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Volumn 31, Issue 11, 2011, Pages 1029-1038

Incidence of placental mosaicism leading to discrepant results between QF-PCR and karyotyping in 22,825 chorionic villus samples

Author keywords

Discrepancy; Fetal and placental pathology; General cytogenetics; Genetic counselling; Placental mosaicism; Prenatal cytogenetics; Rapid aneuploidy PCR

Indexed keywords

ALLELE; ARTICLE; CHORION VILLUS; CHORION VILLUS SAMPLING; CYTOGENETICS; HUMAN; HUMAN TISSUE; INCIDENCE; KARYOTYPING; MAJOR CLINICAL STUDY; MOSAICISM; PLACENTA; POLYMERASE CHAIN REACTION; PRENATAL CYTOGENETICS; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; QUANTITATIVE FLUORESCENT POLYMERASE CHAIN REACTION; RETROSPECTIVE STUDY;

EID: 80055077668     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.2826     Document Type: Article
Times cited : (13)

References (27)
  • 1
    • 0141836122 scopus 로고    scopus 로고
    • Amniocentesis and chorionic villus sampling for prenatal diagnosis
    • Art. No.: CD003252. DOI: 10.1002/14651858.CD003252.
    • Alfirevic Z, Mujezinovic F, Sundberg K. 2003. Amniocentesis and chorionic villus sampling for prenatal diagnosis. Cochrane Database Syst Rev (3):Art. No.: CD003252. DOI: 10.1002/14651858.CD003252.
    • (2003) Cochrane Database Syst Rev , Issue.3
    • Alfirevic, Z.1    Mujezinovic, F.2    Sundberg, K.3
  • 2
    • 33845571784 scopus 로고    scopus 로고
    • Rapid prenatal diagnosis of common trisomies: discordant results between QF-PCR analysis and karyotype analysis on long-term culture for a case of trisomy 18 detected in CVS
    • Allen SK, Luharia A, Gould CP, MacDonald F, Larkins S, Davison EV. 2006. Rapid prenatal diagnosis of common trisomies: discordant results between QF-PCR analysis and karyotype analysis on long-term culture for a case of trisomy 18 detected in CVS. Prenat Diagn 26: 1160-1167.
    • (2006) Prenat Diagn , vol.26 , pp. 1160-1167
    • Allen, S.K.1    Luharia, A.2    Gould, C.P.3    MacDonald, F.4    Larkins, S.5    Davison, E.V.6
  • 3
    • 0034789823 scopus 로고    scopus 로고
    • Clinical application of multiplex quantitative fluorescent polymerase chain reaction (QF-PCR) for the rapid prenatal detection of common chromosome aneuploidies
    • Cirigliano V, Ejarque M, Canadas MP, et al. 2001. Clinical application of multiplex quantitative fluorescent polymerase chain reaction (QF-PCR) for the rapid prenatal detection of common chromosome aneuploidies. Mol Hum Reprod 7: 1001-1006.
    • (2001) Mol Hum Reprod , vol.7 , pp. 1001-1006
    • Cirigliano, V.1    Ejarque, M.2    Canadas, M.P.3
  • 6
    • 80055071321 scopus 로고    scopus 로고
    • CMGS. Best practice guidelines for QF-PCR for the diagnosis of aneuploidy. [Accessed on 21 December 2010].
    • CMGS. 2004. Best practice guidelines for QF-PCR for the diagnosis of aneuploidy. [Accessed on 21 December 2010].
    • (2004)
  • 7
    • 80055093895 scopus 로고    scopus 로고
    • CMGS. Best practice guidelines for QF-PCR for the diagnosis of aneuploidy. [Accessed on 21 December 2010].
    • CMGS. 2007. Best practice guidelines for QF-PCR for the diagnosis of aneuploidy. [Accessed on 21 December 2010].
    • (2007)
  • 8
    • 13244249913 scopus 로고    scopus 로고
    • Detection of mosaicism for primary trisomies in prenatal samples by QF-PCR and karyotype analysis
    • Donaghue C, Mann K, Docherty Z, Mackie-Ogilvie C. 2005. Detection of mosaicism for primary trisomies in prenatal samples by QF-PCR and karyotype analysis. Prenat Diagn 25: 65-72.
    • (2005) Prenat Diagn , vol.25 , pp. 65-72
    • Donaghue, C.1    Mann, K.2    Docherty, Z.3    Mackie-Ogilvie, C.4
  • 9
    • 0037343233 scopus 로고    scopus 로고
    • Development and targeted application of a rapid QF-PCR test for sex chromosome imbalance
    • Donaghue C, Roberts A, Mann K, Ogilvie CM. 2003. Development and targeted application of a rapid QF-PCR test for sex chromosome imbalance. Prenat Diagn 23(3): 201-210.
    • (2003) Prenat Diagn , vol.23 , Issue.3 , pp. 201-210
    • Donaghue, C.1    Roberts, A.2    Mann, K.3    Ogilvie, C.M.4
  • 10
    • 0030986393 scopus 로고    scopus 로고
    • Accuracy of cytogenetic findings on chorionic villus sampling (CVS)-diagnostic consequences of CVS mosaicism and non-mosaic discrepancy in centres contributing to EUCHROMIC 1986-1992
    • Hahnemann J, Vejerslev L. 1997. Accuracy of cytogenetic findings on chorionic villus sampling (CVS)-diagnostic consequences of CVS mosaicism and non-mosaic discrepancy in centres contributing to EUCHROMIC 1986-1992. Prenat Diagn 17(9): 801-820.
    • (1997) Prenat Diagn , vol.17 , Issue.9 , pp. 801-820
    • Hahnemann, J.1    Vejerslev, L.2
  • 11
    • 59649111577 scopus 로고    scopus 로고
    • A novel method for extracting DNA from chorionic villus samples for use in CVS-PCR, which ensures complete villus dissociation
    • Holgado E, Holgado B, Liddle S, Ballard T, Levett L. 2009. A novel method for extracting DNA from chorionic villus samples for use in CVS-PCR, which ensures complete villus dissociation. Prenat Diagn 29: 113-119.
    • (2009) Prenat Diagn , vol.29 , pp. 113-119
    • Holgado, E.1    Holgado, B.2    Liddle, S.3    Ballard, T.4    Levett, L.5
  • 12
    • 0026682553 scopus 로고
    • Cytogenetic results from the US collaborative study on CVS
    • Ledbetter DH, Zachary JM, Simpson JL, et al. 1992. Cytogenetic results from the US collaborative study on CVS. Prenat Diagn 12: 317-345.
    • (1992) Prenat Diagn , vol.12 , pp. 317-345
    • Ledbetter, D.H.1    Zachary, J.M.2    Simpson, J.L.3
  • 13
    • 0035081439 scopus 로고    scopus 로고
    • A large-scale evaluation of amnio-PCR for the rapid prenatal diagnosis of fetal trisomy
    • Levett LJ, Liddle S, Meredith R. 2001. A large-scale evaluation of amnio-PCR for the rapid prenatal diagnosis of fetal trisomy. Ultrasound Obstet Gynecol 17(2): 115-118.
    • (2001) Ultrasound Obstet Gynecol , vol.17 , Issue.2 , pp. 115-118
    • Levett, L.J.1    Liddle, S.2    Meredith, R.3
  • 15
    • 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
  • 16
    • 33947431692 scopus 로고    scopus 로고
    • Analysis of a chromosomally mosaic placenta to assess the cell populations in dissociated villi: implications for QF-PCR aneuploidy testing
    • Letter to the editor).
    • Mann K, Kabba M, Donaghue C, Hills A, Mackie Ogilvie C. 2007. Analysis of a chromosomally mosaic placenta to assess the cell populations in dissociated villi: implications for QF-PCR aneuploidy testing. Prenat Diagn 27: 287-289. (Letter to the editor).
    • (2007) Prenat Diagn , vol.27 , pp. 287-289
    • Mann, K.1    Kabba, M.2    Donaghue, C.3    Hills, A.4    Mackie Ogilvie, C.5
  • 17
    • 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
  • 18
    • 78650803485 scopus 로고    scopus 로고
    • Screening for fetal aneuploidies at 11 to 13 weeks
    • Nicolaides KH. 2011. Screening for fetal aneuploidies at 11 to 13 weeks. Prenat Diagn 31: 7-15.
    • (2011) Prenat Diagn , vol.31 , pp. 7-15
    • Nicolaides, K.H.1
  • 19
    • 14844293140 scopus 로고    scopus 로고
    • Rapid prenatal diagnosis of aneuploidy using quantitative fluorescence-PCR (QF-PCR)
    • Ogilvie CM, Donaghue C, Fox SP, Docherty Z, Mann K. 2005. Rapid prenatal diagnosis of aneuploidy using quantitative fluorescence-PCR (QF-PCR). J Histochem Cytochem 53(3): 285-288.
    • (2005) J Histochem Cytochem , vol.53 , Issue.3 , pp. 285-288
    • Ogilvie, C.M.1    Donaghue, C.2    Fox, S.P.3    Docherty, Z.4    Mann, K.5
  • 20
    • 0028353764 scopus 로고
    • Rapid molecular method for prenatal detection of Downs syndrome
    • Pertl B, Yau SC, Sherlock J, Davies AF, Mathew CG, Adinolfi M. 1994. Rapid molecular method for prenatal detection of Downs syndrome. Lancet 343(8907): 1197-1198.
    • (1994) Lancet , vol.343 , Issue.8907 , pp. 1197-1198
    • Pertl, B.1    Yau, S.C.2    Sherlock, J.3    Davies, A.F.4    Mathew, C.G.5    Adinolfi, M.6
  • 21
    • 0026636860 scopus 로고
    • A rare case of a false-negative finding in both direct and culture of a chorionic villus sample
    • Pindar L, Whitehouse M, Ocraft K. 1992. A rare case of a false-negative finding in both direct and culture of a chorionic villus sample. Prenat Diagn 12: 525-527.
    • (1992) Prenat Diagn , vol.12 , pp. 525-527
    • Pindar, L.1    Whitehouse, M.2    Ocraft, K.3
  • 22
    • 80055097529 scopus 로고    scopus 로고
    • Royal College of Obstetricians and Gynaecologists. [Accessed on 14 December 2010].
    • Royal College of Obstetricians and Gynaecologists. [Accessed on 14 December 2010].
  • 23
    • 0032863575 scopus 로고    scopus 로고
    • The predictive value of findings of the common aneuploidies, Trisomies 13, 18 and 21 and numerical sex chromosome abnormalities at CVS: experience from the ACC U.K. collaborative study. Association of clinical cytogeneticists prenatal diagnosis working party
    • Smith K, Lowther G, Maher E, Hourihan T, Wilkinson T, Wolstenholme J. 1999. The predictive value of findings of the common aneuploidies, Trisomies 13, 18 and 21 and numerical sex chromosome abnormalities at CVS: experience from the ACC U.K. collaborative study. Association of clinical cytogeneticists prenatal diagnosis working party. Prenat Diagn 19(9): 817-826.
    • (1999) Prenat Diagn , vol.19 , Issue.9 , pp. 817-826
    • Smith, K.1    Lowther, G.2    Maher, E.3    Hourihan, T.4    Wilkinson, T.5    Wolstenholme, J.6
  • 25
    • 34247230944 scopus 로고    scopus 로고
    • Complete discrepancy between QF-PCR analysis of uncultured villi and karyotyping of cultured cells in the prenatal diagnosis of trisomy 21 in three CVS
    • Waters JJ, Mann K, Grimsley L, et al. 2007. Complete discrepancy between QF-PCR analysis of uncultured villi and karyotyping of cultured cells in the prenatal diagnosis of trisomy 21 in three CVS. Prenat Diagn 27: 332-339.
    • (2007) Prenat Diagn , vol.27 , pp. 332-339
    • Waters, J.J.1    Mann, K.2    Grimsley, L.3
  • 26
    • 80055074375 scopus 로고    scopus 로고
    • UK audit of biallelic abnormal PCR results in Chorionic villus samples. Clinical Molecular Genetics Society Spring Meeting, Liverpool.
    • Waters JJ, Mann K, Ogilvie C. 2008. UK audit of biallelic abnormal PCR results in Chorionic villus samples. Clinical Molecular Genetics Society Spring Meeting, Liverpool.
    • (2008)
    • Waters, J.J.1    Mann, K.2    Ogilvie, C.3
  • 27
    • 33750571690 scopus 로고    scopus 로고
    • Complete discrepancy between abnormal fetal karyotypes predicted by QF-PCR rapid testing and karyotyped cultured cells in a first trimester CVS
    • Waters JJ, Walsh S, Levett L, Liddle S, Akinfenwa Y. 2006. Complete discrepancy between abnormal fetal karyotypes predicted by QF-PCR rapid testing and karyotyped cultured cells in a first trimester CVS. Prenat Diagn 26: 892-897.
    • (2006) Prenat Diagn , vol.26 , pp. 892-897
    • Waters, J.J.1    Walsh, S.2    Levett, L.3    Liddle, S.4    Akinfenwa, Y.5


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