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

Genetic and epigenetic variations associated with idiopathic recurrent pregnancy loss

Luis Alejandro Arias-Sosa  1 , Iván Darío Acosta  2 , Elkin Lucena-Quevedo  3 , Harold Moreno-Ortiz  3 , Clara Esteban-Pérez  3 , Maribel Forero-Castro  2
Affiliations
Review

Genetic and epigenetic variations associated with idiopathic recurrent pregnancy loss

Luis Alejandro Arias-Sosa et al. J Assist Reprod Genet. 2018 Mar.

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.

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Conflict of interest statement

The authors declare that they have no conflicts of interest.

Figures

Fig. 1
Fig. 1
Chromosomal abnormalities in recurrent pregnancy loss. Chromosomal abnormalities have been found to be associated with recurrent pregnancy loss at the level of the parents, gametes, and fetus. Numerical and structural abnormalities show the strongest evidence of a relationship with the disease
Fig. 2
Fig. 2
Role of hemostasis dysregulation in iRPL. Schematic representation of the coagulation and fibrinolysis processes and the role of key proteins affected in iRPL. Disruption of the hemostasis process in iRPL by increases in procoagulant activity and loss of anticoagulant controllers leads to the formation of thrombus in the mother-fetus vessels
Fig. 3
Fig. 3
Associated factors of RPL. The known etiology includes proven causes of RPL. The idiopathic etiology is limited to cases in which there is no scientific consensus, but recent studies have found associations with the disease
See this image and copyright information in PMC

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