Genetics Unit, Hospital Universitario Y Politecnico La Fe, 46026, Valencia, Spain.
Department of Genetics, University of Valencia, Valencia, Spain.
Sci Rep. 2021 Mar 24;11(1):6752. doi: 10.1038/s41598-021-86242-x.
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.
辅助生殖技术的发展解决了不孕问题，在过去几年中促成了许多孩子的出生。大多数通过这些治疗出生的孩子是健康的，但人们仍然对这些医疗程序的安全性存在一些担忧。我们回顾性地分析了在我们中心进行的所有患有多种先天异常、发育迟缓和/或自闭症谱系障碍的儿童（n=486）的受精方法和微阵列结果，这些儿童均在 2010 年至 2019 年间出生。分析显示，与自然受精受孕的患者相比，通过供体卵体外受精受孕的患者中存在显著过多的致病性拷贝数变异（p=0.0001）。另一方面，在通过自体卵体外受精出生的患者中未观察到致病性拷贝数变异的显著增加。需要进一步的研究来证实这些结果，并确定可能导致基因组重排风险增加的因素，以及在卵母细胞捐赠后的产前诊断中考虑基因组改变的筛查。
