Prioritization of putatively detrimental variants in euploid miscarriages

Autor: Silvia Buonaiuto, Immacolata Di Biase, Valentina Aleotti, Amin Ravaei, Adriano De Marino, Gianluca Damaggio, Marco Chierici, Madhuri Pulijala, Palmira D’Ambrosio, Gabriella Esposito, Qasim Ayub, Cesare Furlanello, Pantaleo Greco, Antonio Capalbo, Michele Rubini, Sebastiano Di Biase, Vincenza Colonna

Publikováno v: Scientific Reports, Vol 12, Iss 1, Pp 1-12 (2022)

Abstract Miscarriage is the spontaneous termination of a pregnancy before 24 weeks of gestation. We studied the genome of euploid miscarried embryos from mothers in the range of healthy adult individuals to understand genetic susceptibility to miscar

Externí odkaz: https://doaj.org/article/97530b1c29e640a5ba409b91d6359007

The human periconceptional maternal-embryonic space in health and disease

Autor: Inmaculada Moreno, Antonio Capalbo, Aymara Mas, Tamara Garrido-Gomez, Beatriz Roson, Maurizio Poli, Eva Dimitriadis, Xavier Santamaria, Felipe Vilella, Carlos Simon

Publikováno v: Physiological Reviews. 103:1965-2038

Pregnancy is established during the periconceptional period as a continuum beginning with blastocyst attachment to the endometrial epithelial surface followed by embryo invasion and placenta formation. This period sets the foundation for the child an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5bbfdc21a4790acee365b713f61e642b
https://doi.org/10.1152/physrev.00050.2021

The use of copy number loads to designate mosaicism in blastocyst stage PGT-A cycles: fewer is better

Autor: Laura Girardi, Matteo Figliuzzi, Maurizio Poli, Munevver Serdarogullari, Cristina Patassini, Silvia Caroselli, Ilaria Pergher, Francesco Cogo, Onder Coban, Fazilet Kubra Boynukalin, Mustafa Bahceci, Roser Navarro, Carmen Rubio, Necati Findikli, Carlos Simón, Antonio Capalbo

Publikováno v: Human Reproduction. 38:982-991

STUDY QUESTION How well can whole chromosome copy number analysis from a single trophectoderm (TE) biopsy predict true mosaicism configurations in human blastocysts? SUMMARY ANSWER When a single TE biopsy is tested, wide mosaicism thresholds (i.e. 20

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::68e53ad29542454bc3ba8fad1e30b41e
https://doi.org/10.1093/humrep/dead049

Maternal exome analysis for the diagnosis of oocyte maturation defects and early embryonic developmental arrest

Autor: Antonio Capalbo, Silvia Buonaiuto, Matteo Figliuzzi, Gianluca Damaggio, Laura Girardi, Silvia Caroselli, Maurizio Poli, Cristina Patassini, Murat Cetinkaya, Beril Yuksel, Ajuna Azad, Marie Louise Grøndahl, Eva R. Hoffmann, Carlos Simón, Vincenza Colonna, Semra Kahraman

Publikováno v: Capalbo, A, Buonaiuto, S, Figliuzzi, M, Damaggio, G, Girardi, L, Caroselli, S, Poli, M, Patassini, C, Cetinkaya, M, Yuksel, B, Azad, A, Grøndahl, M L, Hoffmann, E R, Simón, C, Colonna, V & Kahraman, S 2022, ' Maternal exome analysis for the diagnosis of oocyte maturation defects and early embryonic developmental arrest ', Reproductive BioMedicine Online, vol. 45, no. 3, pp. 508-518 . https://doi.org/10.1016/j.rbmo.2022.05.009

Research question: Can a methodology be developed for case selection and whole-exome sequencing (WES) analysis of women who are infertile owing to recurrent oocyte maturation defects (OOMD) and/or preimplantation embryo lethality (PREMBL)? Design: Da

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a4b96cf80e77b432e92b7ebbffadd26
https://doi.org/10.1016/j.rbmo.2022.05.009

Past, Present, and Future Strategies for Enhanced Assessment of Embryo's Genome and Reproductive Competence in Women of Advanced Reproductive Age

Autor: Maurizio Poli, Laura Girardi, Marco Fabiani, Martina Moretto, Valeria Romanelli, Cristina Patassini, Daniela Zuccarello, Antonio Capalbo

Publikováno v: Frontiers in Endocrinology, Vol 10 (2019)

Recent advancements in genomic analysis allow testing of an increasing number of genetic features in human preimplantation embryos. Typical single gene mutation and whole chromosomes testing can now be integrated with assessment of mitochondrial DNA

Externí odkaz: https://doaj.org/article/c14103dc49a24848a0286c48013dbde2