Uniparental disomy (UPD) exclusion in embryos following Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR).

Autor: Fabiani M; Department of Human Genetic, Altamedica, Rome, Italy. marco.fabiani@artemisia.it., Margiotti K; Department of Human Genetic, Altamedica, Rome, Italy., Libotte F; Department of Human Genetic, Altamedica, Rome, Italy., Alì C; Department of Human Genetic, Altamedica, Rome, Italy., Zangheri C; Department of Human Genetic, Altamedica, Rome, Italy., Barone MA; Department of Human Genetic, Altamedica, Rome, Italy., Viola A; Department of Human Genetic, Altamedica, Rome, Italy., Cima A; Department of Human Genetic, Altamedica, Rome, Italy., Buonomo G; Department of Reproductive Medicine, Altamedica, Fetal-Maternal Medical Centre, Rome, Italy., Cristofano D; Department of Reproductive Medicine, Altamedica, Fetal-Maternal Medical Centre, Rome, Italy., Lippa A; Department of Reproductive Medicine, Altamedica, Fetal-Maternal Medical Centre, Rome, Italy., Pasquale C; Department of Reproductive Medicine, Altamedica, Fetal-Maternal Medical Centre, Rome, Italy., Montanino Oliva M; Department of Reproductive Medicine, Altamedica, Fetal-Maternal Medical Centre, Rome, Italy., Mesoraca A; Department of Human Genetic, Altamedica, Rome, Italy., Giorlandino C; Department of Human Genetic, Altamedica, Rome, Italy.; Department of Reproductive Medicine, Altamedica, Fetal-Maternal Medical Centre, Rome, Italy.

Publikováno v: Journal of assisted reproduction and genetics [J Assist Reprod Genet] 2024 Dec 18. Date of Electronic Publication: 2024 Dec 18.

P680: Segregation outcomes of embryos undergoing preimplantation genetic testing for structural rearrangements (PGT-SR) in the setting of a familial reciprocal translocation

Autor: Klavanian, Jeannie, Hill, Stephanie, Adsit, Jessica, Wemmer, Nina, Meltzer, Jeffrey, Merrion, Katrina

Publikováno v: In Genetics in Medicine Open 2024 2 Supplement 1

Successful pregnancy after preimplantation genetic testing for structural rearrangements in a couple with complex chromosome rearrangement and recurrent in vitro fertilization failures: a case report

Autor: Divyesh Upadhyay, B.S., Rajia Al Halaby, M.D., Sudha Anandt, Ph.D., Firas Albuz, Ph.D., Merlin Mary Varghese, M.S., Braulio Peramo, M.D.

Publikováno v: F&S Reports, Vol 5, Iss 4, Pp 439-452 (2024)

Objective: To present a case of a couple with 20 years of infertility and 10 recurrent in vitro fertilization (IVF) failures, identifying a paternal complex chromosome rearrangement using high-resolution karyotype together with preimplantation geneti

Externí odkaz: https://doaj.org/article/7d702423a17e44e9bcd547a8970bbe8b

The impact of patient, embryo, and translocation characteristics on the ploidy status of young couples undergoing preimplantation genetic testing for structural rearrangements (PGT-SR) by next generation sequencing (NGS)

Autor: Zalihe Yarkiner, Meral Gultomruk, Lorena Rodrigo, Fazilet Kubra Boynukalin, Niyazi Emre Turgut, Carmen Rubio, Guvenc Karlikaya, Necati Findikli, Selen Ecemis, Mustafa Bahceci

Publikováno v: J Assist Reprod Genet

PURPOSE: To evaluate the factors that affect the incidence of euploid balanced embryos and interchromosomal effect (ICE) in carriers of different structural rearrangements. METHODS: This retrospective study includes 95 couples with reciprocal translo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be0fdde4de4aaa55f4abeac1b9411f18
https://doi.org/10.1007/s10815-020-02054-4

Interchromosomal effect in carriers of translocations and inversions assessed by preimplantation genetic testing for structural rearrangements (PGT-SR)

Autor: A. Mercader, S. García-Herrero, Carmen Rubio, E Mateu-Brull, Inmaculada Campos-Galindo, F. Bronet, Peinado, Florensa M, Milán M, Lorena Rodrigo

Publikováno v: J Assist Reprod Genet
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
r-INCLIVA. Repositorio Institucional de Producción Científica de INCLIVA
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PURPOSE: Balanced carriers of structural rearrangements have an increased risk of unbalanced embryos mainly due to the production of unbalanced gametes during meiosis. Aneuploidy for other chromosomes not involved in the rearrangements has also been

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6622f41802eeae9a4fee18494ead8c6
https://pubmed.ncbi.nlm.nih.gov/31696386