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Κυριακή 9 Ιουνίου 2019

Genetics and Epigenetics of Infertility and Treatments on Outcomes
Margareta D Pisarska  Jessica L Chan  Kate Lawrenson Tania L Gonzalez  Erica T Wang
The Journal of Clinical Endocrinology & Metabolism, Volume 104, Issue 6, June 2019, Pages 1871–1886, https://doi.org/10.1210/jc.2018-01869
Published: 17 December 2018  Article history
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Abstract
Context
Infertility affects 10% of the reproductive-age population. Even the most successful treatments such as assisted reproductive technologies still result in failed implantation. In addition, adverse pregnancy outcomes associated with infertility have been attributed to these fertility treatments owing to the presumed epigenetic modifications of in vitro fertilization and in vitro embryo development. However, the diagnosis of infertility has been associated with adverse outcomes, and the etiologies leading to infertility have been associated with adverse pregnancy and long-term outcomes.

Evidence Acquisition
We have comprehensively summarized the data available through observational, experimental, cohort, and randomized studies to better define the effect of the underlying infertility diagnosis vs the epigenetics of infertility treatments on treatment success and overall outcomes.

Evidence Synthesis
Most female infertility results from polycystic ovary syndrome, endometriosis, and unexplained infertility, with some cases resulting from a polycystic ovary syndrome phenotype or underlying endometriosis. In addition to failed implantation, defective implantation can lead to problems with placentation that leads to adverse pregnancy outcomes, affecting both mother and fetus.

Conclusion
Current research, although limited, has suggested that genetics and epigenetics of infertility diagnosis affects disease and overall outcomes. In addition, other fertility treatments, which also lead to adverse outcomes, are aiding in the identification of factors, including the supraphysiologic hormonal environment, that might affect the overall success and healthy outcomes for mother and child. Further studies, including genome-wide association studies, epigenomics studies, and experimental studies, are needed to better identify the factors leading to these outcomes.

Issue Section: Reproductive Biology and Sex-Based Medicine
Copyright © 2019 Endocrine Society

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