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.
Highlights
Development of assisted reproductive technologies to address infertility has favored the birth of many children in the last years
388 were patients conceived by natural fertilization, 5 children by artificial insemination, 34 by autologous oocyte in vitro fertilization (IVF) and 21 children were conceived by donor oocyte IVF
Thirteen of these pathogenic copy number variants (CNVs) were found in patients conceived by in vitro fertilization, being remarkable that nine of these patients were conceived from donor oocyte
Summary
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). Development in the last years of assisted reproductive technology (ART) has favored that nowadays an increasing proportion of the children are conceived with these procedures. The only similar studies focused on the presence of whole-chromosome aneuploidies in vitrified versus fresh oocytes, where no significant differences were found[12,13]
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