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

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 ana...

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Autores principales:	Sandra Monfort, Carmen Orellana, Silvestre Oltra, Mónica Rosello, Alfonso Caro-Llopis, Francisco Martinez
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/11ef8d5263af4e21bfb9de245e5abaff
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spelling	oai:doaj.org-article:11ef8d5263af4e21bfb9de245e5abaff2021-12-02T13:24:14ZPrevalence of pathogenic copy number variants among children conceived by donor oocyte10.1038/s41598-021-86242-x2045-2322https://doaj.org/article/11ef8d5263af4e21bfb9de245e5abaff2021-03-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-86242-xhttps://doaj.org/toc/2045-2322Abstract 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.Sandra MonfortCarmen OrellanaSilvestre OltraMónica RoselloAlfonso Caro-LlopisFrancisco MartinezNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-6 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Sandra Monfort Carmen Orellana Silvestre Oltra Mónica Rosello Alfonso Caro-Llopis Francisco Martinez Prevalence of pathogenic copy number variants among children conceived by donor oocyte
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.
format	article
author	Sandra Monfort Carmen Orellana Silvestre Oltra Mónica Rosello Alfonso Caro-Llopis Francisco Martinez
author_facet	Sandra Monfort Carmen Orellana Silvestre Oltra Mónica Rosello Alfonso Caro-Llopis Francisco Martinez
author_sort	Sandra Monfort
title	Prevalence of pathogenic copy number variants among children conceived by donor oocyte
title_short	Prevalence of pathogenic copy number variants among children conceived by donor oocyte
title_full	Prevalence of pathogenic copy number variants among children conceived by donor oocyte
title_fullStr	Prevalence of pathogenic copy number variants among children conceived by donor oocyte
title_full_unstemmed	Prevalence of pathogenic copy number variants among children conceived by donor oocyte
title_sort	prevalence of pathogenic copy number variants among children conceived by donor oocyte
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/11ef8d5263af4e21bfb9de245e5abaff
work_keys_str_mv	AT sandramonfort prevalenceofpathogeniccopynumbervariantsamongchildrenconceivedbydonoroocyte AT carmenorellana prevalenceofpathogeniccopynumbervariantsamongchildrenconceivedbydonoroocyte AT silvestreoltra prevalenceofpathogeniccopynumbervariantsamongchildrenconceivedbydonoroocyte AT monicarosello prevalenceofpathogeniccopynumbervariantsamongchildrenconceivedbydonoroocyte AT alfonsocarollopis prevalenceofpathogeniccopynumbervariantsamongchildrenconceivedbydonoroocyte AT franciscomartinez prevalenceofpathogeniccopynumbervariantsamongchildrenconceivedbydonoroocyte
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Prevalence of pathogenic copy number variants among children conceived by donor oocyte

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