메뉴 건너뛰기




Volumn 25, Issue 11, 2005, Pages 1032-1039

Rapid detection of chromosomal aneuploidies in uncultured amniocytes by multiplex ligation-dependent probe amplification (MLPA)

Author keywords

Aneuploidy; Multiplex ligation dependent probe amplification (MLPA); Prenatal diagnosis; Uncultured amniocytes

Indexed keywords

AMNION CELL; AMNION FLUID ANALYSIS; ANEUPLOIDY; ARTICLE; CHROMOSOME 13; CHROMOSOME 18; CHROMOSOME 21; CHROMOSOME ANALYSIS; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST; FLUORESCENCE IN SITU HYBRIDIZATION; GENE AMPLIFICATION; GESTATIONAL AGE; HUMAN; KARYOTYPE 46,XY; KARYOTYPING; MOLECULAR PROBE; MONOSOMY X; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; TRIPLOIDY; TRISOMY; X CHROMOSOME; Y CHROMOSOME;

EID: 28544432673     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.1247     Document Type: Article
Times cited : (63)

References (27)
  • 1
    • 0029328411 scopus 로고
    • Rapid detection of selected aneuploidies by quantitative fluorescent PCR
    • Adinolfi M, Sherlock J, Pertl B. 1995. Rapid detection of selected aneuploidies by quantitative fluorescent PCR. Bioessays 17: 661-664.
    • (1995) Bioessays , vol.17 , pp. 661-664
    • Adinolfi, M.1    Sherlock, J.2    Pertl, B.3
  • 2
    • 0027425740 scopus 로고
    • Prenatal interphase fluorescence in situ hybridization (FISH) policy statement
    • American College of Medical Genetics. 1993. Prenatal interphase fluorescence in situ hybridization (FISH) policy statement. Am J Hum Genet 53: 526-527.
    • (1993) Am J Hum Genet , vol.53 , pp. 526-527
  • 3
    • 0030899993 scopus 로고    scopus 로고
    • Prenatal detection of chromosome aneuploidies by fluorescence in situ hybridization: Experience with 2000 uncultured amniotic fluid samples in a prospective preclinical trial
    • Bryndorf T, Christensen B, Vad M, Parner J, Brocks V, Philip J. 1997. Prenatal detection of chromosome aneuploidies by fluorescence in situ hybridization: experience with 2000 uncultured amniotic fluid samples in a prospective preclinical trial. Prenat Diagn 17: 333-341.
    • (1997) Prenat Diagn , vol.17 , pp. 333-341
    • Bryndorf, T.1    Christensen, B.2    Vad, M.3    Parner, J.4    Brocks, V.5    Philip, J.6
  • 5
    • 0036849384 scopus 로고    scopus 로고
    • X chromosome dosage by quantitative fluorescent PCR and rapid prenatal diagnosis of sex chromosome aneuploidies
    • Cirigliano V, Ejarque M, Fuster C, Adinolfi M. 2002. X chromosome dosage by quantitative fluorescent PCR and rapid prenatal diagnosis of sex chromosome aneuploidies. Mol Hum Reprod 8: 1042-1045.
    • (2002) Mol Hum Reprod , vol.8 , pp. 1042-1045
    • Cirigliano, V.1    Ejarque, M.2    Fuster, C.3    Adinolfi, M.4
  • 6
    • 19944407550 scopus 로고    scopus 로고
    • Rapid prenatal diagnosis of common chromosome aneuploidies by QF-PCR. Assessment on 18000 consecutive clinical samples
    • Cirigliano V, Voglino G, Canadas MP, et al. 2004. Rapid prenatal diagnosis of common chromosome aneuploidies by QF-PCR. Assessment on 18000 consecutive clinical samples. Mol Hum Reprod 10: 839-846.
    • (2004) Mol Hum Reprod , vol.10 , pp. 839-846
    • Cirigliano, V.1    Voglino, G.2    Canadas, M.P.3
  • 7
    • 0032951503 scopus 로고    scopus 로고
    • International, collaborative assessment of 146000 prenatal karyotypes: Expected limitations if only chromosome-specific probes and fluorescent in-situ hybridization are used
    • Evans MI, Henry GP, Miller WA, et al. 1999. International, collaborative assessment of 146000 prenatal karyotypes: expected limitations if only chromosome-specific probes and fluorescent in-situ hybridization are used. Hum Reprod 14: 1213-1216.
    • (1999) Hum Reprod , vol.14 , pp. 1213-1216
    • Evans, M.I.1    Henry, G.P.2    Miller, W.A.3
  • 8
    • 13544268702 scopus 로고    scopus 로고
    • Computer-assisted prenatal aneuploidy screening for chromosome 13, 18, 21, X and Y based on multiplex ligation-dependent probe amplification (MLPA)
    • Gerdes T, Kirchhoff M, Lind A-M, Vestergaard Larsen G, Schwartz M, Lundsteen C. 2005. Computer-assisted prenatal aneuploidy screening for chromosome 13, 18, 21, X and Y based on multiplex ligation-dependent probe amplification (MLPA). Eur J Hum Genet 13: 171-175.
    • (2005) Eur J Hum Genet , vol.13 , pp. 171-175
    • Gerdes, T.1    Kirchhoff, M.2    Lind, A.-M.3    Vestergaard Larsen, G.4    Schwartz, M.5    Lundsteen, C.6
  • 9
    • 0343699259 scopus 로고
    • Cell culture
    • Brock DJH, Rodeck CH, Ferguson-Smith MA (eds) Churchill Livingstone: Edinburgh
    • Gosden C. 1992. Cell culture. In Prenatal Diagnosis and Screening, Brock DJH, Rodeck CH, Ferguson-Smith MA (eds). Churchill Livingstone: Edinburgh; 85-98.
    • (1992) In Prenatal Diagnosis and Screening , pp. 85-98
    • Gosden, C.1
  • 10
    • 0038207040 scopus 로고    scopus 로고
    • Evaluation of molecular tests for prenatal diagnosis of chromosome abnormalities
    • Grimshaw GM, Szczepura A, Hultén M, et al. 2003. Evaluation of molecular tests for prenatal diagnosis of chromosome abnormalities. Health Technol Assess 7(10): 1-146.
    • (2003) Health Technol Assess , vol.7 , Issue.10 , pp. 1-146
    • Grimshaw, G.M.1    Szczepura, A.2    Hultén, M.3
  • 11
    • 0002682681 scopus 로고
    • Prevalence, risks and recurrence
    • Brock DJH, Rodeck CH, Ferguson-Smith MA (eds). Churchill Livingstone: Edinburgh
    • Hook EB. 1992. Prevalence, risks and recurrence. In Prenatal Diagnosis and Screening, Brock DJH, Rodeck CH, Ferguson-Smith MA (eds). Churchill Livingstone: Edinburgh; 351-392.
    • (1992) In Prenatal Diagnosis and Screening , pp. 351-392
    • Hook, E.B.1
  • 12
    • 4444291843 scopus 로고    scopus 로고
    • Detection of large-scale variation in the human genome
    • Iafrate AJ, Feuk L, Rivera MN, et al. 2004. Detection of large-scale variation in the human genome. Nat Genet 36: 949-951.
    • (2004) Nat Genet , vol.36 , pp. 949-951
    • Iafrate, A.J.1    Feuk, L.2    Rivera, M.N.3
  • 13
    • 0026636703 scopus 로고
    • Rapid detection of chromosome aneuploidies in uncultured amniocytes by using fluorescence in situ hybridization (FISH)
    • Klinger K, Landes G, Shook D, et al. 1992. Rapid detection of chromosome aneuploidies in uncultured amniocytes by using fluorescence in situ hybridization (FISH). Am J Hum Genet 51: 55-65.
    • (1992) Am J Hum Genet , vol.51 , pp. 55-65
    • Klinger, K.1    Landes, G.2    Shook, D.3
  • 14
    • 0025881002 scopus 로고
    • Detection of aneuploidy involving chromosomes 13, 18 or 21, by fluorescence in situ hybridization (FISH) to interphase and metaphase amniocytes
    • Kuo WL, Tenjin H, Segraves R, Pinkel D, Golbus MS, Gray J. 1991. Detection of aneuploidy involving chromosomes 13, 18 or 21, by fluorescence in situ hybridization (FISH) to interphase and metaphase amniocytes. Am J Hum Genet 49: 112-119.
    • (1991) Am J Hum Genet , vol.49 , pp. 112-119
    • Kuo, W.L.1    Tenjin, H.2    Segraves, R.3    Pinkel, D.4    Golbus, M.S.5    Gray, J.6
  • 15
    • 0033979407 scopus 로고    scopus 로고
    • Defining the efficiency of fluorescence in situ hybridization on uncultured amniocytes on a retrospective cohort of 27 407 prenatal diagnoses
    • Lewin P, Kleinfinger P, Bazin A, Mossafa H, Szpiro-Tapia S. 2000. Defining the efficiency of fluorescence in situ hybridization on uncultured amniocytes on a retrospective cohort of 27 407 prenatal diagnoses. Prenat Diagn 20: 1-6.
    • (2000) Prenat Diagn , vol.20 , pp. 1-6
    • Lewin, P.1    Kleinfinger, P.2    Bazin, A.3    Mossafa, H.4    Szpiro-Tapia, S.5
  • 17
    • 0035968604 scopus 로고    scopus 로고
    • Development and implementation of a new rapid aneuploidy diagnostic service within the UK National health service and implications for the future of prenatal diagnosis
    • Mann K, Fox SP, Abbs SJ, et al. 2001. Development and implementation of a new rapid aneuploidy diagnostic service within the UK National health service and implications for the future of prenatal diagnosis. Lancet 358: 1057-1061.
    • (2001) Lancet , vol.358 , pp. 1057-1061
    • Mann, K.1    Fox, S.P.2    Abbs, S.J.3
  • 18
    • 0027534753 scopus 로고
    • Diagnosis of Down syndrome and other aneuploidies using quantitative polymerase chain reaction and small tandem repeat polymorphisms
    • Mansfield ES. 1993. Diagnosis of Down syndrome and other aneuploidies using quantitative polymerase chain reaction and small tandem repeat polymorphisms. Hum Mol Genet 2: 43-50.
    • (1993) Hum Mol Genet , vol.2 , pp. 43-50
    • Mansfield, E.S.1
  • 19
    • 0028676251 scopus 로고
    • Prenatal aneuploidy detection in interphase cells by fluorescence in siu hybridization (FISH)
    • Philip J, Bryndorf B, Christensen B. 1994. Prenatal aneuploidy detection in interphase cells by fluorescence in siu hybridization (FISH). Prenat Diagn 14: 1203-1215.
    • (1994) Prenat Diagn , vol.14 , pp. 1203-1215
    • Philip, J.1    Bryndorf, B.2    Christensen, B.3
  • 20
    • 0035991645 scopus 로고    scopus 로고
    • Rapid detection of common autosomal ancuploidies by quantitative fluorescent PCR on uncultured amniocytes
    • Rahil H, Solassol J, Philippe C, Lefort G, Jonveaux P. 2002. Rapid detection of common autosomal ancuploidies by quantitative fluorescent PCR on uncultured amniocytes. Eur J Hum Genet 10: 462-466.
    • (2002) Eur J Hum Genet , vol.10 , pp. 462-466
    • Rahil, H.1    Solassol, J.2    Philippe, C.3    Lefort, G.4    Jonveaux, P.5
  • 22
    • 3242808027 scopus 로고    scopus 로고
    • Large-scale copy number polymorphism in the human genome
    • Sebat J, Lakshmi B, Troge J, et al. 2004. Large-scale copy number polymorphism in the human genome. Science 305: 525-528.
    • (2004) Science , vol.305 , pp. 525-528
    • Sebat, J.1    Lakshmi, B.2    Troge, J.3
  • 23
    • 1642544630 scopus 로고    scopus 로고
    • Rapid, high throughput prenatal diagnosis of aneuploidy using a novel quantitative method (MLPA)
    • Slater HR, Bruno DL, Ren H, Pertile M, Schouten JP, Choo KHA. 2003. Rapid, high throughput prenatal diagnosis of aneuploidy using a novel quantitative method (MLPA). J Med Genet 40: 907-912.
    • (2003) J Med Genet , vol.40 , pp. 907-912
    • Slater, H.R.1    Bruno, D.L.2    Ren, H.3    Pertile, M.4    Schouten, J.P.5    Choo, K.H.A.6
  • 24
    • 0035016839 scopus 로고    scopus 로고
    • Prenatal diagnosis using interphase fluorescence in situ hybridization (FISH): 2-year multi-center retrospective study and review of the literature
    • Tepperberg J, Pettenati MJ, Rao PN, et al. 2001. Prenatal diagnosis using interphase fluorescence in situ hybridization (FISH): 2-year multi-center retrospective study and review of the literature. Prenat Diagn 21: 293-301.
    • (2001) Prenat Diagn , vol.21 , pp. 293-301
    • Tepperberg, J.1    Pettenati, M.J.2    Rao, P.N.3
  • 25
    • 0034042125 scopus 로고    scopus 로고
    • An assessment of the use of interphase FISH with chromosome specific probes as an alternative to cytogenetics in prenatal diagnosis
    • Thein ATA, Abdel-Fattah SA, Kyle PM, Soothill PW. 2000. An assessment of the use of interphase FISH with chromosome specific probes as an alternative to cytogenetics in prenatal diagnosis. Prenat Diagn 20: 275-280.
    • (2000) Prenat Diagn , vol.20 , pp. 275-280
    • Thein, A.T.A.1    Abdel-Fattah, S.A.2    Kyle, P.M.3    Soothill, P.W.4
  • 26
    • 0027365371 scopus 로고
    • Rapid prenatal diagnosis of chromosomal aneuplodies by fluorescence in situ hybridisation: Clinical experience with 4500 specimens
    • Ward BE, Gersen SL, Carelli MP, et al. 1993. Rapid prenatal diagnosis of chromosomal aneuplodies by fluorescence in situ hybridisation: clinical experience with 4500 specimens. Am J Hum Genet 52: 854-865.
    • (1993) Am J Hum Genet , vol.52 , pp. 854-865
    • Ward, B.E.1    Gersen, S.L.2    Carelli, M.P.3
  • 27
    • 0036173354 scopus 로고    scopus 로고
    • Rapid prenatal diagnosis of trisomy 21 in 5049 consecutive uncultured amniotic fluid samples by fluorescence in situ hybridisation (FISH)
    • Witters I, Devriendt K, Legius E, et al. 2002. Rapid prenatal diagnosis of trisomy 21 in 5049 consecutive uncultured amniotic fluid samples by fluorescence in situ hybridisation (FISH). Prenat Diagn 22: 29-33.
    • (2002) Prenat Diagn , vol.22 , pp. 29-33
    • Witters, I.1    Devriendt, K.2    Legius, E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.