메뉴 건너뛰기




Volumn 30, Issue 3, 2010, Pages 655-665

Noninvasive prenatal diagnosis: 2010

Author keywords

Cell free fetal DNA RNA; Fetal cells; Noninvasive prenatal diagnosis

Indexed keywords

DNA; RHESUS D ANTIBODY; RNA;

EID: 77954781300     PISSN: 02722712     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cll.2010.04.011     Document Type: Review
Times cited : (10)

References (48)
  • 2
    • 23644441627 scopus 로고    scopus 로고
    • Invasive prenatal diagnostic procedures 2005
    • Evans M.I., Wapner R.J. Invasive prenatal diagnostic procedures 2005. Semin Perinatol 2005, 29(4):215-218.
    • (2005) Semin Perinatol , vol.29 , Issue.4 , pp. 215-218
    • Evans, M.I.1    Wapner, R.J.2
  • 4
    • 84925559936 scopus 로고    scopus 로고
    • Odibo A, Krantz DA, editors. Prenatal screening and diagnosis clinics in laboratory medicine. Philadelphia: Elsevier Saunders Publishing C, in press
    • Evans MI, Andriole S. Screening and testing in multiples. In: Odibo A, Krantz DA, editors. Prenatal screening and diagnosis clinics in laboratory medicine. Philadelphia: Elsevier Saunders Publishing C, in press.
    • Screening and testing in multiples
    • Evans, M.I.1    Andriole, S.2
  • 5
    • 0036635237 scopus 로고    scopus 로고
    • Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I Data
    • Bianchi D.W., Simpson J.L., Jackson L.G., et al. Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I Data. Prenat Diagn 2002, 22:609-615.
    • (2002) Prenat Diagn , vol.22 , pp. 609-615
    • Bianchi, D.W.1    Simpson, J.L.2    Jackson, L.G.3
  • 6
    • 0000013851 scopus 로고
    • Fetal cells in the blood of pregnant women: detection and enrichment by fluorescence-activated cell sorting
    • Herzenberg L.A., Bianchi D.W., Schroeder J., et al. Fetal cells in the blood of pregnant women: detection and enrichment by fluorescence-activated cell sorting. Proc Natl Acad Sci U S A 1979, 76:1453-1455.
    • (1979) Proc Natl Acad Sci U S A , vol.76 , pp. 1453-1455
    • Herzenberg, L.A.1    Bianchi, D.W.2    Schroeder, J.3
  • 9
    • 84925562933 scopus 로고    scopus 로고
    • Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis
    • Lo Y.M.D., Tein M.S., Lau T.K., et al. Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis. Am J Hum Genet 1999, 64:218-224.
    • (1999) Am J Hum Genet , vol.64 , pp. 218-224
    • Lo, Y.M.D.1    Tein, M.S.2    Lau, T.K.3
  • 10
    • 33846903851 scopus 로고    scopus 로고
    • Development of extraction protocols to improve the yield for fetal RNA in maternal plasma
    • Lo Y.M.D., Tsui N.B.Y., Leung T.Y., et al. Development of extraction protocols to improve the yield for fetal RNA in maternal plasma. Nat Med 2007, 13:218-223.
    • (2007) Nat Med , vol.13 , pp. 218-223
    • Lo, Y.M.D.1    Tsui, N.B.Y.2    Leung, T.Y.3
  • 11
    • 48549093650 scopus 로고    scopus 로고
    • Management of Rhesus alloimmunization in pregnancy
    • Moise K.J. Management of Rhesus alloimmunization in pregnancy. Obstet Gynecol 2008, 112:164-176.
    • (2008) Obstet Gynecol , vol.112 , pp. 164-176
    • Moise, K.J.1
  • 13
    • 0037431770 scopus 로고    scopus 로고
    • Intact fetal cells in maternal plasma: are they really there?
    • Bischoff F., Hahn S., Johnson K., et al. Intact fetal cells in maternal plasma: are they really there?. Lancet 2003, 361:139-140.
    • (2003) Lancet , vol.361 , pp. 139-140
    • Bischoff, F.1    Hahn, S.2    Johnson, K.3
  • 14
    • 3442897095 scopus 로고    scopus 로고
    • Getting fetal cells in maternal blood to work: eliminating the false positive XY signals in XX pregnancies
    • Kilpatrick M.W., Tafas T., Evans M.I., et al. Getting fetal cells in maternal blood to work: eliminating the false positive XY signals in XX pregnancies. Am J Obstet Gynecol 2004, 190:1571-1581.
    • (2004) Am J Obstet Gynecol , vol.190 , pp. 1571-1581
    • Kilpatrick, M.W.1    Tafas, T.2    Evans, M.I.3
  • 15
    • 55449089966 scopus 로고    scopus 로고
    • Detection of circulating fetal cells utilizing automated microscopy: potential for noninvasive prenatal diagnosis of chromosomal aneuploidies
    • Seppo A., Frisova V., Ichetovkin I., et al. Detection of circulating fetal cells utilizing automated microscopy: potential for noninvasive prenatal diagnosis of chromosomal aneuploidies. Prenat Diagn 2008, 28(9):815-821.
    • (2008) Prenat Diagn , vol.28 , Issue.9 , pp. 815-821
    • Seppo, A.1    Frisova, V.2    Ichetovkin, I.3
  • 16
    • 55449118859 scopus 로고    scopus 로고
    • A microfluidics approach for the solation of nucleated red blood cells (NRBCs) from peripheral blood of pregnant women
    • Huang R., Barber T.A., Schmidt M.A., et al. A microfluidics approach for the solation of nucleated red blood cells (NRBCs) from peripheral blood of pregnant women. Prenat Diagn 2008, 28:892-899.
    • (2008) Prenat Diagn , vol.28 , pp. 892-899
    • Huang, R.1    Barber, T.A.2    Schmidt, M.A.3
  • 17
    • 14844302808 scopus 로고    scopus 로고
    • New aspects of laser microdissection in research and routine
    • Burgemeister R. New aspects of laser microdissection in research and routine. J Histochem Cytochem 2005, 53:409-412.
    • (2005) J Histochem Cytochem , vol.53 , pp. 409-412
    • Burgemeister, R.1
  • 18
    • 0030705955 scopus 로고    scopus 로고
    • First trimester prenatal diagnosis using transcervical cells: an evaluation
    • Adinolfi M., Sherlock J. First trimester prenatal diagnosis using transcervical cells: an evaluation. Hum Reprod Update 1997, 3:383-392.
    • (1997) Hum Reprod Update , vol.3 , pp. 383-392
    • Adinolfi, M.1    Sherlock, J.2
  • 19
    • 0034850288 scopus 로고    scopus 로고
    • Fetal cells in the uterine cervix: a source for early non-invasive prenatal diagnosis
    • Fejgin M.D., Diukman R., Cotton Y., et al. Fetal cells in the uterine cervix: a source for early non-invasive prenatal diagnosis. Prenat Diagn 2001, 21:619-621.
    • (2001) Prenat Diagn , vol.21 , pp. 619-621
    • Fejgin, M.D.1    Diukman, R.2    Cotton, Y.3
  • 20
    • 0036898329 scopus 로고    scopus 로고
    • Strategies for the isolation and detection of fetal cells in transcervical samples
    • Bussani C., Cioni R., Scarselli B., et al. Strategies for the isolation and detection of fetal cells in transcervical samples. Prenat Diagn 2002, 22:1098-1101.
    • (2002) Prenat Diagn , vol.22 , pp. 1098-1101
    • Bussani, C.1    Cioni, R.2    Scarselli, B.3
  • 21
    • 16444368107 scopus 로고    scopus 로고
    • Comparison of two techniques for transcervical cell sampling performed in the same study population
    • Cioni R., Bussani C., Scarselli B., et al. Comparison of two techniques for transcervical cell sampling performed in the same study population. Prenat Diagn 2005, 25:198-202.
    • (2005) Prenat Diagn , vol.25 , pp. 198-202
    • Cioni, R.1    Bussani, C.2    Scarselli, B.3
  • 22
    • 0028834887 scopus 로고
    • Methods for the transcervical collection of fetal cells during the first trimester of pregnancy
    • Rodeck C., Tutschek B., Sherlock J., et al. Methods for the transcervical collection of fetal cells during the first trimester of pregnancy. Prenat Diagn 1995, 15:933-942.
    • (1995) Prenat Diagn , vol.15 , pp. 933-942
    • Rodeck, C.1    Tutschek, B.2    Sherlock, J.3
  • 23
    • 0029671222 scopus 로고    scopus 로고
    • Non-invasive early prenatal molecular diagnosis using retrieved transcervical trophoblast cells
    • Massari A., Novelli G., Colosimo A., et al. Non-invasive early prenatal molecular diagnosis using retrieved transcervical trophoblast cells. Hum Genet 1996, 97:150-155.
    • (1996) Hum Genet , vol.97 , pp. 150-155
    • Massari, A.1    Novelli, G.2    Colosimo, A.3
  • 24
    • 18744384945 scopus 로고    scopus 로고
    • DNA identification of fetal cells isolated from cervical mucus: potential for early non-invasive prenatal diagnosis
    • Katz-Jaffe M.G., Mantzaris D., Cram D.S. DNA identification of fetal cells isolated from cervical mucus: potential for early non-invasive prenatal diagnosis. BJOG 2005, 112:595-600.
    • (2005) BJOG , vol.112 , pp. 595-600
    • Katz-Jaffe, M.G.1    Mantzaris, D.2    Cram, D.S.3
  • 25
    • 0342618532 scopus 로고    scopus 로고
    • Presence of fetal DNA in maternal plasma and serum
    • Lo Y.M.D., Corbetta N., Chamberlain P.F., et al. Presence of fetal DNA in maternal plasma and serum. Lancet 1997, 350:485-487.
    • (1997) Lancet , vol.350 , pp. 485-487
    • Lo, Y.M.D.1    Corbetta, N.2    Chamberlain, P.F.3
  • 26
    • 1642574222 scopus 로고    scopus 로고
    • Size distributions of maternal and fetal DNA in maternal plasma
    • Chan K.C.A., Zhang J., Jui A.B., et al. Size distributions of maternal and fetal DNA in maternal plasma. Clin Chem 2004, 50:88-92.
    • (2004) Clin Chem , vol.50 , pp. 88-92
    • Chan, K.C.A.1    Zhang, J.2    Jui, A.B.3
  • 27
    • 13844269123 scopus 로고    scopus 로고
    • Detection of paternally inherited fetal point mutations for beta-thalassemia using size fractionated cell free DNA in maternal plasma
    • Li Y., DiNaro E., Vitucci A., et al. Detection of paternally inherited fetal point mutations for beta-thalassemia using size fractionated cell free DNA in maternal plasma. JAMA 2005, 293:843-849.
    • (2005) JAMA , vol.293 , pp. 843-849
    • Li, Y.1    DiNaro, E.2    Vitucci, A.3
  • 28
    • 0036140193 scopus 로고    scopus 로고
    • Differential DNA methylation between fetus and mother as a strategy for detecting fetal DNA in maternal plasma
    • Poon L.L.M., Leung T.N., Lau T.K., et al. 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.M.1    Leung, T.N.2    Lau, T.K.3
  • 29
    • 84925563430 scopus 로고    scopus 로고
    • Detection of the placental epigenetic signature of the maspin gene in maternal plasma
    • Chim S.S.C., Tong Y.K., Chiu R.W.K., et al. Detection of the placental epigenetic signature of the maspin gene in maternal plasma. Clin Chem 2002, 48:35-41.
    • (2002) Clin Chem , vol.48 , pp. 35-41
    • Chim, S.S.C.1    Tong, Y.K.2    Chiu, R.W.K.3
  • 30
    • 57449085114 scopus 로고    scopus 로고
    • Non invasive prenatal detection of fetal chromosomal aneuploidies by maternal plasma nucleic acid analysis: a review of the current state of the art
    • Lo Y.M.D. Non invasive prenatal detection of fetal chromosomal aneuploidies by maternal plasma nucleic acid analysis: a review of the current state of the art. Br J Obstet Gynaecol 2009, 116:152-157.
    • (2009) Br J Obstet Gynaecol , vol.116 , pp. 152-157
    • Lo, Y.M.D.1
  • 31
    • 84925564041 scopus 로고    scopus 로고
    • Available at:, Accessed June 1, 2010
    • Available at:, Accessed June 1, 2010. http://finance.yahoo.com/news/Sequenom-Announces-Settlement-prnews-939367606.html%3Fx%3D0%26.v%3D1.
  • 32
    • 34548727890 scopus 로고    scopus 로고
    • Digital PCR for the molecular detection of fetal chromosomal aneuploidy
    • Lo Y.M.D., Lun F.M.F., Chan K.C.A., 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.D.1    Lun, F.M.F.2    Chan, K.C.A.3
  • 33
    • 64249172678 scopus 로고    scopus 로고
    • Microfluidic digital PCR enables rapid prenatal diagnosis of fetal aneuploidy
    • e1-543.e7
    • Fan H.C., Blumenfeld Y.J., El-Sayed Y.Y., et al. Microfluidic digital PCR enables rapid prenatal diagnosis of fetal aneuploidy. Am J Obstet Gynecol 2009, 200:543. e1-543.e7.
    • (2009) Am J Obstet Gynecol , vol.200 , pp. 543
    • Fan, H.C.1    Blumenfeld, Y.J.2    El-Sayed, Y.Y.3
  • 35
    • 69949138533 scopus 로고    scopus 로고
    • Noninvasive prenatal diagnosis of fetal aneuploidies and Mendelian disorders: new innovative strategies
    • Hahn S., Jackson L.G., Kolla V., et al. Noninvasive prenatal diagnosis of fetal aneuploidies and Mendelian disorders: new innovative strategies. Expert Rev Mol Diagn 2009, 9:613-621.
    • (2009) Expert Rev Mol Diagn , vol.9 , pp. 613-621
    • Hahn, S.1    Jackson, L.G.2    Kolla, V.3
  • 36
    • 55849124028 scopus 로고    scopus 로고
    • Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood
    • Fan H.C., Blumenfeld Y.J., Chirkara 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    Chirkara, U.3
  • 37
    • 58149490683 scopus 로고    scopus 로고
    • Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma
    • Chiu R.W., Chan K.C., 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
  • 38
    • 33748787168 scopus 로고    scopus 로고
    • Diagnostic accuracy of noninvasive fetal Rh genotyping from maternal blood - a meta analysis
    • Geifman-Holtzman O., Grotegut C.A., Gaughan J.P. Diagnostic accuracy of noninvasive fetal Rh genotyping from maternal blood - a meta analysis. Am J Obstet Gynecol 2006, 195:1163-1173.
    • (2006) Am J Obstet Gynecol , vol.195 , pp. 1163-1173
    • Geifman-Holtzman, O.1    Grotegut, C.A.2    Gaughan, J.P.3
  • 39
    • 66749185086 scopus 로고    scopus 로고
    • Non-invasive prenatal testing: technical strategies to achieve testing of cell free fetal DNA RhD genotype in a clinical lab
    • Brown S., Kellner L.H., Munson M., et al. Non-invasive prenatal testing: technical strategies to achieve testing of cell free fetal DNA RhD genotype in a clinical lab. Am J Obstet Gynecol 2007, 197:S173.
    • (2007) Am J Obstet Gynecol , vol.197
    • Brown, S.1    Kellner, L.H.2    Munson, M.3
  • 40
    • 0037190608 scopus 로고    scopus 로고
    • Prenatal exclusion of beta thalassaemia major by examination of maternal plasma
    • Chiu R.W.K., Lau T.K., Leung T.N., et al. Prenatal exclusion of beta thalassaemia major by examination of maternal plasma. Lancet 2002, 360:998-1000.
    • (2002) Lancet , vol.360 , pp. 998-1000
    • Chiu, R.W.K.1    Lau, T.K.2    Leung, T.N.3
  • 41
    • 33846449071 scopus 로고    scopus 로고
    • Non-invasive prenatal detection of achondroplasia in size fractionated cell-free DNA by MALDI-TOF MS assay
    • Li Y., Page-Christiaens G.C., Gille J.J., et al. Non-invasive prenatal detection of achondroplasia in size fractionated cell-free DNA by MALDI-TOF MS assay. Prenat Diagn 2007, 27:11-17.
    • (2007) Prenat Diagn , vol.27 , pp. 11-17
    • Li, Y.1    Page-Christiaens, G.C.2    Gille, J.J.3
  • 42
    • 74049096725 scopus 로고    scopus 로고
    • Reliability of fetal sex determination using maternal plasma
    • Scheffer P.G., van der Schoot C.E., Godelieve C.M.L., et al. Reliability of fetal sex determination using maternal plasma. Obstet Gynecol 2010, 115:117-126.
    • (2010) Obstet Gynecol , vol.115 , pp. 117-126
    • Scheffer, P.G.1    van der Schoot, C.E.2    Godelieve, C.M.L.3
  • 43
    • 0037278318 scopus 로고    scopus 로고
    • Demographic factors for utilization of invasive genetic testing after multifetal pregnancy reduction (MFPR)
    • Baker C., Feldman B., Shalhoub A.G., et al. Demographic factors for utilization of invasive genetic testing after multifetal pregnancy reduction (MFPR). Fetal Diagn Ther 2003, 18:140-143.
    • (2003) Fetal Diagn Ther , vol.18 , pp. 140-143
    • Baker, C.1    Feldman, B.2    Shalhoub, A.G.3
  • 45
    • 27744477773 scopus 로고    scopus 로고
    • First trimester or second trimester screening or both for Down's Syndrome
    • Malone F.D., Canick J.A., Ball R.H., et al. First trimester or second trimester screening or both for Down's Syndrome. N Engl J Med 2005, 353:2001-2011.
    • (2005) N Engl J Med , vol.353 , pp. 2001-2011
    • Malone, F.D.1    Canick, J.A.2    Ball, R.H.3
  • 46
    • 42449083371 scopus 로고    scopus 로고
    • Screening advances and diagnostic choice: the problem of residual risk
    • Henry G.P., Britt D.W., Evans M.I. Screening advances and diagnostic choice: the problem of residual risk. Fetal Diagn Ther 2008, 23:308-315.
    • (2008) Fetal Diagn Ther , vol.23 , pp. 308-315
    • Henry, G.P.1    Britt, D.W.2    Evans, M.I.3
  • 47
    • 77950053727 scopus 로고    scopus 로고
    • Impact of quality of nuchal translucency measurements on detection rates of Trisomies 13 and 18
    • Evans M.I., Pergament E. Impact of quality of nuchal translucency measurements on detection rates of Trisomies 13 and 18. Fetal Diagn Ther 2010, 27:68-71.
    • (2010) Fetal Diagn Ther , vol.27 , pp. 68-71
    • Evans, M.I.1    Pergament, E.2
  • 48
    • 0035746544 scopus 로고    scopus 로고
    • Favorable attitudes toward testing for chromosomal abnormalities via analysis of fetal cells in maternal blood
    • Zamerowski S.T., Lumley M.A., Arreola R.A., et al. Favorable attitudes toward testing for chromosomal abnormalities via analysis of fetal cells in maternal blood. Genet Med 2001, 4:301-309.
    • (2001) Genet Med , vol.4 , pp. 301-309
    • Zamerowski, S.T.1    Lumley, M.A.2    Arreola, R.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.