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Prevalence of pathogenic copy number variants among children conceived by donor oocyte

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Prevalence of pathogenic copy number variants among children conceived by donor oocyte

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dc.contributor.author Monfort Membrado, Sandra
dc.contributor.author Orellana Alonso, Carmen
dc.contributor.author Oltra Soler, Juan Silvestre
dc.contributor.author Roselló Piera, Mónica Pilar
dc.contributor.author Caro-Llopis, Alfonso
dc.contributor.author Martínez Castellano, Francisco
dc.date.accessioned 2022-04-13T13:48:45Z
dc.date.available 2022-04-13T13:48:45Z
dc.date.issued 2021
dc.identifier.citation Monfort Membrado, Sandra Orellana Alonso, Carmen Oltra Soler, Juan Silvestre Roselló Piera, Mónica Pilar Caro-Llopis, Alfonso Martínez Castellano, Francisco 2021 Prevalence of pathogenic copy number variants among children conceived by donor oocyte Scientific Reports 11 6752
dc.identifier.uri https://hdl.handle.net/10550/82346
dc.description.abstract Development of assisted reproductive technologies to address infertility has favored the birth of many children in the last years. The majority of children born with these treatments are healthy, but some concerns remain on the safety of these medical procedures. We have retrospectively analyzed both the fertilization method and the microarray results in all those children born between 2010 and 2019 with multiple congenital anomalies, developmental delay and/or autistic spectrum disorder (n = 486) referred for array study in our center. This analysis showed a significant excess of pathogenic copy number variants among those patients conceived after in vitro fertilization with donor oocyte with respect to those patients conceived by natural fertilization (p = 0.0001). On the other hand, no significant excess of pathogenic copy number variants was observed among patients born by autologous oocyte in vitro fertilization. Further studies are necessary to confirm these results and in order to identify the factors that may contribute to an increased risk of genomic rearrangements, as well as consider the screening for genomic alterations after oocyte donation in prenatal diagnosis.
dc.language.iso eng
dc.relation.ispartof Scientific Reports, 2021, vol. 11, num. 6752
dc.subject Genètica
dc.subject Patologia
dc.title Prevalence of pathogenic copy number variants among children conceived by donor oocyte
dc.type journal article es_ES
dc.date.updated 2022-04-13T13:48:45Z
dc.identifier.doi 10.1038/s41598-021-86242-x
dc.identifier.idgrec 151534
dc.rights.accessRights open access es_ES

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