Guides de Bonnes Pratiques Internationaux
Recommendations for reporting results of diagnostic genomic testing
Deans ZC, Ahn JW, Carreira IM, Dequeker E, Henderson M, Lovrecic L, Õunap K, Tabiner M, Treacy R, van Asperen CJ.
Eur J Hum Genet. 2022 Sep;30(9):1011-1016. doi: 10.1038/s41431-022-01091-0
Chromosomal microarray analysis, including constitutional and neoplastic disease applications 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Shao L, Akkari Y, Cooley LD, Miller DT, Seifert BA, Wolff DJ, Mikhail FM; ACMG Laboratory Quality Assurance Committee.
Genet Med. 2021 Oct;23(10):1818-1829
Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)
Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL
Genet Med. 2020 Feb;22(2):245-257
European guidelines for constitutional cytogenomic analysis
Silva M, de Leeuw N, Mann K, Schuring-Blom H, Morgan S, Giardino D, Rack K, Hastings R
Eur J Hum Genet. 2019 Jan;27(1):1-16
On-Behalf-Of the Canadian College of Medical Geneticists. Practice guideline: joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada
Armour CM, Dougan SD, Brock JA, Chari R, Chodirker BN, DeBie I, Evans JA, Gibson WT, Kolomietz E, Nelson TN, Tihy F, Thomas MA, Stavropoulos DJ
J Med Genet. 2018 Apr;55(4):215-221
The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations
Muys J, Blaumeiser B, Jacquemyn Y, Bandelier C, Brison N, Bulk S, Chiarappa P, Courtens W, De Leener A, De Rademaeker M, Désir J, Destrée A, Devriendt K, Dheedene A, Fieuw A, Fransen E, Gatot JS, Holmgren P, Jamar M, Janssens S, Keymolen K, Lederer D, Menten B, Meuwissen M, Parmentier B, Pichon B, Rombout S, Sznajer Y, Van Den Bogaert A, Van Den Bogaert K, Vanakker O, Vermeesch J, Janssens K
Prenat Diagn. 2018 Dec;38(13):1120-1128
What's New in Prenatal Genetics? A Review of Current Recommendations and Guidelines
Post AL, Mottola AT, Kuller JA
Obstet Gynecol Surv. 2017 Oct;72(10):610-617
Microarrays and Next-Generation Sequencing technology: the use of advanced genetic diagnostic tools in obstetrics and gynecology
The American College of Obstetricians and Gynecologists, Society for Maternal-Fetal Medicine
Number 682, December 2016
On behalf of the Joint Committee on Genomics in Medicine. Recommendations for the use of chromosome microarray in pregnancy Registered charity in England and Wales
The Royal College of Pathologists and Obstetricians and Gynaecologists
No. 261035, 2015
European Society of Human Genetics.Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic)
Claustres M, Kožich V, Dequeker E, Fowler B, Hehir-Kwa JY, Miller K, Oosterwijk C, Peterlin B, van Ravenswaaij-Arts C, Zimmermann U, Zuffardi O, Hastings RJ, Barton DE; European Society of Human
Eur J Hum Genet. 2014 Feb;22(2):160-70
Offering prenatal diagnostic tests: European guidelines for clinical practice `{`corrected`}`
Skirton H, Goldsmith L, Jackson L, Lewis C, Chitty L
Eur J Hum Genet. 2014 May;22(5):580-6. Erratum in: Eur J Hum Genet. 2014 May;22(5):714
Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges
Vanakker O, Vilain C, Janssens K, Van der Aa N, Smits G, Bandelier C, Blaumeiser B, Bulk S, Caberg JH, De Leener A, De Rademaeker M, de Ravel T, Desir J, Destree A, Dheedene A, Gaillez S, Grisart B, Hellin AC, Janssens S, Keymolen K, Menten B, Pichon B, Ravoet M, Revencu N, Rombout S, Staessens C, Van Den Bogaert A, Van Den Bogaert K, Vermeesch JR, Kooy F, Sznajer Y, Devriendt K
Eur J Med Genet. 2014 Mar;57(4):151-6
Working Group for the American College of Medical Genetics and Genomics Laboratory Quality Assurance Committee. ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013
South ST, Lee C, Lamb AN, Higgins AW, Kearney HM
Genet Med. 2013 Nov;15(11):901-9
The use of chromosomal microarray analysis in prenatal diagnosis
The American College of Obstetricians and Gynecologists, Society for Maternal-Fetal Medicine
Number 581, December 2013
Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU)
Novelli A, Grati FR, Ballarati L, Bernardini L, Bizzoco D, Camurri L, Casalone R, Cardarelli L, Cavalli P, Ciccone R, Clementi M, Dalprà L, Gentile M, Gelli G, Grammatico P, Malacarne M, Nardone AM, Pecile V, Simoni G, Zuffardi O, Giardino D
Ultrasound Obstet Gynecol. 2012 Apr;39(4):384-8
E.C.A. - European Cytogeneticists Association: General Guidelines and Quality Assurance for Cytogenetics
No.29, January 2012
SOGC Genetics Committee; CCMG Prenatal Diagnosis Committee. Use of array genomic hybridization technology in prenatal diagnosis in Canada
Duncan A, Langlois S
J Obstet Gynaecol Can. 2011 Dec;33(12):1256-9
Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee. American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants
Kearney HM, Thorland EC, Brown KK, Quintero-Rivera F, South ST
Genet Med. 2011 Jul;13(7):680-5
Working Group of the American College of Medical Genetics. American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities
Kearney HM, South ST, Wolff DJ, Lamb A, Hamosh A, Rao KW
Genet Med. 2011 Jul;13(7):676-9
Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities
Manning M, Hudgins L
Genet Med. 2010 Nov;12(11):742-5