{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T01:03:49Z","timestamp":1778202229126,"version":"3.51.4"},"reference-count":14,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2020,5,29]],"date-time":"2020-05-29T00:00:00Z","timestamp":1590710400000},"content-version":"vor","delay-in-days":149,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"European Society of Human Reproduction and Embryology"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,3,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>The field of preimplantation genetic testing (PGT) is evolving fast and best practice advice is essential for regulation and standardisation of diagnostic testing. The previous ESHRE guidelines on best practice for PGD, published in 2005 and 2011, are considered outdated, and the development of new papers outlining recommendations for good practice in PGT was necessary.<\/jats:p>\n               <jats:p>The current paper provides recommendations on the technical aspects of PGT for monogenic\/single-gene defects (PGT-M) and covers recommendations on basic methods for PGT-M and testing strategies. Furthermore, some specific recommendations are formulated for special cases, including de novo pathogenic variants, consanguineous couples, HLA typing, exclusion testing and disorders caused by pathogenic variants in the mitochondrial DNA. This paper is one of a series of four papers on good practice recommendations on PGT. The other papers cover the organisation of a PGT centre, embryo biopsy and tubing and the technical aspects of PGT for chromosomal structural rearrangements\/aneuploidies.<\/jats:p>\n               <jats:p>Together, these papers should assist scientists interested in PGT in developing the best laboratory and clinical practice possible.<\/jats:p>","DOI":"10.1093\/hropen\/hoaa018","type":"journal-article","created":{"date-parts":[[2020,3,9]],"date-time":"2020-03-09T20:21:40Z","timestamp":1583785300000},"source":"Crossref","is-referenced-by-count":119,"title":["ESHRE PGT Consortium good practice recommendations for the detection of monogenic disorders\u2020"],"prefix":"10.1093","volume":"2020","author":[{"name":"ESHRE PGT-M Working Group","sequence":"first","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9546-4614","authenticated-orcid":false,"given":"Filipa","family":"Carvalho","sequence":"first","affiliation":[{"name":"Genetics \u2013 Department of Pathology, Faculty of Medicine, University of Porto, Porto, Portugal"},{"name":"i3s \u2013 Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade, University of Porto, Porto, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0094-3300","authenticated-orcid":false,"given":"C\u00e9line","family":"Moutou","sequence":"first","affiliation":[{"name":"Universit\u00e9 de Strasbourg, Strasbourg, France"},{"name":"Laboratoire de Diagnostic Pr\u00e9implantatoire, H\u00f4pitaux Universitaires de Strasbourg, Schiltigheim, France"}]},{"given":"Eftychia","family":"Dimitriadou","sequence":"first","affiliation":[{"name":"Department of Human Genetics, Center for Human Genetics, University Hospitals Leuven, KU Leuven, O&N I Herestraat 49, Leuven, Belgium"}]},{"given":"Jos","family":"Dreesen","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands"},{"name":"School for Oncology and Developmental Biology, GROW, Maastricht University, Maastricht, The Netherlands"}]},{"given":"Carles","family":"Gim\u00e9nez","sequence":"first","affiliation":[{"name":"Reprogenetics, Barcelona, Catalunya, Spain"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9342-2143","authenticated-orcid":false,"given":"Veerle","family":"Goossens","sequence":"first","affiliation":[{"name":"ESHRE Central Office, Grimbergen, Belgium"}]},{"given":"Georgia","family":"Kakourou","sequence":"first","affiliation":[{"name":"National and Kapodistrian University of Athens, Athens, Greece"},{"name":"Department of Medical Genetics, \u2018Aghia Sophia\u2019 Children\u2019s Hospital, Athens, Greece"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8046-6799","authenticated-orcid":false,"given":"Nathalie","family":"Vermeulen","sequence":"first","affiliation":[{"name":"ESHRE Central Office, Grimbergen, Belgium"}]},{"given":"Daniela","family":"Zuccarello","sequence":"first","affiliation":[{"name":"Department of Lab Medicine, Unit of Clinical Genetics and 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