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Hum. Reprod. Advance Access published online on January 23, 2006
Human Reproduction, doi:10.1093/humrep/dei466
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© The Author 2006. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org
Received May 20, 2005
Revised October 6, 2005
Accepted November 15, 2005

Article

Genetic thrombophilic mutations among couples with recurrent miscarriage

S. Jivraj 1, R. Rai 1 *, J. Underwood 1, and L. Regan 1

1 Department of Obstetrics & Gynaecology, Division of Surgery, Oncology, Reproductive Biology and Anaesthetics, Imperial College London, Mint Wing, St Mary’s Hospital, London, UK

* To whom correspondence should be addressed.
R. Rai, E-mail: r.rai{at}imperial.ac.uk


  Abstract

BACKGROUND: Some cases of recurrent first trimester miscarriage (RM)--the loss of three or more consecutive pregnancies at <12 weeks’ gestation--have a thrombotic aetiology. METHODS: We determined (i) the prevalence of three thrombophilic mutations [factor V Leiden (FVL), prothrombin G20210A (PTG) and methylenetetrahydro-folate reductase (MTHFR) C677T] amongst 357 Caucasian couples with RM and 68 parous Caucasian couples with no history of miscarriage and (ii) the prospective outcome of untreated pregnancies amongst couples with RM in which either partner carried a thrombophilic mutation. RESULTS: The allele frequencies of FVL (2%), PTG (2%) and MTHFR C677T (31%) were similar between cases and controls. The prevalence of multiple thrombophilic mutations (greater than one mutation) was also similar between cases and controls. Amongst couples in whom either partner carried greater than one thrombophilic allele, the relative risk of miscarriage in a future untreated pregnancy was 1.9 (95% confidence interval, 1.3-2.8) compared with those couples who carried no thrombophilic mutation. CONCLUSION: The prevalence of thrombophilic mutations is similar in couples with RM and parous controls. In couples with RM, multiple genetic thrombophilic mutations in either partner significantly increases the risk of miscarriage in a subsequent pregnancy.

Keywords: factor V Leiden/first trimester miscarriage/methylenetetrahydrofolate reductase C677T/prothrombin G20210A/thrombophilic mutation.
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