메뉴 건너뛰기




Volumn 11, Issue 6, 2011, Pages 579-592

Copy-number changes in prenatal diagnosis

Author keywords

array based comparative genomic hybridization; chromosomal microarray analysis; copy number variant; prenatal diagnosis

Indexed keywords

AMNIOCENTESIS; AMNION FLUID; CELL FREE SYSTEM; CHORION VILLUS SAMPLING; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME DISORDER; CHROMOSOME MOSAICISM; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; DNA EXTRACTION; DNA FRAGMENTATION; DNA MICROARRAY; DOWN SYNDROME; FAMILY HISTORY; FETUS MALFORMATION; FLUORESCENCE IN SITU HYBRIDIZATION; FLUORESCENCE MICROSCOPY; GENE AMPLIFICATION; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENE TRANSLOCATION; GENETIC ASSOCIATION; GENETIC COUNSELING; GENETIC DISORDER; GENETIC RISK; HIGH RISK PATIENT; HUMAN; KARYOTYPE; KLINEFELTER SYNDROME; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; SPONTANEOUS ABORTION; TRIPLOIDY; TURNER SYNDROME; UNIPARENTAL DISOMY;

EID: 79960203387     PISSN: 14737159     EISSN: 17448352     Source Type: Journal    
DOI: 10.1586/erm.11.43     Document Type: Review
Times cited : (23)

References (102)
  • 1
    • 78649635514 scopus 로고    scopus 로고
    • Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities
    • Manning M, Hudgins L. Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Genet. Med. 12(11), 742-745 (2010)
    • (2010) Genet. Med. , vol.12 , Issue.11 , pp. 742-745
    • Manning, M.1    Hudgins, L.2
  • 2
    • 77952032690 scopus 로고    scopus 로고
    • Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
    • Miller DT, Adam MP, Aradhya S et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am. J. Hum. Genet. 86(5), 749-764 (2010)
    • (2010) Am. J. Hum. Genet. , vol.86 , Issue.5 , pp. 749-764
    • Miller, D.T.1    Adam, M.P.2    Aradhya, S.3
  • 3
    • 34249680839 scopus 로고    scopus 로고
    • Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation
    • DOI 10.1016/j.gde.2007.04.009, PII S0959437X07000743
    • Stankiewicz P, Beaudet AL. Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation. Curr. Opin. Genet. Dev. 17(3), 182-192 (2007) (Pubitemid 46843553)
    • (2007) Current Opinion in Genetics and Development , vol.17 , Issue.3 , pp. 182-192
    • Stankiewicz, P.1    Beaudet, A.L.2
  • 4
    • 0036788341 scopus 로고    scopus 로고
    • Human cytogenetics: 46 chromosomes, 46 years and counting
    • Trask BJ. Human cytogenetics: 46 chromosomes, 46 years and counting. Nat. Rev. Genet. 3(10), 769-778 (2002)
    • (2002) Nat. Rev. Genet. , vol.3 , Issue.10 , pp. 769-778
    • Trask, B.J.1
  • 8
    • 0032700263 scopus 로고    scopus 로고
    • Rapid prenatal diagnosis of aneuploidy by quantitative fluorescent PCR on fetal samples from mothers at high risk for chromosome disorders
    • Pertl B, Pieber D, Lercher-Hartlieb A et al. Rapid prenatal diagnosis of aneuploidy by quantitative fluorescent PCR on fetal samples from mothers at high risk for chromosome disorders. Mol. Hum. Reprod. 5(12), 1176-1179 (1999)
    • (1999) Mol. Hum. Reprod. , vol.5 , Issue.12 , pp. 1176-1179
    • Pertl, B.1    Pieber, D.2    Lercher-Hartlieb, A.3
  • 10
    • 0022650629 scopus 로고
    • Randomised controlled trial of genetic amniocentesis in 4606 low-risk women
    • Tabor A, Philip J, Madsen M, Bang J, Obel EB, Norgaard-Pedersen B. Randomised controlled trial of genetic amniocentesis in 4606 low-risk women. Lancet 1(8493), 1287-1293 (1986)
    • (1986) Lancet , vol.1 , Issue.8493 , pp. 1287-1293
    • Tabor, A.1    Philip, J.2    Madsen, M.3    Bang, J.4    Obel, E.B.5    Norgaard-Pedersen, B.6
  • 12
    • 38449105506 scopus 로고    scopus 로고
    • Invasive prenatal testing for aneuploidy
    • ACOG. ACOG Practice Bulletin No. 88, December 2007
    • ACOG. ACOG Practice Bulletin No. 88, December 2007. Invasive prenatal testing for aneuploidy. Obstet. Gynecol. 110(6), 1459-1467 (2007)
    • (2007) Obstet. Gynecol. , vol.110 , Issue.6 , pp. 1459-1467
  • 13
    • 18744384945 scopus 로고    scopus 로고
    • DNA identification of fetal cells isolated from cervical mucus: Potential for early non-invasive prenatal diagnosis
    • DOI 10.1111/j.1471-0528.2004.00506.x
    • Katz-Jaffe MG, Mantzaris D, Cram DS. DNA identification of fetal cells isolated from cervical mucus: potential for early non-invasive prenatal diagnosis. Br. J. Obstet. Gynecol. 112(5), 595-600 (2005) (Pubitemid 40675795)
    • (2005) BJOG: An International Journal of Obstetrics and Gynaecology , vol.112 , Issue.5 , pp. 595-600
    • Katz-Jaffe, M.G.1    Mantzaris, D.2    Cram, D.S.3
  • 14
    • 33845942655 scopus 로고    scopus 로고
    • ACOG. ACOG Practice Bulletin No. 77: screening for fetal chromosomal abnormalities
    • ACOG. ACOG Practice Bulletin No. 77: screening for fetal chromosomal abnormalities. Obstet. Gynecol. 109(1), 217-227 (2007)
    • (2007) Obstet. Gynecol. , vol.109 , Issue.1 , pp. 217-227
  • 15
    • 0026495364 scopus 로고
    • Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors
    • Kallioniemi A, Kallioniemi OP, Sudar D et al. Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science 258(5083), 818-821 (1992)
    • (1992) Science , vol.258 , Issue.5083 , pp. 818-821
    • Kallioniemi, A.1    Kallioniemi, O.P.2    Sudar, D.3
  • 17
    • 33646046176 scopus 로고    scopus 로고
    • Detecting sex chromosome anomalies and common triploidies in products of conception by array-based comparative genomic hybridization
    • Ballif BC, Kashork CD, Saleki R et al. Detecting sex chromosome anomalies and common triploidies in products of conception by array-based comparative genomic hybridization. Prenat. Diagn. 26(4), 333-339 (2006)
    • (2006) Prenat. Diagn. , vol.26 , Issue.4 , pp. 333-339
    • Ballif, B.C.1    Kashork, C.D.2    Saleki, R.3
  • 19
    • 34347339520 scopus 로고    scopus 로고
    • Methods and strategies for analyzing copy number variation using DNA microarrays
    • DOI 10.1038/ng2028, PII NG2028
    • Carter NP. Methods and strategies for analyzing copy number variation using DNA microarrays. Nat. Genet. 39(Suppl. 7), S16-S21 (2007) (Pubitemid 47014471)
    • (2007) Nature Genetics , vol.39 , Issue.SUPPL. 1
    • Carter, N.P.1
  • 20
    • 77949831756 scopus 로고    scopus 로고
    • Structural variation in the human genome and its role in disease
    • Stankiewicz P, Lupski JR. Structural variation in the human genome and its role in disease. Annu. Rev. Med. 61, 437-455 (2010)
    • (2010) Annu. Rev. Med. , vol.61 , pp. 437-455
    • Stankiewicz, P.1    Lupski, J.R.2
  • 21
    • 34249717942 scopus 로고    scopus 로고
    • Clinicalimplementation of chromosomal microarray analysis: Summary of 2513 postnatal cases
    • Lu X, Shaw CA, Patel A et al. Clinicalimplementation of chromosomal microarray analysis: summary of 2513 postnatal cases. PLoS One 2(3), e327 (2007)
    • (2007) PLoS One , vol.2 , Issue.3
    • Lu, X.1    Shaw, C.A.2    Patel, A.3
  • 22
    • 33746167778 scopus 로고    scopus 로고
    • Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases
    • Shaffer LG, Kashork CD, Saleki R et al. Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases. J. Pediatr. 149(1), 98-102 (2006)
    • (2006) J. Pediatr. , vol.149 , Issue.1 , pp. 98-102
    • Shaffer, L.G.1    Kashork, C.D.2    Saleki, R.3
  • 27
    • 59449102851 scopus 로고    scopus 로고
    • Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases
    • Van den Veyver IB, Patel A, Shaw CA et al. Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases. Prenat. Diagn. 29(1), 29-39 (2009)
    • (2009) Prenat. Diagn. , vol.29 , Issue.1 , pp. 29-39
    • Van Den Veyver, I.B.1    Patel, A.2    Shaw, C.A.3
  • 29
    • 33751193269 scopus 로고    scopus 로고
    • Diagnostic genome profiling: Unbiased whole genome or targeted analysis?
    • discussion 537-539
    • Veltman JA, de Vries BB. Diagnostic genome profiling: unbiased whole genome or targeted analysis? J. Mol. Diagn. 8(5), 534-537; discussion 537-539 (2006)
    • (2006) J. Mol. Diagn. , vol.8 , Issue.5 , pp. 534-537
    • Veltman, J.A.1    De Vries, B.B.2
  • 30
    • 76349093158 scopus 로고    scopus 로고
    • The impact of human copy number variation on a new era of genetic testing
    • Choy KW, Setlur SR, Lee C, Lau TK. The impact of human copy number variation on a new era of genetic testing. Br. J. Obstet. Gynecol. 117(4), 391-398 (2010)
    • (2010) Br. J. Obstet. Gynecol. , vol.117 , Issue.4 , pp. 391-398
    • Choy, K.W.1    Setlur, S.R.2    Lee, C.3    Lau, T.K.4
  • 34
    • 77950461601 scopus 로고    scopus 로고
    • Origins and functional impact of copy number variation in the human genome
    • Conrad DF, Pinto D, Redon R et al. Origins and functional impact of copy number variation in the human genome. Nature 464(7289), 704-712 (2010)
    • (2010) Nature , vol.464 , Issue.7289 , pp. 704-712
    • Conrad, D.F.1    Pinto, D.2    Redon, R.3
  • 35
    • 31144469134 scopus 로고    scopus 로고
    • Structural variation in the human genome
    • DOI 10.1038/nrg1767, PII NRG1767
    • Feuk L, Carson AR, Scherer SW. Structural variation in the human genome. Nat. Rev. Genet. 7(2), 85-97 (2006) (Pubitemid 43128895)
    • (2006) Nature Reviews Genetics , vol.7 , Issue.2 , pp. 85-97
    • Feuk, L.1    Carson, A.R.2    Scherer, S.W.3
  • 36
    • 34347349069 scopus 로고    scopus 로고
    • Genomic rearrangements and sporadic disease
    • DOI 10.1038/ng2084, PII NG2084
    • Lupski JR. Genomic rearrangements and sporadic disease. Nat. Genet. 39(Suppl. 7), S43-S47 (2007) (Pubitemid 47014475)
    • (2007) Nature Genetics , vol.39 , Issue.SUPPL. 1
    • Lupski, J.R.1
  • 38
    • 0025941775 scopus 로고
    • De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: Clinical significance and distribution of breakpoints
    • Warburton D. De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. Am. J. Hum. Genet. 49(5), 995-1013 (1991) (Pubitemid 21891747)
    • (1991) American Journal of Human Genetics , vol.49 , Issue.5 , pp. 995-1013
    • Warburton, D.1
  • 39
    • 0036789093 scopus 로고    scopus 로고
    • Mechanisms and consequences of somatic mosaicism in humans
    • Youssoufian H, Pyeritz RE. Mechanisms and consequences of somatic mosaicism in humans. Nat. Rev. Genet. 3(10), 748-758 (2002)
    • (2002) Nat. Rev. Genet. , vol.3 , Issue.10 , pp. 748-758
    • Youssoufian, H.1    Pyeritz, R.E.2
  • 40
    • 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 eucromic 1986-1992
    • DOI 10.1002/(SICI)1097-0223(199709)17:9<801::AID-PD153>3.0.CO;2-E
    • Hahnemann JM, Vejerslev LO. Accuracy of cytogenetic findings on chorionic villus sampling (CVS) - diagnostic consequences of CVS mosaicism and non-mosaic discrepancy in centres contributing to EUCROMIC 1986-1992. Prenat. Diagn. 17(9), 801-820 (1997) (Pubitemid 27384796)
    • (1997) Prenatal Diagnosis , vol.17 , Issue.9 , pp. 801-820
    • Hahnemann, J.M.1    Vejerslev, L.O.2
  • 41
    • 0026682553 scopus 로고
    • Cytogenetic results from the U.S. Collaborative Study on CVS
    • Ledbetter DH, Zachary JM, Simpson JL et al. Cytogenetic results from the U.S. Collaborative Study on CVS. Prenat. Diagn. 12(5), 317-345 (1992)
    • (1992) Prenat. Diagn. , vol.12 , Issue.5 , pp. 317-345
    • Ledbetter, D.H.1    Zachary, J.M.2    Simpson, J.L.3
  • 43
    • 55449108848 scopus 로고    scopus 로고
    • Rapid prenatal diagnosis using uncultured amniocytes and oligonucleotide array CGH
    • Bi W, Breman AM, Venable SF et al. Rapid prenatal diagnosis using uncultured amniocytes and oligonucleotide array CGH. Prenat. Diagn. 28(10), 943-949 (2008)
    • (2008) Prenat. Diagn. , vol.28 , Issue.10 , pp. 943-949
    • Bi, W.1    Breman, A.M.2    Venable, S.F.3
  • 44
    • 2442666390 scopus 로고    scopus 로고
    • Comparative genomic hybridization-array analysis enhances the detection of aneuploidies and submicroscopic imbalances in spontaneous miscarriages
    • DOI 10.1086/421250
    • Schaeffer AJ, Chung J, Heretis K, Wong A, Ledbetter DH, Lese Martin C. Comparative genomic hybridization-array analysis enhances the detection of aneuploidies and submicroscopic imbalances in spontaneous miscarriages. Am. J. Hum. Genet. 74(6), 1168-1174 (2004) (Pubitemid 38669315)
    • (2004) American Journal of Human Genetics , vol.74 , Issue.6 , pp. 1168-1174
    • Schaeffer, A.J.1    Chung, J.2    Heretis, K.3    Wong, A.4    Ledbetter, D.H.5    Martin, C.L.6
  • 45
    • 78650967248 scopus 로고    scopus 로고
    • Comparable low-level mosaicism in affected and non affected tissue of a complex CDH patient
    • Veenma D, Beurskens N, Douben H et al. Comparable low-level mosaicism in affected and non affected tissue of a complex CDH patient. PLoS One 5(12), e15348 (2010)
    • (2010) PLoS One , vol.5 , Issue.12
    • Veenma, D.1    Beurskens, N.2    Douben, H.3
  • 46
    • 77955066602 scopus 로고    scopus 로고
    • Mosaic uniparental disomies and aneuploidies as large structural variants of the human genome
    • Rodriguez-Santiago B, Malats N, Rothman N et al. Mosaic uniparental disomies and aneuploidies as large structural variants of the human genome. Am. J. Hum. Genet. 87(1), 129-138 (2010)
    • (2010) Am. J. Hum. Genet. , vol.87 , Issue.1 , pp. 129-138
    • Rodriguez-Santiago, B.1    Malats, N.2    Rothman, N.3
  • 47
    • 77951702768 scopus 로고    scopus 로고
    • Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis
    • Conlin LK, Thiel BD, Bonnemann CG et al. Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. Hum. Mol. Genet. 19(7), 1263-1275 (2010)
    • (2010) Hum. Mol. Genet. , vol.19 , Issue.7 , pp. 1263-1275
    • Conlin, L.K.1    Thiel, B.D.2    Bonnemann, C.G.3
  • 48
    • 37349042458 scopus 로고    scopus 로고
    • Resolution of trisomic mosaicism in prenatal diagnosis: Estimated performance of a 50K SNP microarray
    • DOI 10.1002/pd.1884
    • Cross J, Peters G, Wu Z, Brohede J, Hannan GN. Resolution of trisomic mosaicism in prenatal diagnosis: estimated performance of a 50K SNP microarray. Prenat. Diagn. 27(13), 1197-1204 (2007) (Pubitemid 350305434)
    • (2007) Prenatal Diagnosis , vol.27 , Issue.13 , pp. 1197-1204
    • Cross, J.1    Peters, G.2    Wu, Z.3    Brohede, J.4    Hannan, G.N.5
  • 49
    • 4344625842 scopus 로고    scopus 로고
    • Small supernumerary marker chromosomes (sSMC) in humans
    • DOI 10.1159/000079572
    • Liehr T, Claussen U, Starke H. Small supernumerary marker chromosomes (sSMC) in humans. Cytogenet. Genome Res. 107(1-2), 55-67 (2004) (Pubitemid 39140346)
    • (2004) Cytogenetic and Genome Research , vol.107 , Issue.1-2 , pp. 55-67
    • Liehr, T.1    Claussen, U.2    Starke, H.3
  • 51
    • 34247100199 scopus 로고    scopus 로고
    • Development of a high-density pericentromeric region BAC clone set for the detection and characterization of small supernumerary marker chromosomes by array CGH
    • DOI 10.1097/GIM.0b013e3180312087, PII 0012581720070300000002
    • Ballif BC, Hornor SA, Sulpizio SG et al. Development of a high-density pericentromeric region BAC clone set for the detection and characterization of small supernumerary marker chromosomes by array CGH. Genet. Med. 9(3), 150-162 (2007) (Pubitemid 46597712)
    • (2007) Genetics in Medicine , vol.9 , Issue.3 , pp. 150-162
    • Ballif, B.C.1    Hornor, S.A.2    Sulpizio, S.G.3    Lloyd, R.M.4    Minier, S.L.5    Rorem, E.A.6    Theisen, A.7    Bejjani, B.A.8    Shaffer, L.G.9
  • 52
    • 36148949356 scopus 로고    scopus 로고
    • Identification of origin of unknown derivative chromosomes by array-based comparative genomic hybridization using pre- and postnatal clinical samples
    • DOI 10.1007/s10038-007-0199-1
    • Choe J, Kang JK, Bae CJ et al. Identification of origin of unknown derivative chromosomes by array-based comparative genomic hybridization using pre- and postnatal clinical samples. J. Hum. Genet. 52(11), 934-942 (2007) (Pubitemid 350112489)
    • (2007) Journal of Human Genetics , vol.52 , Issue.11 , pp. 934-942
    • Choe, J.1    Kang, J.-K.2    Bae, C.-J.3    Lee, D.-S.4    Hwang, D.5    Kim, K.-C.6    Park, W.-Y.7    Lee, J.-H.8    Seo, J.-S.9
  • 53
    • 68049117211 scopus 로고    scopus 로고
    • High resolution array analysis: Diagnosing pregnancies with abnormal ultrasound findings
    • Tyreman M, Abbott KM, Willatt LR et al. High resolution array analysis: diagnosing pregnancies with abnormal ultrasound findings. J. Med. Genet. 46(8), 531-541 (2009)
    • (2009) J. Med. Genet. , vol.46 , Issue.8 , pp. 531-541
    • Tyreman, M.1    Abbott, K.M.2    Willatt, L.R.3
  • 54
    • 79951546880 scopus 로고    scopus 로고
    • Identification of incestuous parental relationships by SNP-based DNA microarrays
    • Schaaf CP, Scott DA, Wiszniewska J, Beaudet AL. Identification of incestuous parental relationships by SNP-based DNA microarrays. Lancet 377(9765), 555-556 (2011)
    • (2011) Lancet , vol.377 , Issue.9765 , pp. 555-556
    • Schaaf, C.P.1    Scott, D.A.2    Wiszniewska, J.3    Beaudet, Al.4
  • 58
    • 33748286797 scopus 로고    scopus 로고
    • Genome structural variation and sporadic disease traits
    • DOI 10.1038/ng0906-974, PII NG0906974
    • Lupski JR. Genome structural variation and sporadic disease traits. Nat. Genet. 38(9), 974-976 (2006) (Pubitemid 44325918)
    • (2006) Nature Genetics , vol.38 , Issue.9 , pp. 974-976
    • Lupski, J.R.1
  • 60
    • 34447309023 scopus 로고    scopus 로고
    • A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features
    • DOI 10.1016/j.ejmg.2007.05.001, PII S176972120700050X
    • Kirchhoff M, Bisgaard AM, Duno M, Hansen FJ, Schwartz M. A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features. Eur J. Med. Genet. 50(4), 256-263 (2007) (Pubitemid 47058420)
    • (2007) European Journal of Medical Genetics , vol.50 , Issue.4 , pp. 256-263
    • Kirchhoff, M.1    Bisgaard, A.-M.2    Duno, M.3    Hansen, F.J.4    Schwartz, M.5
  • 74
    • 34347344982 scopus 로고    scopus 로고
    • Major changes in our DNA lead to major changes in our thinking
    • DOI 10.1038/ng2095, PII NG2095
    • Sebat J. Major changes in our DNA lead to major changes in our thinking. Nat. Genet. 39(Suppl. 7), S3-S5 (2007) (Pubitemid 47014478)
    • (2007) Nature Genetics , vol.39 , Issue.SUPPL. 1
    • Sebat, J.1
  • 77
    • 33645778232 scopus 로고    scopus 로고
    • Prenatal detection of unbalanced chromosomal rearrangements by array CGH
    • Rickman L, Fiegler H, Shaw-Smith C et al. Prenatal detection of unbalanced chromosomal rearrangements by array CGH. J. Med. Genet. 43(4), 353-361 (2006)
    • (2006) J. Med. Genet. , vol.43 , Issue.4 , pp. 353-361
    • Rickman, L.1    Fiegler, H.2    Shaw-Smith, C.3
  • 78
    • 73449106142 scopus 로고    scopus 로고
    • Use of array comparative genomic hybridization for prenatal diagnosis of fetuses with sonographic anomalies and normal metaphase karyotype
    • Kleeman L, Bianchi DW, Shaffer LG et al. Use of array comparative genomic hybridization for prenatal diagnosis of fetuses with sonographic anomalies and normal metaphase karyotype. Prenat. Diagn. 29(13), 1213-1217 (2009)
    • (2009) Prenat. Diagn. , vol.29 , Issue.13 , pp. 1213-1217
    • Kleeman, L.1    Bianchi, D.W.2    Shaffer, L.G.3
  • 79
    • 66749178395 scopus 로고    scopus 로고
    • Array comparative genomic hybridization in prenatal diagnosis: Another experience
    • Vialard F, Molina Gomes D, Leroy B et al. Array comparative genomic hybridization in prenatal diagnosis: another experience. Fetal Diagn. Ther. 25(2), 277-284 (2009)
    • (2009) Fetal Diagn. Ther , vol.25 , Issue.2 , pp. 277-284
    • Vialard, F.1    Molina Gomes, D.2    Leroy, B.3
  • 80
    • 77950685423 scopus 로고    scopus 로고
    • A retrospective study by oligonucleotide array-CGH analysis in 50 fetuses with multiple malformations
    • Valduga M, Philippe C, Bach Segura P et al. A retrospective study by oligonucleotide array-CGH analysis in 50 fetuses with multiple malformations. Prenat. Diagn. 30(4), 333-341 (2010)
    • (2010) Prenat. Diagn. , vol.30 , Issue.4 , pp. 333-341
    • Valduga, M.1    Philippe, C.2    Bach Segura, P.3
  • 81
    • 77956117452 scopus 로고    scopus 로고
    • Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis
    • Faas BH, van der Burgt I, Kooper AJ et al. Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis. J. Med. Genet. 47(9), 586-594 (2010)
    • (2010) J. Med. Genet. , vol.47 , Issue.9 , pp. 586-594
    • Faas, B.H.1    Van Der Burgt, I.2    Kooper, A.J.3
  • 82
    • 78650632807 scopus 로고    scopus 로고
    • Additional information from array comparative genomic hybridisation (array CGH) technology over conventional karyotyping in prenatal diagnosis - A systematic review and meta-analysis
    • Hillman SC, Pretlove S, Coomarasamy A et al. Additional information from array comparative genomic hybridisation (array CGH) technology over conventional karyotyping in prenatal diagnosis - a systematic review and meta-analysis. Ultrasound Obstet. Gynecol. 37(1), 6-14 (2011)
    • (2011) Ultrasound Obstet. Gynecol. , vol.37 , Issue.1 , pp. 6-14
    • Hillman, S.C.1    Pretlove, S.2    Coomarasamy, A.3
  • 83
    • 81155160840 scopus 로고    scopus 로고
    • Identification of submicroscopic chromosomal aberrations in fetuses with increased nuchal translucency and an apparently normal karyotype
    • DOI: 10.1002/uog.89882011 Epub ahead of print
    • Leung TY, Vogel I, Lau TK et al. Identification of submicroscopic chromosomal aberrations in fetuses with increased nuchal translucency and an apparently normal karyotype. Ultrasound Obstet. Gynecol. DOI: 10.1002/uog.8988 (2011) (Epub ahead of print)
    • Ultrasound Obstet. Gynecol.
    • Leung, T.Y.1    Vogel, I.2    Lau, T.K.3
  • 84
    • 55449129552 scopus 로고    scopus 로고
    • Comparison of microarray-based detection rates for cytogenetic abnormalities in prenatal and neonatal specimens
    • Shaffer LG, Coppinger J, Alliman S et al. Comparison of microarray-based detection rates for cytogenetic abnormalities in prenatal and neonatal specimens. Prenat. Diagn. 28(9), 789-795 (2008)
    • (2008) Prenat. Diagn. , vol.28 , Issue.9 , pp. 789-795
    • Shaffer, L.G.1    Coppinger, J.2    Alliman, S.3
  • 85
    • 72149094033 scopus 로고    scopus 로고
    • Whole-genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared with targeted microarray
    • Coppinger J, Alliman S, Lamb AN, Torchia BS, Bejjani BA, Shaffer LG. Whole-genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared with targeted microarray. Prenat. Diagn. 29(12), 1156-1166 (2009)
    • (2009) Prenat. Diagn. , vol.29 , Issue.12 , pp. 1156-1166
    • Coppinger, J.1    Alliman, S.2    Lamb, A.N.3    Torchia, B.S.4    Bejjani, B.A.5    Shaffer, L.G.6
  • 88
    • 70349764858 scopus 로고    scopus 로고
    • Array comparative genomic hybridization and flow cytometry analysis of spontaneous abortions and mors in utero samples
    • Menten B, Swerts K, Delle Chiaie B et al. Array comparative genomic hybridization and flow cytometry analysis of spontaneous abortions and mors in utero samples. BMC Med. Genet. 10, 89 (2009)
    • (2009) BMC Med. Genet. , vol.10 , pp. 89
    • Menten, B.1    Swerts, K.2    Delle Chiaie, B.3
  • 89
    • 58849087638 scopus 로고    scopus 로고
    • Genetic analysis of first-trimester miscarriages with a combination of cytogenetic karyotyping, microsatellite genotyping and array CGH
    • Zhang YX, Zhang YP, Gu Y et al. Genetic analysis of first-trimester miscarriages with a combination of cytogenetic karyotyping, microsatellite genotyping and array CGH. Clin. Genet. 75(2), 133-140 (2009)
    • (2009) Clin. Genet , vol.75 , Issue.2 , pp. 133-140
    • Zhang, Y.X.1    Zhang, Y.P.2    Gu, Y.3
  • 90
    • 70349662305 scopus 로고    scopus 로고
    • Diagnosis of miscarriages by molecular karyotyping: Benefits and pitfalls
    • Robberecht C, Schuddinck V, Fryns JP, Vermeesch JR. Diagnosis of miscarriages by molecular karyotyping: benefits and pitfalls. Genet. Med. 11(9), 646-654 (2009)
    • (2009) Genet. Med. , vol.11 , Issue.9 , pp. 646-654
    • Robberecht, C.1    Schuddinck, V.2    Fryns, J.P.3    Vermeesch, J.R.4
  • 91
    • 77949504799 scopus 로고    scopus 로고
    • Genomic changes detected by array CGH in human embryos with developmental defects
    • Rajcan-Separovic E, Qiao Y, Tyson C et al. Genomic changes detected by array CGH in human embryos with developmental defects. Mol. Hum. Reprod. 16(2), 125-134 (2010)
    • (2010) Mol. Hum. Reprod. , vol.16 , Issue.2 , pp. 125-134
    • Rajcan-Separovic, E.1    Qiao, Y.2    Tyson, C.3
  • 92
    • 77958145862 scopus 로고    scopus 로고
    • Identification of copy number variants in miscarriages from couples with idiopathic recurrent pregnancy loss
    • Rajcan-Separovic E, Diego-Alvarez D, Robinson WP et al. Identification of copy number variants in miscarriages from couples with idiopathic recurrent pregnancy loss. Hum. Reprod. 25(11), 2913-2922 (2010)
    • (2010) Hum. Reprod. , vol.25 , Issue.11 , pp. 2913-2922
    • Rajcan-Separovic, E.1    Diego-Alvarez, D.2    Robinson, W.P.3
  • 98
    • 77955100221 scopus 로고    scopus 로고
    • Application of a target array comparative genomic hybridization to prenatal diagnosis
    • Park JH, Woo JH, Shim SH et al. Application of a target array comparative genomic hybridization to prenatal diagnosis. BMC Med. Genet. 11, 102 (2010)
    • (2010) BMC Med. Genet. , vol.11 , Issue.102
    • Park, J.H.1    Woo, J.H.2    Shim, S.H.3
  • 99
    • 73549121749 scopus 로고    scopus 로고
    • ACOG Committee Opinion No. 446: Array comparative genomic hybridization in prenatal diagnosis
    • ACOG
    • ACOG. ACOG Committee Opinion No. 446: array comparative genomic hybridization in prenatal diagnosis. Obstet. Gynecol. 114(5), 1161-1163 (2009)
    • (2009) Obstet. Gynecol. , vol.114 , Issue.5 , pp. 1161-1163
  • 100
    • 33846826988 scopus 로고    scopus 로고
    • Microarray genetic screening: A prenatal roadblock for life?
    • DOI 10.1016/S0140-6736(07)60239-6, PII S0140673607602396
    • Shuster E. Microarray genetic screening: a prenatal roadblock for life? Lancet 369(9560), 526-529 (2007) (Pubitemid 46209318)
    • (2007) Lancet , vol.369 , Issue.9560 , pp. 526-529
    • Shuster, E.1
  • 101
    • 38149038032 scopus 로고    scopus 로고
    • Pre- and postnatal genetic testing by array-comparative genomic hybridization: Genetic counseling perspectives
    • Darilek S, Ward P, Pursley A et al. Pre- and postnatal genetic testing by array-comparative genomic hybridization: genetic counseling perspectives. Genet. Med. 10(1), 13-18 (2008)
    • (2008) Genet. Med. , vol.10 , Issue.1 , pp. 13-18
    • Darilek, S.1    Ward, P.2    Pursley, A.3
  • 102
    • 73449132486 scopus 로고    scopus 로고
    • Chromosomal microarray analysis for prenatal diagnosis: A prospective comparison with conventional cytogenetics
    • Wapner R, Jackson L. Chromosomal microarray analysis for prenatal diagnosis: a prospective comparison with conventional cytogenetics. Prenat. Diagn. 28, S8-S9 (2008)
    • (2008) Prenat. Diagn. , vol.28
    • Wapner, R.1    Jackson, L.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.