1618. 10.2353/ajpath.2009.081038, 2671250, 19349366.
    • (2009) Am J Pathol , vol.174 , pp. 1609-1618
    • Papageorgiou, E.A.1    Fiegler, H.2    Rakyan, V.3    Beck, S.4    Hulten, M.5    Lamnissou, K.6    Carter, N.P.7    Patsalis, P.C.8
  • 99
    • 79953739378 scopus 로고    scopus 로고
    • Fetal specific DNA methylation ratio permits non-invasive prenatal diagnosis of trisomy 21.
    • 10.1038/nm.2312, 21378977
    • Papageorgiou EA, Karagrigoriou A, Tsaliki E, Velissariou V, Carter NP, Patsalis PC. Fetal specific DNA methylation ratio permits non-invasive prenatal diagnosis of trisomy 21. Nat Med 2011, 17:510-513. 10.1038/nm.2312, 21378977.
    • (2011) Nat Med , vol.17 , pp. 510-513
    • Papageorgiou, E.A.1    Karagrigoriou, A.2    Tsaliki, E.3    Velissariou, V.4    Carter, N.P.5    Patsalis, P.C.6
  • 100
    • 0033762298 scopus 로고    scopus 로고
    • Presence of fetal RNA in maternal plasma.
    • Poon LL, Leung TN, Lau TK, Lo YM. Presence of fetal RNA in maternal plasma. Clin Chem 2000, 46:1832-1834.
    • (2000) Clin Chem , vol.46 , pp. 1832-1834
    • Poon, L.L.1    Leung, T.N.2    Lau, T.K.3    Lo, Y.M.4
  • 101
    • 0034926031 scopus 로고    scopus 로고
    • Extracellular tyrosinase mRNA within apoptotic bodies is protected from degradation in human serum.
    • Hasselmann DO, Rappl G, Tilgen W, Reinhold U. Extracellular tyrosinase mRNA within apoptotic bodies is protected from degradation in human serum. Clin Chem 2001, 47:1488-1489.
    • (2001) Clin Chem , vol.47 , pp. 1488-1489
    • Hasselmann, D.O.1    Rappl, G.2    Tilgen, W.3    Reinhold, U.4
  • 103
    • 0036794062 scopus 로고    scopus 로고
    • Stability of endogenous and added RNA in blood specimens, serum, and plasma.
    • Tsui NB, Ng EK, Lo YM. Stability of endogenous and added RNA in blood specimens, serum, and plasma. Clin Chem 2002, 48:1647-1653.
    • (2002) Clin Chem , vol.48 , pp. 1647-1653
    • Tsui, N.B.1    Ng, E.K.2    Lo, Y.M.3
  • 104
    • 2642529740 scopus 로고    scopus 로고
    • Systematic micro-array based identification of placental mRNA in maternal plasma: towards non-invasive prenatal gene expression profiling.
    • 10.1136/jmg.2003.016881, 1735812, 15173234
    • Tsui NB, Chim SS, Chiu RW, Lau TK, Ng EK, Leung TN, Tong YK, Chan KC, Lo YM. Systematic micro-array based identification of placental mRNA in maternal plasma: towards non-invasive prenatal gene expression profiling. J Med Genet 2004, 41:461-467. 10.1136/jmg.2003.016881, 1735812, 15173234.
    • (2004) J Med Genet , vol.41 , pp. 461-467
    • Tsui, N.B.1    Chim, S.S.2    Chiu, R.W.3    Lau, T.K.4    Ng, E.K.5    Leung, T.N.6    Tong, Y.K.7    Chan, K.C.8    Lo, Y.M.9
  • 105
    • 84934444003 scopus 로고    scopus 로고
    • A microarray approach for systematic identification of placental-derived RNA markers in maternal plasma.
    • 10.1007/978-1-59745-066-9_22, 18425489
    • Tsui NB, Lo YM. A microarray approach for systematic identification of placental-derived RNA markers in maternal plasma. Methods Mol Biol 2008, 444:275-289. 10.1007/978-1-59745-066-9_22, 18425489.
    • (2008) Methods Mol Biol , vol.444 , pp. 275-289
    • Tsui, N.B.1    Lo, Y.M.2
  • 108
    • 73449090473 scopus 로고    scopus 로고
    • Synergy of total PLAC4 RNA concentration and measurement of the RNA single-nucleotide polymorphism allelic ratio for the noninvasive prenatal detection of trisomy 21.
    • 10.1373/clinchem.2009.132662, 19892844
    • Tsui NB, Akolekar R, Chiu RW, Chow KC, Leung TY, Lau TK, Nicolaides KH, Lo YM. Synergy of total PLAC4 RNA concentration and measurement of the RNA single-nucleotide polymorphism allelic ratio for the noninvasive prenatal detection of trisomy 21. Clin Chem 2010, 56:73-81. 10.1373/clinchem.2009.132662, 19892844.
    • (2010) Clin Chem , vol.56 , pp. 73-81
    • Tsui, N.B.1    Akolekar, R.2    Chiu, R.W.3    Chow, K.C.4    Leung, T.Y.5    Lau, T.K.6    Nicolaides, K.H.7    Lo, Y.M.8
  • 109
    • 70350440342 scopus 로고    scopus 로고
    • Non-invasive prenatal detection of fetal trisomy 18 by RNA-SNP allelic ratio analysis using maternal plasma SERPINB2 mRNA: a feasibility study.
    • 10.1002/pd.2340, 19650060
    • Tsui NB, Wong BC, Leung TY, Lau TK, Chiu RW, Lo YM. Non-invasive prenatal detection of fetal trisomy 18 by RNA-SNP allelic ratio analysis using maternal plasma SERPINB2 mRNA: a feasibility study. Prenat Diagn 2009, 29:1031-1037. 10.1002/pd.2340, 19650060.
    • (2009) Prenat Diagn , vol.29 , pp. 1031-1037
    • Tsui, N.B.1    Wong, B.C.2    Leung, T.Y.3    Lau, T.K.4    Chiu, R.W.5    Lo, Y.M.6
  • 111
    • 35348999450 scopus 로고    scopus 로고
    • Detection of aneuploidy with digital polymerase chain reaction.
    • 10.1021/ac0709394, 17715994
    • Fan HC, Quake SR. Detection of aneuploidy with digital polymerase chain reaction. Anal Chem 2007, 79:7576-7579. 10.1021/ac0709394, 17715994.
    • (2007) Anal Chem , vol.79 , pp. 7576-7579
    • Fan, H.C.1    Quake, S.R.2
  • 112
    • 0033529765 scopus 로고    scopus 로고
    • Digital PCR.
    • 10.1073/pnas.96.16.9236, 17763, 10430926
    • Vogelstein B, Kinzler KW. Digital PCR. Proc Natl Acad Sci USA 1999, 96:9236-9241. 10.1073/pnas.96.16.9236, 17763, 10430926.
    • (1999) Proc Natl Acad Sci USA , vol.96 , pp. 9236-9241
    • Vogelstein, B.1    Kinzler, K.W.2
  • 113
    • 84861529757 scopus 로고    scopus 로고
    • SEQUENOM, Inc.
    • SEQUENOM, Inc. , http://www.sequenom.com
  • 114
    • 84861529756 scopus 로고    scopus 로고
    • Aria Diagnostics, Inc.
    • Aria Diagnostics, Inc. , http://www.ariadx.com
  • 115
    • 84861530862 scopus 로고    scopus 로고
    • Verinata Health, Inc.
    • Verinata Health, Inc. , http://www.verinata.com
  • 116
    • 84860213983 scopus 로고    scopus 로고
    • Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing.
    • 10.1097/AOG.0b013e31824fb482, 22362253
    • Bianchi DW, Platt LD, Goldberg JD, Abuhamad AZ, Sehnert AJ, Rava RP. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol 2012, 119:890-901. 10.1097/AOG.0b013e31824fb482, 22362253.
    • (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
  • 117
    • 84861532626 scopus 로고    scopus 로고
    • NIPD Genetics Ltd.
    • NIPD Genetics Ltd. , http://www.nipd.com
  • 118
    • 2942700307 scopus 로고    scopus 로고
    • The development of QUADAS: a tool for the quality assessment of studies of diagnostic accuracy included in systematic reviews.
    • 10.1186/1471-2288-3-25, 305345, 14606960
    • Whiting P, Rutjes AW, Reitsma JB, Bossuyt PM, Kleijnen J. The development of QUADAS: a tool for the quality assessment of studies of diagnostic accuracy included in systematic reviews. BMC Med Res Methodol 2003, 3:25. 10.1186/1471-2288-3-25, 305345, 14606960.
    • (2003) BMC Med Res Methodol , vol.3 , pp. 25
    • Whiting, P.1    Rutjes, A.W.2    Reitsma, J.B.3    Bossuyt, P.M.4    Kleijnen, J.5
  • 119
    • 77954101135 scopus 로고    scopus 로고
    • Noninvasive prenatal diagnosis in 2020.
    • 10.1002/pd.2516, 20572103
    • Lo YM. Noninvasive prenatal diagnosis in 2020. Prenat Diagn 2010, 30:702-703. 10.1002/pd.2516, 20572103.
    • (2010) Prenat Diagn , vol.30 , pp. 702-703
    • Lo, Y.M.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.