Genetic and epigenetic variations associated with idiopathic recurrent pregnancy loss

J Assist Reprod Genet. 2018 Mar;35(3):355-366. doi: 10.1007/s10815-017-1108-y. Epub 2018 Jan 9.

Abstract

Recurrent pregnancy loss (RPL) is a reproductive disorder defined as two or more successive and spontaneous pregnancy losses (before 20 weeks of gestation), which affects approximately 1-2% of couples. At present, the causes of RPL remain unknown in a considerable number of cases, leading to complications in treatment and high levels of stress in couples. Idiopathic recurrent pregnancy loss (iRPL) has become one of the more complicated reproductive problems worldwide due to the lack of information about its etiology, which limits the counseling and treatment of patients. For that reason, iRPL requires further study of novel factors to provide scientific information for determining clinical prevention and targeted strategies. The aim of this study is to describe the most recent and promising progress in the identification of potential genetic and epigenetic risk factors for iRPL, expanding the genetic etiology of the disease.

Keywords: Epigenetic; Genetic; Idiopathic recurrent pregnancy loss; Immune tolerance; Thrombophilia; Tissue remodeling.

Publication types

  • Review

MeSH terms

  • Abortion, Habitual / genetics*
  • Chromosome Aberrations
  • Epigenesis, Genetic*
  • Female
  • Genetic Predisposition to Disease
  • Genetic Variation
  • Humans
  • Immune Tolerance / genetics*
  • Male
  • Pregnancy
  • Telomere
  • Thrombophilia / genetics