{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,12]],"date-time":"2026-04-12T08:03:06Z","timestamp":1775980986287,"version":"3.50.1"},"reference-count":0,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2017,2,22]],"date-time":"2017-02-22T00:00:00Z","timestamp":1487721600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2017,2,22]],"date-time":"2017-02-22T00:00:00Z","timestamp":1487721600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Gynecol Obstet Invest"],"published-print":{"date-parts":[[2018]]},"abstract":"<b><i>Background\/Aims:<\/i><\/b> The study aimed to investigate the impact of fragile X mental retardation 1 (<i>FMR1<\/i>) pre-mutation status on blastocyst development in patients undergoing pre-implantation genetic diagnosis (PGD). <b><i>Methods:<\/i><\/b> Case-control study of patients <40 years undergoing PGD at blastocyst stage for <i>FMR1<\/i> pre-mutation status. Age-matched patients undergoing PGD for other single gene disorders were considered controls. Blastocyst development, calculated per metaphase II (MII) oocyte retrieved and per 2 pronuclear (2PN) embryos, was compared between the 2 groups. Pregnancy outcomes after embryo transfer were also compared. <b><i>Results:<\/i><\/b> Eighty-one and 791 patients were included in the <i>FMR1<\/i> and control groups, respectively. <i>FMR1 <\/i>pre-mutation carriers had lower indicators of ovarian reserve, required higher gonadotropin doses, and had fewer MII oocytes retrieved. Mean blastocyst development per MII oocyte (12.6 vs. 29.4%; <i>p<\/i> < 0.001) and per 2PN embryos (21.5 vs. 41.7%; <i>p<\/i> < 0.001) was lower in the <i>FMR1 <\/i>group. An inverse correlation between the number of <i>FMR1<\/i> CGG repeats and blastocyst development per MII oocyte (&#x03C1; = -0.63; <i>p<\/i> < 0.001) was observed. There was no difference in the rates of clinical pregnancy, spontaneous abortion, or live birth among the groups. <b><i>Conclusion:<\/i><\/b> Our study suggests lower rates of blastocyst development in patients with <i>FMR1 <\/i>pre-mutation status and an inverse correlation between the number of <i>FMR1<\/i> CGG repeats and blastocyst development.<\/jats:p>","DOI":"10.1159\/000455849","type":"journal-article","created":{"date-parts":[[2017,2,21]],"date-time":"2017-02-21T22:01:25Z","timestamp":1487714485000},"page":"23-28","source":"Crossref","is-referenced-by-count":5,"title":["Impact of <b><i>FMR1<\/i><\/b> Pre-Mutation Status on Blastocyst Development in Patients Undergoing Pre-Implantation Genetic Diagnosis"],"prefix":"10.1159","volume":"83","author":[{"given":"Anne P.","family":"Hutchinson","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nigel","family":"Pereira","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Debra P.","family":"Lilienthal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Siobh\u00e1n","family":"Coveney","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jovana P.","family":"Lekovich","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rony T.","family":"Elias","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zev","family":"Rosenwaks","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2017,2,22]]},"container-title":["Gynecologic and Obstetric Investigation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/455849","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/455849","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/455849","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T17:10:54Z","timestamp":1745428254000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000455849"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,2,22]]},"references-count":0,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2018,1,9]]},"published-print":{"date-parts":[[2018,1,11]]}},"URL":"https:\/\/doi.org\/10.1159\/000455849","archive":["Portico"],"relation":{},"ISSN":["0378-7346","1423-002X"],"issn-type":[{"value":"0378-7346","type":"print"},{"value":"1423-002X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,2,22]]}}}