Variations in folate prescriptions for patients with the MTHFR genetic polymorphisms: A case series study

Over 48.5 million couples are reported with infertility worldwide. Health policy recommends folic acid in women of childbearing age, particularly in preconception and pregnancy which results in women purchasing over-the-counter prenatal multivitamins containing folic acid through pharmacies and other retail outlets. Emerging studies are investigating whether other forms of supplemental folate are more suitable, particularly for those with methylenetetrahydrofolate reductase (MTHFR) polymorphisms. This case series aimed to document variations in forms and dosage of folate prescribed by Australian practitioners to patients with diagnosed infertility and MTHFR polymorphisms.

Australian practitioners were invited to complete a retrospective case report form for patients that presented with unexplained infertility. This case report form documented the form and dose of folate that practitioners were prescribing to their infertility patient with MTHFR polymorphisms, together with their fertility history.

Six practitioners submitted case information for 12 patients with diagnosed infertility and MTHFR polymorphisms. All patients had been advised by their practitioner to remove folic acid in supplemental form and were prescribed 5-methyltetrahydrofolate (5-MTHF) or a combination of 5-MTHF and folinic acid, at higher doses than the Australian recommended dose (mean daily maximum prescribed dose: 2325μg). Eleven patients conceived within the treatment period (average treatment of one year) and ten were reported as having a live birth.

This case series has highlighted clinical practices that vary from the recommendations by Australian policy. Further research is required to verify the clinical importance of variations in folate prescriptions for women with MTHFR polymorphisms and how folate recommendations may need to change depending on these polymorphisms. This has direct relevance to those prescribing at the pharmacy and retail level, specifically pharmacists and pharmacy assistants.