Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2019 Jun 1;104(6):1871-1886.
doi: 10.1210/jc.2018-01869.

Genetics and Epigenetics of Infertility and Treatments on Outcomes

Margareta D Pisarska  1   2 , Jessica L Chan  1 , Kate Lawrenson  1 , Tania L Gonzalez  1 , Erica T Wang  1   2
Affiliations
Review

Genetics and Epigenetics of Infertility and Treatments on Outcomes

Margareta D Pisarska et al. J Clin Endocrinol Metab. .

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.

PubMed Disclaimer

Figures

Figure 1.
Figure 1.
The genetic and epigenetic influences of infertility etiologies and the environmental effect of fertility treatments on epigenetics influence implantation and placentation, which leads to short- and long-term adverse maternal and fetal/childhood outcomes.
See this image and copyright information in PMC

References

    1. Faddy MJ, Gosden MD, Gosden RG. A demographic projection of the contribution of assisted reproductive technologies to world population growth. Reprod Biomed Online. 2018;36(4):455–458. - PubMed
    1. Schieve LA, Meikle SF, Ferre C, Peterson HB, Jeng G, Wilcox LS. Low and very low birth weight in infants conceived with use of assisted reproductive technology. N Engl J Med. 2002;346(10):731–737. - PubMed
    1. Sunderam S, Kissin DM, Crawford SB, Folger SG, Boulet SL, Warner L, Barfield WD. Assisted reproductive technology surveillance—United States, 2015. MMWR Surveill Summ. 2018;67(3):1–28. - PMC - PubMed
    1. Jackson RA, Gibson KA, Wu YW, Croughan MS. Perinatal outcomes in singletons following in vitro fertilization: a meta-analysis. Obstet Gynecol. 2004;103(3):551–563. - PubMed
    1. Hansen M, Kurinczuk JJ, Bower C, Webb S. The risk of major birth defects after intracytoplasmic sperm injection and in vitro fertilization. N Engl J Med. 2002;346(10):725–730. - PubMed

Publication types

MeSH terms