{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,4]],"date-time":"2025-10-04T08:04:22Z","timestamp":1759565062209},"reference-count":7,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"5","license":[{"start":{"date-parts":[[2019,9,1]],"date-time":"2019-09-01T00:00:00Z","timestamp":1567296000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background:<\/jats:title>\n            <jats:p>Huntington disease (HD) is an autosomal dominant late-onset neurodegenerative disease caused by an unstable cytosine-adenine-guanine trinucleotide repeat expansion in the huntingtin (<jats:italic toggle=\"yes\">HTT<\/jats:italic>) gene. Preimplantation genetic testing (PGT) is a diagnostic procedure available for these individuals, because they carry a high risk of transmitting this genetic condition to their offspring.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods:<\/jats:title>\n            <jats:p>Information about 15 HD couples referred for PGT and 21 cycles performed from 2009 to 2018 was collected retrospectively. PGT provide direct testing of embryos obtained after intracytoplasmic sperm injection, using polymerase chain reaction multiplex as the genetic testing protocol.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results:<\/jats:title>\n            <jats:p>PGT for HD was performed in 15 couples, with no history of previous attempts, in a total of 21 cycles. The mean number of biopsied embryos per cycle was 4.9. The amplification efficiency in blastomeres was 87.4%. From the 90 amplified embryos, 32 were normal and suitable for transfer. The mean number of transferred embryos per couple was 1.2.<\/jats:p>\n            <jats:p>Overall, 3 positive human chorionic gonadotropin tests were obtained in 3 couples, resulting in 2 clinical pregnancies. The 2 ongoing clinical pregnancies had normal evolution, and culminated in 2 deliveries, resulting in the birth of 2 healthy children.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions:<\/jats:title>\n            <jats:p>PGT for HD is considered an effective and safe reproductive option for couples who are at risk of transmitting HD, when proper genetic and reproductive counseling is warranted.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1097\/j.pbj.0000000000000048","type":"journal-article","created":{"date-parts":[[2019,9,5]],"date-time":"2019-09-05T10:01:29Z","timestamp":1567677689000},"page":"e48","source":"Crossref","is-referenced-by-count":2,"title":["Preimplantation genetic testing for Huntington disease: the perspective of one Portuguese center"],"prefix":"10.1097","volume":"4","author":[{"given":"Diogo","family":"Ferreira","sequence":"first","affiliation":[{"name":"Servi\u00e7o de Gen\u00e9tica, Departamento de Patologia, Faculdade de Medicina, University of Porto"}]},{"given":"Berta","family":"Carvalho","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Gen\u00e9tica, Departamento de Patologia, Faculdade de Medicina, University of Porto"},{"name":"Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade, i3s, Universidade do Porto"}]},{"given":"Ana P.","family":"Neto","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Gen\u00e9tica, Departamento de Patologia, Faculdade de Medicina, University of Porto"},{"name":"Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade, i3s, Universidade do Porto"}]},{"given":"Joaquina","family":"Silva","sequence":"additional","affiliation":[{"name":"Centro de Gen\u00e9tica da Reprodu\u00e7\u00e3o A. Barros"}]},{"given":"Ana M.","family":"P\u00f3voa","sequence":"additional","affiliation":[{"name":"Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade, i3s, Universidade do Porto"},{"name":"Departamento de Ginecologia-Obstetr\u00edcia e Pediatria, Faculdade de Medicina, Servi\u00e7o de Ginecologia e Obst\u00e9tricia, Centro Hospitalar Universit\u00e1rio S. Jo\u00e3o, Universidade do Porto, Porto, Portugal."}]},{"given":"Alberto","family":"Barros","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Gen\u00e9tica, Departamento de Patologia, Faculdade de Medicina, University of Porto"},{"name":"Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade, i3s, Universidade do Porto"},{"name":"Centro de Gen\u00e9tica da Reprodu\u00e7\u00e3o A. Barros"}]},{"given":"Filipa","family":"Carvalho","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Gen\u00e9tica, Departamento de Patologia, Faculdade de Medicina, University of Porto"},{"name":"Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade, i3s, Universidade do Porto"}]}],"member":"276","published-online":{"date-parts":[[2019,9]]},"reference":[{"key":"R1-20230824","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1007\/s12035-015-9662-8","article-title":"Huntington's disease: relationship between phenotype and genotype","volume":"54","author":"Sun","year":"2017","journal-title":"Mol Neurobiol."},{"key":"R2-20230824","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1016\/B978-0-12-381328-2.00013-4","article-title":"Huntington's disease: clinical presentation and treatment","volume":"98","author":"Novak","year":"2011","journal-title":"Int Rev Neurobiol."},{"key":"R3-20230824","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1038\/ejhg.2011.202","article-title":"Preimplantation genetic diagnosis (PGD) for Huntington's disease: the experience of three European centres","volume":"20","author":"Van Rij","year":"2012","journal-title":"Eur J Hum Genet."},{"key":"R5-20230824","doi-asserted-by":"crossref","first-page":"987","DOI":"10.20344\/amp.1417","article-title":"Diagn\u00f3stico gen\u00e9tico pr\u00e9-implanta\u00e7\u00e3o \u2013 aspectos t\u00e9cnicos e considera\u00e7\u00f5es \u00e9ticas","volume":"24","author":"Teles","year":"2011","journal-title":"Acta Med Port."},{"key":"R6-20230824","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1093\/humupd\/dms058","article-title":"Reproductive options for prospective parents in families with Huntington's disease: clinical, psychological and ethical reflections","volume":"19","author":"De Die-Smulders","year":"2013","journal-title":"Hum Reprod Update."},{"key":"R7-20230824","doi-asserted-by":"crossref","first-page":"1974","DOI":"10.1093\/humrep\/dex265","article-title":"ESHRE PGD Consortium data collection XIV-XV: cycles from January 2011 to December 2012 with pregnancy follow-up to October 2013","volume":"32","author":"De Rycke","year":"2017","journal-title":"Hum Reprod."},{"key":"R8-20230824","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1111\/cge.12089","article-title":"The uptake and outcome of prenatal and pre-implantation genetic diagnosis for Huntington's disease in the Netherlands (1998\u20132008)","volume":"85","author":"Van Rij","year":"2014","journal-title":"Clin Genet."}],"container-title":["Porto Biomedical Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.lww.com\/10.1097\/j.pbj.0000000000000048","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,24]],"date-time":"2023-08-24T01:54:03Z","timestamp":1692842043000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.lww.com\/10.1097\/j.pbj.0000000000000048"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,9]]},"references-count":7,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2019]]}},"URL":"https:\/\/doi.org\/10.1097\/j.pbj.0000000000000048","relation":{},"ISSN":["2444-8664"],"issn-type":[{"value":"2444-8664","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,9]]}}}