{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,11]],"date-time":"2023-09-11T09:11:06Z","timestamp":1694423466653},"reference-count":16,"publisher":"FapUNIFESP (SciELO)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Einstein (S\u00e3o Paulo)"],"published-print":{"date-parts":[[2015,3]]},"abstract":"<jats:p>Cystic fibrosis is an autosomal recessive disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator gene. This disorder produces a variable phenotype including lung disease, pancreatic insufficiency, and meconium ileus plus bilateral agenesis of the vas deferens causing obstructive azoospermia and male infertility. Preimplantation genetic diagnosis is an alternative that allows identification of embryos affected by this or other genetic diseases. We report a case of couple with cystic fibrosis; the woman had the I148 T mutation and the man had the Delta F508 gene mutation. The couple underwent in vitro fertilization, associated with preimplantation genetic diagnosis, and with subsequent selection of healthy embryos for uterine transfer. The result was an uneventful pregnancy and delivery of a healthy male baby.<\/jats:p>","DOI":"10.1590\/s1679-45082015rc2738","type":"journal-article","created":{"date-parts":[[2015,5,8]],"date-time":"2015-05-08T20:48:36Z","timestamp":1431118116000},"page":"110-113","source":"Crossref","is-referenced-by-count":1,"title":["Preimplantation genetic diagnosis for cystic fibrosis: a case report"],"prefix":"10.1590","volume":"13","author":[{"given":"Maria Cristina Santoro","family":"Biazotti","sequence":"first","affiliation":[{"name":"Hospital Israelita Albert Einstein,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Walter","family":"Pinto Junior","sequence":"additional","affiliation":[{"name":"Universidade Estadual de Campinas,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Cec\u00edlia Romano Maciel de","family":"Albuquerque","sequence":"additional","affiliation":[{"name":"Centro Cochrane do Brasil,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Litsuko Shimabukuro","family":"Fujihara","sequence":"additional","affiliation":[{"name":"Centro de Reprodu\u00e7\u00e3o Humana Fertivitro,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cl\u00e1udia Haru","family":"Suganuma","sequence":"additional","affiliation":[{"name":"Centro de Medicina Reprodutiva,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renata Bednar","family":"Reigota","sequence":"additional","affiliation":[{"name":"Universidade Estadual de Campinas,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmen S\u00edlvia","family":"Bertuzzo","sequence":"additional","affiliation":[{"name":"Universidade Estadual de Campinas,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"530","reference":[{"key":"ref1","series-title":"Preimplantation Genetic Diagnosis","author":"Harper J","year":"2009","edition":"2a"},{"issue":"6","key":"ref2","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1093\/humupd\/dmm024","article-title":"Intracytoplasmic sperm injection (ICSI) in 2006: evidence and evolution","volume":"13","year":"2007","journal-title":"Hum Reprod Update"},{"issue":"5","key":"ref3","doi-asserted-by":"crossref","first-page":"1203","DOI":"10.1016\/j.fertnstert.2013.01.112","article-title":"Next-generation sequencing for preimplantation genetic diagnosis","volume":"99","author":"Simpson JL","year":"2013","journal-title":"Fertil Steril"},{"issue":"4","key":"ref4","doi-asserted-by":"crossref","first-page":"1054","DOI":"10.1016\/j.fertnstert.2013.02.001","article-title":"The impact of next-generation sequencing technology on preimplantation genetic diagnosis and screening","volume":"99","author":"Mart\u00edn J","year":"2013","journal-title":"Fertil Steril"},{"issue":"1","key":"ref5","article-title":"Microarray-based comparative genomic hybridization (aCGH)","volume":"1","author":"Theisen A","year":"2008","journal-title":"Nature Educ"},{"issue":"6268","key":"ref6","doi-asserted-by":"crossref","first-page":"768","DOI":"10.1038\/344768a0","article-title":"Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification","volume":"344","author":"Handyside AH","year":"1990","journal-title":"Nature"},{"issue":"1","key":"ref7","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1093\/humrep\/dei292","article-title":"ESHRE PGD Consortium data collection V: cycles from January to December 2002 with pregnancy follow-up to October 2003","volume":"21","author":"Harper JC","year":"2006","journal-title":"Hum Reprod"},{"issue":"5","key":"ref8","doi-asserted-by":"crossref","first-page":"1443","DOI":"10.1093\/humrep\/del506","article-title":"Blastocyst biopsy versus cleveage stage biopsy and blastocyst transfer for preimplantation genetic diagnosis of beta-thalassaemia: a pilot study","volume":"22","author":"Kokkali G","year":"2007","journal-title":"Hum Reprod"},{"issue":"6","key":"ref9","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1093\/molehr\/gah176","article-title":"Multiple mutation analysis of the cystic fibrosis gene in single cells","volume":"11","author":"S\u00e1nchez-Garc\u00eda JF","year":"2005","journal-title":"Mol Hum Reprod"},{"issue":"2","key":"ref10","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1159\/000029497","article-title":"Genotype and phenotype in cystic fibrosis","volume":"67","author":"Zielenski J","year":"2000","journal-title":"Respiration"},{"issue":"6","key":"ref11","doi-asserted-by":"crossref","first-page":"536","DOI":"10.1111\/j.1479-828X.2011.01348.x","article-title":"CFTR mutation screening in an assisted reproductive clinic","volume":"51","author":"Field PD","year":"2011","journal-title":"Aust N Z J Obstet Gynaecol"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1111\/j.1439-0272.2011.01193.x","article-title":"Screening of \u0394F508 mutation and IVS8-poly T polymorphism in CFTR gene in Tunisian infertile men without CBAVD","volume":"44","author":"Ghorbel M","year":"2012","journal-title":"Andrologia"},{"issue":"3","key":"ref13","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1007\/s10815-010-9514-4","article-title":"Case report: birth of healthy twins after preimplantation genetic diagnosis of propionic acidemia","volume":"28","author":"Alberola TM","year":"2011","journal-title":"J Assist Reprod Genet"},{"issue":"4","key":"ref14","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1007\/s10815-012-9728-8","article-title":"First successful preimplantation genetic diagnosis of epidermolysis bullosa with pyloric atresia: case study of a novel c.4505-4508insACTC mutation","volume":"29","author":"Ozge A","year":"2012","journal-title":"J Assist Reprod Genet"},{"issue":"11","key":"ref15","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1007\/s10815-010-9461-0","article-title":"The effects of different laser pulse lengths on the embryo biopsy procedure and embryo development to the blastocyst stage","volume":"27","author":"Taylor TH","year":"2010","journal-title":"J Assist Reprod Genet"},{"issue":"7","key":"ref16","doi-asserted-by":"crossref","first-page":"752","DOI":"10.1038\/sj.ejhg.5201834","article-title":"Clinical outcome of preimplantation genetic diagnosis for cystic fibrosis: the Brussels\u2019 experience","volume":"15","author":"Keymolen K","year":"2007","journal-title":"Eur J Hum Genet"}],"container-title":["Einstein (S\u00e3o Paulo)"],"original-title":[],"link":[{"URL":"http:\/\/www.scielo.br\/pdf\/eins\/v13n1\/1679-4508-eins-13-1-110.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,5,23]],"date-time":"2017-05-23T00:28:50Z","timestamp":1495499330000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.scielo.br\/scielo.php?script=sci_arttext&pid=S1679-45082015000100019&lng=en&tlng=en"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,3]]},"references-count":16,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2015,3]]}},"alternative-id":["S1679-45082015000100019"],"URL":"https:\/\/doi.org\/10.1590\/s1679-45082015rc2738","relation":{},"ISSN":["1679-4508"],"issn-type":[{"value":"1679-4508","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,3]]}}}