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References

  • ACOG Committee. 2009. ACOG Committee Opinion No. 446: array comparative genomic hybridization in prenatal diagnosis. Obstet Gynecol 114:11611163.
  • Association des Cytogénéticiens de Langue Française. 2010. Analyse chromosomique sur puve à AND (ACPA): Guide des bonnes pratiques. Version 1.0. Available at: http://194.167.35.142/anpgm/IMG/arbres_decisionnel/Guide%20des%20bonnes%20pratique%20ACPA%20v1%200.pdf.
  • Bisgaard AM, Kirchhoff M, Nielsen JE, Brandt C, Hove H, Jepsen B, Jensen T, Ullmann R, Skovby F. 2007. Transmitted cytogenetic abnormalities in patients with mental retardation: pathogenic or normal variants? Eur J Med Genet 50:243255.
  • Bui TH, Vetro A, Zuffardi O, Shaffer LG. 2011. Current controversies in prenatal diagnosis 3: is conventional chromosome analysis necessary in the post-array CGH era? Prenat Diagn 31:235243.
  • Chervenak FA, McCullough LB. 2011. Ethical issues in perinatal genetics. Semin Foetal Neonatal Med 16:7073.
  • Chiu RW, Akolekar R, Zheng YW, Leung TY, Sun H, Chan KC, Lun FM, Go AT, Lau ET, To WW, Leung WC, Tang RY, Au-Yeung SK, Lam H, Kung YY, Zhang X, van Vugt JM, Minekawa R, Tang MH, Wang J, Oudejans CB, Lau TK, Nicolaides KH, Lo YM. 2011. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. BMJ 342:c7401. doi:10.1136/bmj.c7401.
  • Chiu RW, Lo YM. 2011. Non-invasive prenatal diagnosis by foetal nucleic acid analysis in maternal plasma: the coming of age. Semin Foetal Neonatal Med 16:8893.
  • Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O, Zhang Y, Aerts J, Andrews TD, Barnes C, Campbell P, Fitzgerald T, Hu M, Ihm CH, Kristiansson K, Macarthur DG, Macdonald JR, Onyiah I, Pang AW, Robson S, Stirrups K, Valsesia A, Walter K, Wei J; Wellcome Trust Case Control Consortium, Tyler-Smith C, Carter NP, Lee C, Scherer SW, Hurles ME. 2010. Origins and functional impact of copy number variation in the human genome. Nature 464:704712.
  • Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, Baker C, Willaims C, Staler H, Hamid R, Hannig V, Abdel-Hamid H, Bader P, McCracken E, Niyazov D, Leppig K, Thiese H, Hummel M, Alexander N, Gorski J, Kussmann J, Shashi V, Johnson K, Rehder C, Ballif BC, Shaffer LG, Eichler EE. 2011. A copy number variation morbidity map of developmental delay. Nat Genet 43:838846.
  • Coppinger J, Alliman S, Lamb AN, Torchia BS, Bejjani BA, Shaffer LG. 2009. Whole-genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targeted microarray. Prenat Diagn 29:11561166.
  • Cox JJ, Willatt L, Homfray T, Woods CG. 2011. A SOX9 duplication and familial 46,XX developmental testicular disorder. N Engl J Med 364:91-93.
  • D'Amours G, Kibar Z, Mathonnet G, Fetni R, Tihy F, Désilets V, Nizard S, Michaud J, Lemyre E. 2012. Whole-genome array CGH identifies pathogenic copy number variations in foetuses with major malformations and a normal karyotype. Clin Genet 81:128141.
  • de Leeuw N, Dijkhuizen T, Hehir-Kwa J, Feuk L, Firth H, Kuhn R, Ledbetter D, Martin C, van Ravenswaaij-Arts C, Shams S, van Vooren S, Swertz M, Sijmons R, Hastings R. 2012. Optimal microarray interpretation using public databases and internet sources. Hum Mutat, in press (this issue).
  • De Ravel TJ, Balikova I, Thienpont B, Hannes F, Maas N, Fryns JP, Devriendt K, Vermeesch JR. 2006. Molecular karyotyping of patients with MCA/MR: the blurred boundary between normal and pathogenic variation. Cytogenet Genome Res 115:225230.
  • Deutsche Gesellschaft für Humangenetik, Berufsverband Deutscher Humangenetiker. 2010. Indikationskriterien und Bewertung der Molekularen Karyotypisierung mittels mikroarray-Analysen für die genetische Diagnostik Konstitutioneller DNA–Veränderungen—Grundlagen zur Einführung der Abrechnung der Molekularen Karyotypisierung mittels Mikroarray-Analyse in den EBM und die GOÄ. Medgen 22:2025.
  • Deutsche Gesellschaft für Humangenetik, Berufsverband Deutscher Humangenetiker. 2011. S2-Leitlinie Humangenetische Diagnostik. Medgen 23:281323.
  • Dondorp W, Sikkema-Raddatz B, de Die-Smulders C, de Wert G. 2012. Arrays in postnatal and prenatal diagnosis. An exploration of the ethics of consent. Hum Mutat, in press (this issue).
  • Evans C. 2006. Genetic counseling, a psychological approach. Cambridge, UK: Cambridge University Press. p 204.
  • Faas BH, van der Burgt I, Kooper AJ, Pfundt R, Hehir-Kwa JY, Smits AP, de Leeuw N. 2010. Identification of clinically significant, submicroscopic chromosome alterations and UPD in foetuses with ultrasound anomalies using genome-wide 250k SNP array analysis. J Med Genet 47:586594.
  • Friedman JM. 2009. High-resolution array genomic hybridization in prenatal diagnosis. Prenat Diagn 29:2028.
  • Girirajan S, Eichler EE. 2010. Phenotypic variability and genetic susceptibility to genomic disorders. Hum Mol Genet 19:R176R187.
  • Girirajan S, Rosenfeld JA, Cooper GM, Antonacci F, Siswara P, Itsara A, Vives L, Walsh T, McCarthy SE, Baker C, Mefford HC, Kidd JM, Browning SR, Browning BL, Dickel DE, Levy DL, Ballif BC, Platky K, Farber DM, Gowans GC, Wetherbee JJ, Asamoah A, Weaver DD, Mark PR, Dickerson J, Garg BP, Ellingwood SA, Smith R, Banks VC, Smith W, McDonald MT, Hoo JJ, French BN, Hudson C, Johnson JP, Ozmore JR, Moeschler JB, Surti U, Escobar LF, El-Khechen D, Gorski JL, Kussmann J, Salbert B, Lacassie Y, Biser A, McDonald-McGinn DM, Zackai EH, Deardorff MA, Shaikh TH, Haan E, Friend KL, Fichera M, Romano C, Gécz J, DeLisi LE, Sebat J, King MC, Shaffer LG, Eichler EE. 2010. A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet 42:203209.
  • Harris RA, Washington AE, Nease RF, Kuppermann M. 2004. Cost utility of prenatal diagnosis and the risk-based threshold. Lancet 363:276282.
  • Hastings R, Howell R, Dagna Bricarelli F, Kristoffersson U, Cavani S. 2012. ECA European Cytogenetic Guidelines: General Guidelines and Quality Assurance for Cytogenetics v2. Available at: http://e-c-a.eu/files/downloads/E.C.A._General_Guidelines_Version%202.0.pdf.
  • Hillman SC, Pretlove S, Coomarasamy A, McMullan DJ, Davison EV, Maher ER, Kilby MD. 2011. Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta-analysis. Ultrasound Obstet Gynecol 37:614.
  • Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, Qi Y, Scherer SW, Lee C. 2004. Detection of large-scale variation in the human genome. Nat Genet 36:949951.
  • Kagami M, O'Sullivan MJ, Green AJ, Watabe Y, Arisaka O, Masawa N, Matsuoka K, Fukami M, Matsubara K, Kato F, Ferguson-Smith AC, Ogata T. 2010. The IG-DMR and the MEG3-DMR at human chromosome 14q32.2: hierarchical interaction and distinct functional properties as imprinting control centers. PLoS Genet 6:e1000992.
  • Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De Luca D, Moreno-De Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, Shetty S, Rossi MR, Rudd MK, South ST, Brothman AR, Sanger WG, Iyer RK, Crolla JA, Thorland EC, Aradhya S, Ledbetter DH, Martin CL. 2011. An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. Genet Med 13:777784.
  • Kleeman L, Bianchi DW, Shaffer LG, Rorem E, Cowan J, Craigo SD, Tighiouart H, Wilkins-Haug LE. 2009. Use of array comparative genomic hybridization for prenatal diagnosis of foetuses with sonographic anomalies and normal metaphase karyotype. Prenat Diagn 29:12131217.
  • Le Caignec C, Boceno M, Saugier-Veber P, Jacquemont S, Joubert M, David A, Frebourg T, Rival JM. 2005. Detection of genomic imbalances by array based comparative genomic hybridisation in foetuses with multiple malformations. J Med Genet 42:121128.
  • Lesnik Oberstein SA, Kriek M, White SJ, Kalf ME, Szuhai K, den Dunnen JT, Breuning MH, Hennekam RC. 2006. Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. Am J Hum Genet 79:562566.
  • Lichtenbelt KD, Knoers NVAM, Schuring-Blom GH. 2011. From karyotyping to array-CGH in prenatal diagnosis. Cytogenet Genome Res 135:241250.
  • Mencarelli MA, Katzaki E, Papa FT, Sampieri K, Caselli R, Uliana V, Pollazzon M, Canitano R, Mostardini R, Grosso S, Longo I, Ariani F, Meloni I, Hayek J, Balestri P, Mari F, Renieri A. 2008. Private inherited microdeletion/microduplications: implications in clinical practice. Eur J Med Genet 51:409416.
  • Ogilvie CM, Yaron Y, Beaudet AL. 2009. Current controversies in prenatal diagnosis 3: for prenatal diagnosis, should we offer less or more than metaphase karyotyping? Prenat Diagn 29:1114.
  • Papageorgiou EA, Karagrigoriou A, Tsaliki E, Velissariou V, Carter NP, Patsalis PC. 2011. Foetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21. Nat Med 17:510513.
  • Park JH, Woo JH, Shim SH, Yang SJ, Choi YM, Yang KS, Cha DH. 2010. Application of a target array comparative genomic hybridization to prenatal diagnosis. BMC Med Genet 11:102.
  • Pichert G, Mohammed SN, Ahn JW, Ogilvie CM, Izatt L. 2011. Unexpected findings in cancer predisposition genes detected by array comparative genomic hybridization: what are the issues? J Med Genet 48:535539.
  • Sahoo T, Cheung SW, Ward P, Danlek S, Patel A, del Gaudio D, Kang SH, Lalani SR, Li J, McAdoo S, Burke A, Shaw CA, Stankiewicz P, Chinault AC, van den Veyver IB, Roa BB, Beaudet AL, Eng CM. 2006. Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization. Genet Med 8:719727.
  • Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, Walsh T, Yamrom B, Yoon S, Krasnitz A, Kendall J, Leotta A, Pai D, Zhang R, Lee YH, Hicks J, Spence SJ, Lee AT, Puura K, Lehtimäki T, Ledbetter D, Gregersen PK, Bregman J, Sutcliffe JS, Jobanputra V, Chung W, Warburton D, King MC, Skuse D, Geschwind DH, Gilliam TC, Ye K, Wigler M. 2007. Strong association of de novo copy number mutations with autism. Science 316:445449.
  • Sebat J, Lakshmi B, Troge J, Alexander J, Young J, Lundin P, Månér S, Massa H, Walker M, Chi M, Navin N, Lucito R, Healy J, Hicks J, Ye K, Reiner A, Gilliam TC, Trask B, Patterson N, Zetterberg A, Wigler M. 2004. Large-scale copy number polymorphism in the human genome. Science 305:525528.
  • Shaffer LG, Coppinger J, Alliman S, Torchia BA, Theisen A, Ballif BC, Bejjani BA. 2008. Comparison of microarray-based detection rates for cytogenetic abnormalities in prenatal and neonatal specimens. Prenat Diagn 28:789795.
  • Sijmons RH, Van Langen IM, Sijmons JG. 2011. A clinical perspective on ethical issues in genetic testing. Acc Res 18:148162.
  • Srebniak M, Boter M, Oudesluijs G, Joosten M, Govaerts L, Van Opstal D, Galjaard RJ. 2011. Application of SNP array for rapid prenatal diagnosis: implementation, genetic counseling and diagnostic flow. Eur J Hum Genet 19:12301237.
  • Stankiewicz P, Beaudet AL. 2007. Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation. Curr Opin Genet Dev 17:182192.
  • Strassberg M, Fruhman G, Van den Veyver IB. 2011. Copy-number changes in prenatal diagnosis. Expert Rev Mol Diagn 11:579592.
  • Valduga M, Philippe C, Bach Segura P, Thiebaugeorges O, Miton A, Beri M Bonnet C, Nemos C, Foliguet B, Jonveaux P. 2010. A retrospective study by oligonucleotide array-CGH analysis in 50 foetuses with multiple malformations. Prenat Diagn 30:333341.
  • Van den Veyver IB, Patel A, Shaw CA, Pursley AN, Kang SH, Simovich MJ, Ward PA, Darilek S, Johnson A, Neill SE, Bi W, White LD, Eng CM, Lupski JR, Cheung SW, Beaudet AL. 2009. Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases. Prenat Diagn 29:2939.
  • Vermeesch J, Sanlaville D, Kok K, Hastings RJ. 2012. Quality criteria and platforms to be used in routine diagnostics. Hum Mutat, in press (this issue).
  • Vermeesch JR, Balikova I, Schrander-Stumpel C, Fryns JP, Devriendt K. 2011. The causality of de novo copy number variants is overestimated. Eur J Hum Genet 19:11121113.
  • Vetro A, Ciccone R, Giorda R, Patricelli MG, Della Mina E, Forlino A, Zuffardi O. 2011. XX males SRY negative: a confirmed cause of infertility. J Med Genet 48:710712.
  • Xu B, Roos JL, Levy S, van Rensburg EJ, Gogos JA, Karayiorgou M. 2008. Strong association of de novo copy number mutations with sporadic schizophrenia. Nat Genet 40:880885.
  • Zuffardi O, Vetro A, Brady P, Vermeesch J. 2011. Array technology in prenatal diagnosis. Semin Foetal Neonatal Med 16:9498.