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RESEARCH ALERT: Examination of Fertility Treatments and Genetic Changes in Embryos


Cedars-Sinai investigators found no established link between the use of assisted reproductive technologies and potential problems in DNA methylation that might impact genetic expression or embryonic development.


Infertility treatments with assisted reproductive technology (ART) are on the rise and account for over 8 million births worldwide. ART, such as in vitro fertilization, is associated with several adverse maternal and neonatal outcomes, including low birth weight, preterm delivery, preeclampsia, gestational diabetes and increased maternal morbidity. The precise cause of these elevated risks is unknown.

Cedars-Sinai investigators analyzed previous ART research for any genomic data suggesting DNA methylation—a biochemical process that can impact gene expression—could be linked to changes in embryonic cell development and growth.


Investigators performed a systematic review of research that undertook a genomewide analysis of human methylation differences attributed to ART or infertility. Any tissue types across the lifespan were assessed for inclusion. Seventeen studies met the inclusion criteria and included examinations of samples from a wide variety of sources, including placental and fetal tissue and cord blood and adult peripheral blood. Tissues from various infertility treatments, including in vitro fertilization (IVF) and intracytoplasmic sperm injection, were used in some of the studies reviewed. Specimens from unassisted conceptions were part of some of the research analyzed.


Information from this systematic review of existing data can assist patients and their healthcare providers to better understand DNA methylation and genetic development risks relating to the use of assisted reproductive technology to treat infertility.


The study is published in the journal Fertility and Sterility.


“As we develop a better understanding of the genetics and epigenetics of the infertility etiology and the effect of fertility treatment on epigenetics, we are in the best position to develop modifications and new approaches to treatment that may lead to improvements in pregnancy outcomes and maternal health,” said Margareta Pisarska, MD, director of the Fertility and Reproductive Medicine Center at Cedars-Sinai and corresponding author of the study.

“The goal of fertility treatment is to achieve a successful pregnancy and a healthy mother and child. Despite the risk of some adverse outcomes associated with infertility and fertility treatments, these risks are small,” Pisarska emphasized.


Other Cedars-Sinai authors include Amelia M. Schaub, MD; Tania L. Gonzalez, PhD; Anna E. Dorfman, BA; Allynson G. Novoa, BS; Rimsha A. Hussaini, BS; Paige M. Harakuni, BS; Mayaal H. Khan, BS; Brandon J. Shabani; Akhila Swarna, BS; Erica T. Wang, MD; Jessica L. Chan, MD; and John Williams III, MD.


The research was supported by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD074368), the National Institute of Allergy and Infectious Diseases (R01AI154535) and the genomic analysis company Sequenom.

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