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| Authors | H Gauci Grech M Formosa C Sant M P Brincat |
| Abstract | Aim: The aim was to investigate the prevalence of MTHFR mutations in a cohort of 56 patients. Method: This retrospective observation study includes couples with 2 66 Malta Medical Journal Volume 18 Supplement December 2006 or more recurrent miscarriages who attended the recurrent miscarriage clinic over the past 2 years. A standard investigation protocol was applied to all patients. The protocol included blood tests for serum folate, fasting homocysteine levels and MTHFR mutations. Both the patients and their partners were investigated. Every patient with MTHFR homozygote mutation was advised to take double dose folic acid daily, stop smoking and avoid other contributing factors to thrombosis. Results: The results concerning MTHFR mutations were as follows: Patients with homozygous MTHFR mutation - 5 (9%) Patients with heterozygous MTHFR mutation - 23 (41%) Patients partners with homozygous MTHFR mutation - 3 (5.3 %) Patients partners with heterozygous MTHFR mutation - 11 (20.7%) 3 patients (5.3%) were found to have high homocysteine levels. 1 patients partner was found to have high homocysteine levels. Serum folate levels were found to be normal in every case. Conclusion: From these results it can be seen that MTHFR mutations have a high prevalence in our population of patients with a history of recurrent miscarriages and that therefore its inclusion in the investigation protocol of recurrent miscarriage is both justified and indicated. The role of heterozygote states of the MTHFR mutation (41% of female partners) in the aetiology of recurrent miscarriage is yet to be defined. |
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| Journal | Malta Medical Journal |
| Volume | 15 Issue 1-2/suppl. 2003 |
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| Key words | recurrent miscarriage, MTHFR mutations |