alexa Hereditary Thrombophilic Risk Factors for Recurrent Pregnancy Loss
ISSN: 2161-1041

Hereditary Genetics: Current Research
Open Access

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Review Article

Hereditary Thrombophilic Risk Factors for Recurrent Pregnancy Loss

Arseni Markoff1*, Nadja Bogdanova2 and Meyer Michel Samama3

1 Institute of Medical Biochemistry, ZMBE and IZKF, Münster

2Institute of Human Genetics, UKM, Westfalian-Wilhelms University of Munster, Munster, Germany

3Hotel-Dieu University Hospital, Paris, France

*Corresponding Author:
Arseni Markoff
Institute of Medical Biochemistry
ZMBE, Von Esmarch str. 56, 48149 Münster
E-mail: [email protected]

Received Date: October 29, 2011; Accepted Date: December 14, 2011; Published Date: December 19, 2011

Citation: Markoff A, Bogdanova N, Samama MM (2012) Hereditary Thrombophilic Risk Factors for Recurrent Pregnancy Loss. Hereditary Genetics S1:001. doi: 10.4172/2161-1041.S1-001

Copyright: © 2012 Markoff A, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Abstract

This review summarizes current knowledge about the role of hereditary hypercoagulation factors predisposing to thrombophilia-associated recurrent fetal loss. Thrombophilias are a major cause of adverse pregnancy outcome, playing a role in the etiology of up to 40% of cases worldwide. Hereditary thrombophilic predispositions to recurrent pregnancy wastage include genetic lesions in blood coagulation factors II and V as well as natural anticoagulants antithrombin, protein C and protein S. Furthermore, these gene defects confer higher thrombophilia risk in combination. They, as well as the newly described annexin A5 gene M2 promoter allele are associated with repeated fetal loss. The review gives a concise description of the molecular defects arising from the genetic changes, of the role these factors play in the timing and definition of fetal loss, and risk estimates from available studies and meta-analyses. This knowledge is instrumental for a more precise assessment of individual risks for repeated fetal loss and should guide therapeutic strategies, where relevant. Since the average childbearing age increases in western societies, the importance of a timely diagnosis of fetal loss predisposition is increasing.

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