메뉴 건너뛰기




Volumn 21, Issue 3-4, 2013, Pages 275-284

Prenatal diagnosis of 21 trisomy by quantification of methylated fetal DNA in maternal blood: Study on 10 pregnancies;Diagnosticul prenatal al trisomiei 21 prin cuantificarea ADN-ului fetal metilat din sângele matern: Studiu pe 10 sarcini

Author keywords

Immunoprecipitation; Methylated fetal DNA; Non invasive prenatal diagnosis of 21 trisomy

Indexed keywords


EID: 84884368755     PISSN: 18416624     EISSN: None     Source Type: Journal    
DOI: 10.2478/rrlm-2013-0030     Document Type: Article
Times cited : (6)

References (28)
  • 2
    • 84884377049 scopus 로고    scopus 로고
    • Profilaxia bolilor genetice
    • Covic M, Ştefǎnescu D, Sandovici I (Eds.), 2nd Ed. Polirom Iaşi
    • Popovici C, Ştefǎnescu D, Mixitch F, Gug C, Covic M. Profilaxia bolilor genetice. Covic M, Ştefǎnescu D, Sandovici I (Eds.), Geneticǎ Medicalǎ, 2nd Ed. Polirom Iaşi, 2011:619-646
    • (2011) Geneticǎ Medicalǎ , pp. 619-646
    • Popovici, C.1    Ştefǎnescu, D.2    Mixitch, F.3    Gug, C.4    Covic, M.5
  • 3
    • 78650068383 scopus 로고    scopus 로고
    • Rapid testing versus karyotyping in Down's syndrome screening: Cost-effectiveness and detection of clinically significant chromosome abnormalities
    • Jan
    • Gekas J, van den Berg DG, Durand A, Vallée M, Wildschut HI, Bujold E, et al. Rapid testing versus karyotyping in Down's syndrome screening: cost-effectiveness and detection of clinically significant chromosome abnormalities. Eur J Hum Genet. 2011 Jan;19(1):3-9.
    • (2011) Eur J Hum Genet. , vol.19 , Issue.1 , pp. 3-9
    • Gekas, J.1    van den Berg, D.G.2    Durand, A.3    Vallée, M.4    Wildschut, H.I.5    Bujold, E.6
  • 4
    • 76449093190 scopus 로고    scopus 로고
    • Update on procedure-related risks for prenatal diagnosis techniques
    • Tabor A, Alfirevic Z. Update on procedure-related risks for prenatal diagnosis techniques. Fetal Diagn Ther. 2010;27(1):1-7
    • (2010) Fetal Diagn Ther. , vol.27 , Issue.1 , pp. 1-7
    • Tabor, A.1    Alfirevic, Z.2
  • 5
    • 79951943190 scopus 로고    scopus 로고
    • Rapid methods for targeted prenatal diagnosis of common chromosome aneuploidies
    • Apr
    • Faas BH, Cirigliano V, Bui TH. Rapid methods for targeted prenatal diagnosis of common chromosome aneuploidies. Semin Fetal Neonatal Med. 2011 Apr;16(2):81-7.
    • (2011) Semin Fetal Neonatal Med. , vol.16 , Issue.2 , pp. 81-87
    • Faas, B.H.1    Cirigliano, V.2    Bui, T.H.3
  • 7
    • 38949184249 scopus 로고    scopus 로고
    • Recent progress in non-invasive prenatal diagnosis
    • Apr
    • Hahn S, Yan Zhong X, Holzgreve W. Recent progress in non-invasive prenatal diagnosis. Semin Fetal Neonatal Med. 2008 Apr;13(2):57-62.
    • (2008) Semin Fetal Neonatal Med. , vol.13 , Issue.2 , pp. 57-62
    • Hahn, S.1    Yan Zhong, X.2    Holzgreve, W.3
  • 9
    • 0036635237 scopus 로고    scopus 로고
    • Fetal gender and aneuploidy detection using fetal cells in maternal blood: Analysis of NIFTY I data. National Institute of Child Health and Development Fetal Cell Isolation Study
    • Jul
    • Bianchi DW, Simpson JL, Jackson LG, Elias S, Holzgreve W, Evans MI, et al. Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I data. National Institute of Child Health and Development Fetal Cell Isolation Study. Prenat Diagn. 2002 Jul;22(7):609-15.
    • (2002) Prenat Diagn. , vol.22 , Issue.7 , pp. 609-615
    • Bianchi, D.W.1    Simpson, J.L.2    Jackson, L.G.3    Elias, S.4    Holzgreve, W.5    Evans, M.I.6
  • 10
    • 33847129200 scopus 로고    scopus 로고
    • Circulating (cell-free) nucleic acids--a promising, non-invasive tool for early detection of several human diseases
    • Mar
    • Swarup V, Rajeswari MR. Circulating (cell-free) nucleic acids--a promising, non-invasive tool for early detection of several human diseases. FEBS Lett. 2007 Mar;581(5):795-9.
    • (2007) FEBS Lett. , vol.581 , Issue.5 , pp. 795-799
    • Swarup, V.1    Rajeswari, M.R.2
  • 11
    • 13444279115 scopus 로고    scopus 로고
    • Cell-free fetal DNA in maternal blood: Kinetics, source and structure
    • Jan-Feb
    • Bischoff FZ, Lewis DE, Simpson JL. Cell-free fetal DNA in maternal blood: kinetics, source and structure. Hum Reprod Update. 2005 Jan-Feb;11(1):59-67.
    • (2005) Hum Reprod Update. , vol.11 , Issue.1 , pp. 59-67
    • Bischoff, F.Z.1    Lewis, D.E.2    Simpson, J.L.3
  • 12
    • 33845799282 scopus 로고    scopus 로고
    • Prenatal diagnosis: Progress through plasma nucleic acids
    • Jan
    • Dennis Lo YM, Chiu RW. Prenatal diagnosis: progress through plasma nucleic acids. Nat Rev Genet. 2007 Jan;8(1):71-7.
    • (2007) Nat Rev Genet. , vol.8 , Issue.1 , pp. 71-77
    • Dennis Lo, Y.M.1    Chiu, R.W.2
  • 13
    • 0032992867 scopus 로고    scopus 로고
    • Quantitative abnormalities of fetal DNA in maternal serum in preeclampsia
    • Feb
    • Lo YM, Leung TN, Tein MS, Sargent IL, Zhang J, Lau TK, et al. Quantitative abnormalities of fetal DNA in maternal serum in preeclampsia. Clin Chem. 1999 Feb;45(2):184-8.
    • (1999) Clin Chem. , vol.45 , Issue.2 , pp. 184-188
    • Lo, Y.M.1    Leung, T.N.2    Tein, M.S.3    Sargent, I.L.4    Zhang, J.5    Lau, T.K.6
  • 14
    • 0032512311 scopus 로고    scopus 로고
    • Maternal plasma fetal DNA as a marker for preterm labour
    • Dec
    • Leung TN, Zhang J, Lau TK, Hjelm NM, Lo YM. Maternal plasma fetal DNA as a marker for preterm labour. Lancet. 1998 Dec;352(9144):1904-5.
    • (1998) Lancet , vol.352 , Issue.9144 , pp. 1904-1905
    • Leung, T.N.1    Zhang, J.2    Lau, T.K.3    Hjelm, N.M.4    Lo, Y.M.5
  • 15
    • 0033833793 scopus 로고    scopus 로고
    • Cell-free fetal deoxyribonucleic acid in maternal circulation as a marker of fetalmaternal hemorrhage in patients undergoing external cephalic version near term
    • Sep
    • Lau TK, Lo KW, Chan LY, Leung TY and Lo YM. Cell-free fetal deoxyribonucleic acid in maternal circulation as a marker of fetalmaternal hemorrhage in patients undergoing external cephalic version near term. Am J Obstet Gynecol. 2000 Sep; 183(3):712-716.
    • (2000) Am J Obstet Gynecol. , vol.183 , Issue.3 , pp. 712-716
    • Lau, T.K.1    Lo, K.W.2    Chan, L.Y.3    Leung, T.Y.4    Lo, Y.M.5
  • 16
    • 0033736080 scopus 로고    scopus 로고
    • High levels of fetal erythroblasts and fetal extracellular DNA in the peripheral blood of a pregnant woman with idiopathic polyhydramnios: Case report
    • Oct
    • Zhong XY, Holzgreve W, Li JC, Aydinli K, Hahn S. High levels of fetal erythroblasts and fetal extracellular DNA in the peripheral blood of a pregnant woman with idiopathic polyhydramnios: case report. Prenat Diagn. 2000 Oct;20(10):838-41.
    • (2000) Prenat Diagn. , vol.20 , Issue.10 , pp. 838-841
    • Zhong, X.Y.1    Holzgreve, W.2    Li, J.C.3    Aydinli, K.4    Hahn, S.5
  • 17
    • 0033751975 scopus 로고    scopus 로고
    • Fetal DNA in maternal plasma is elevated in pregnancies with aneuploid fetuses
    • Oct
    • Zhong XY, Bürk MR, Troeger C, Jackson LR, Holzgreve W, Hahn S. Fetal DNA in maternal plasma is elevated in pregnancies with aneuploid fetuses. Prenat Diagn. 2000 Oct;20(10):795-8.
    • (2000) Prenat Diagn. , vol.20 , Issue.10 , pp. 795-798
    • Zhong, X.Y.1    Bürk, M.R.2    Troeger, C.3    Jackson, L.R.4    Holzgreve, W.5    Hahn, S.6
  • 18
    • 1642574222 scopus 로고    scopus 로고
    • Size distributions of maternal and fetal DNA in maternal plasma
    • Jan
    • Chan KC, Zhang J, Hui AB, Wong N, Lau TK, Leung TN, et al. Size distributions of maternal and fetal DNA in maternal plasma. Clin Chem. 2004 Jan;50(1):88-92.
    • (2004) Clin Chem. , vol.50 , Issue.1 , pp. 88-92
    • Chan, K.C.1    Zhang, J.2    Hui, A.B.3    Wong, N.4    Lau, T.K.5    Leung, T.N.6
  • 19
    • 79952233090 scopus 로고    scopus 로고
    • Current controversies in prenatal diagnosis 2: Down syndrome screening: Is ultrasound better than cell-free nucleic acids in maternal blood?
    • Mar
    • van Lith JM, Benacerraf BR, Yagel S. Current controversies in prenatal diagnosis 2: Down syndrome screening: is ultrasound better than cell-free nucleic acids in maternal blood? Prenat Diagn. 2011 Mar;31(3):231-4.
    • (2011) Prenat Diagn. , vol.31 , Issue.3 , pp. 231-234
    • van Lith, J.M.1    Benacerraf, B.R.2    Yagel, S.3
  • 20
    • 26844478953 scopus 로고    scopus 로고
    • Detection of the placental epigenetic signature of the maspin gene in maternal plasma
    • Oct
    • Chim SS, Tong YK, Chiu RW, Lau TK, Leung TN, Chan LY, et al. Detection of the placental epigenetic signature of the maspin gene in maternal plasma. Proc Natl Acad Sci U S A. 2005 Oct;102(41):14753-8.
    • (2005) Proc Natl Acad Sci U S A. , vol.102 , Issue.41 , pp. 14753-14758
    • Chim, S.S.1    Tong, Y.K.2    Chiu, R.W.3    Lau, T.K.4    Leung, T.N.5    Chan, L.Y.6
  • 21
    • 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
    • May
    • 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 May;5(5):e10439.
    • (2010) PLoS One. , vol.5 , Issue.5
    • Fan, H.C.1    Quake, S.R.2
  • 22
    • 65649095218 scopus 로고    scopus 로고
    • Sites of differential DNA methylation between placenta and peripheral blood: Molecular markers for noninvasive prenatal diagnosis of aneuploidies
    • May
    • Papageorgiou EA, Fiegler H, Rakyan V, Beck S, Hulten M, Lamnissou K, et al. Sites of differential DNA methylation between placenta and peripheral blood: molecular markers for noninvasive prenatal diagnosis of aneuploidies. Am J Pathol. 2009 May;174(5):1609-18.
    • (2009) Am J Pathol. , vol.174 , Issue.5 , pp. 1609-1618
    • Papageorgiou, E.A.1    Fiegler, H.2    Rakyan, V.3    Beck, S.4    Hulten, M.5    Lamnissou, K.6
  • 24
    • 84861357367 scopus 로고    scopus 로고
    • Non-invasive prenatal diagnosis of aneuploidies: New technologies and clinical applications
    • May
    • Papageorgiou EA, Patsalis PC. Non-invasive prenatal diagnosis of aneuploidies: new technologies and clinical applications. Genome Med. 2012 May;4(5):46.
    • (2012) Genome Med. , vol.4 , Issue.5 , pp. 46
    • Papageorgiou, E.A.1    Patsalis, P.C.2
  • 25
    • 84868645244 scopus 로고    scopus 로고
    • Technical concerns about immunoprecipitation of methylated fetal DNA for noninvasive trisomy 21 diagnosis
    • Sep
    • Tong YK, Chiu RW, Chan KC, Leung TY, Lo YM. Technical concerns about immunoprecipitation of methylated fetal DNA for noninvasive trisomy 21 diagnosis. Nat Med. 2012 Sep;18(9):1327-8.
    • (2012) Nat Med. , vol.18 , Issue.9 , pp. 1327-1328
    • Tong, Y.K.1    Chiu, R.W.2    Chan, K.C.3    Leung, T.Y.4    Lo, Y.M.5
  • 26
    • 84876270082 scopus 로고    scopus 로고
    • Noninvasive prenatal testing for fetal aneuploidy: Clinical assessment and a plea for restraint
    • April
    • Norton ME, Rose NC, Benn P., Noninvasive prenatal testing for fetal aneuploidy: Clinical assessment and a plea for restraint, Obstet. Gynecol., 2013 April; 121(4): 847-850
    • (2013) Obstet. Gynecol. , vol.121 , Issue.4 , pp. 847-850
    • Norton, M.E.1    Rose, N.C.2    Benn, P.3
  • 27
    • 84868029481 scopus 로고    scopus 로고
    • Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population
    • Nicolaides KH, Syngelaki A, Ashoor G, Birdir C., Touzet G. Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population. Am J Obstet Gynecol 2012;207:374. e1-6
    • (2012) Am J Obstet Gynecole1-6 , vol.207 , pp. 374
    • Nicolaides, K.H.1    Syngelaki, A.2    Ashoor, G.3    Birdir, C.4    Touzet, G.5
  • 28
    • 84881259318 scopus 로고    scopus 로고
    • A New Era in Noninvasive Prenatal Testing
    • Jul 17, DOI: 10.1056/NEJMp1304843
    • Morain S, Greene MF, Mello MM., A New Era in Noninvasive Prenatal Testing, N Engl J Med. 2013 Jul 17, 1-4 DOI: 10.1056/NEJMp1304843.
    • (2013) N Engl J Med. , pp. 1-4
    • Morain, S.1    Greene, M.F.2    Mello, M.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.