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

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Sandra Monfort ◽  
Carmen Orellana ◽  
Silvestre Oltra ◽  
Mónica Rosello ◽  
Alfonso Caro-Llopis ◽  
...  

AbstractDevelopment 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.

Author(s):  
Amber Mathiesen ◽  
Kali Roy

For those with an increased risk of having a child with a genetic condition, reproductive options include avoiding pregnancy altogether, undertaking prenatal diagnosis in a current pregnancy, and preventing the transmission of the genetic changes responsible for the condition to a child. This chapter on assisted reproductive technology and reproductive options for the at-risk couple describes the basic techniques of assisted reproductive technologies as well as reproductive testing options prior to in vitro fertilization, including preimplantation genetic screening (PGS) and preimplantation genetic diagnosis (PGD). It includes a brief overview of ovarian stimulation, intrauterine insemination (IUI), and in vitro fertilization. This chapter discusses the details of PGS including the process and its limitations. It also includes a discussion of PGD, including the process, such as linkage analysis, and limitations, such as allele dropout.


Author(s):  
N.A. Altinnik , S.S. Zenin , V.V. Komarova et all

The article discusses the factors that determine the content of the legal limitations of pre-implantation genetic diagnosis in the framework of the in vitro fertilization procedure, taking into account international experience and modern domestic regulatory legal regulation of the field of assisted reproductive technologies. The authors substantiates the conclusion that it is necessary to legislate a list of medical indications for preimplantation genetic diagnosis, as well as the categories of hereditary or other genetic diseases diagnosed in the framework of this procedure.


2020 ◽  
pp. 13-19
Author(s):  
L. Chalova ◽  
V. Lokshin ◽  
A. Guseva ◽  
A. Kinzhibayev

This world literature review tries to determine the significance of the gamete donation in the field of assisted reproductive technologies as well as the availability of treatment methods using donation in in vitro fertilization programs. Gamete donation is regulated by every country's national legislation system, and quite often the laws vary between the states. There are practically no universal standards and/or rules in this area, which, in turn, leads to an ambivalent reaction towards reproductive practices.


Author(s):  
Marcia C. Inhorn

Assisted reproductive technologies, such as in vitro fertilization, have made their way to the Middle Eastern nation states. However, in the Sunni-dominant countries, third-party donation of sperm, eggs, embryos, and uteruses (as in surrogacy) is banned, leading some Sunni Muslim couples to travel to Iran and Lebanon, where Shia Muslim clergy have allowed donor technologies.


2020 ◽  
Vol 12 (1) ◽  
Author(s):  
Patricia Fauque ◽  
Jacques De Mouzon ◽  
Aviva Devaux ◽  
Sylvie Epelboin ◽  
Marie-José Gervoise-Boyer ◽  
...  

Abstract Background Epidemiological studies suggest that singletons born from assisted reproductive technologies (ART) have a high risk of adverse perinatal outcomes, specifically for imprinting disorders. Because ART processes take place at times when epigenetic reprogramming/imprinting are occurring, there is concern that ART can affect genomic imprints. However, little is currently known about the risk of imprinting defects according to the type of ART or the type of underlying female infertility. From the French national health database, a cohort of 3,501,495 singletons born over a 5-year period (2013–2017) following fresh embryo or frozen embryo transfers (fresh-ET or FET from in vitro fertilization), intrauterine insemination, or natural conception was followed up to early childhood. Based on clinical features, several syndromes/diseases involving imprinted genes were monitored. The effects of ART conception and the underlying cause of female infertility were assessed. Results Compared with infants conceived naturally, children born after fresh-ET had a higher prevalence of imprinting-related diseases, with an aOR of 1.43 [95% CI 1.13–1.81, p = 0.003]. Namely, we observed an increased risk of neonatal diabetes mellitus (1.96 aOR [95% CI 1.43–2.70], p < 0.001). There was an overall independent increase in risk of imprinting diseases for children with mothers diagnosed with endometriosis (1.38 aOR [95% CI 1.06–1.80], p = 0.02). Young and advanced maternal age, primiparity, obesity, smoking, and history of high blood pressure or diabetes were also associated with high global risk. Conclusions This prospective epidemiological study showed that the risk of clinically diagnosed imprinting-related diseases is increased in children conceived after fresh embryo transfers or from mothers with endometriosis. The increased perturbations in genomic imprinting could be caused by controlled ovarian hyperstimulation and potentially endometriosis through the impairment of endometrial receptivity and placentation, leading to epigenetic feto-placental changes. Further studies are now needed to improve understanding of the underlying molecular mechanisms (i.e. genetic or epigenetic causes).


Author(s):  
A.A. Fil ◽  
◽  
E.L. Sorokin ◽  
O.V. Kolenko ◽  
◽  
...  

A review of the literature data is presented, which indicates the possible influence of assisted reproductive technologies (ART) on the formation of both systemic and retinal vascular pathology. Despite the fact that the overall incidence of thromboembolic complications as a result of the use of ART is low, nevertheless, in women included in the in vitro fertilization program, their risk increases by 10 times. Therefore, due to the adverse effect of these drugs on the hemostatic system of a woman, ophthalmologists should be more wary of them in order to detect vascular retinal pathology in a timely manner. Key words: assisted reproductive technologies, in vitro fertilization, hyperestrogenism, vascular retinal pathology.


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