The different forms and dosages of folate that practitioners specializing in infertility prescribe to patients with the MTHFR genetic polymorphisms

Background and Aims: Infertility is increasing with over 70 million couples reported to being affected worldwide. Health policy recommends folic acid supplements and food-fortification to increase folate levels in women of childbearing age, however emerging studies are investigating whether other forms of supplemental folate are more suitable, particularly for those with MTHFR polymorphisms. This case series aimed to document the forms and dosage of folate Australian practitioners are prescribing for their patients with diagnosed infertility and MTHFR polymorphisms.

Methods: A retrospective case report form was sent to Australian practitioners that self-identified as specializing in infertility support and screening for MTHFR polymorphisms. The case form documented case history details as well as the dose and form of folate the practitioner prescribed to patients with infertility and MTHFR polymorphisms over a maximum treatment period of 12 months.

Results: Six practitioners submitted case information for 12 patients with diagnosed infertility and MTHFR polymorphisms. All patients were advised to remove folic acid in supplemental form and 75% of patients were advised to ‘avoid’ or ‘be mindful of ’ folic acid fortified foods. All patients were prescribed 5-MTHF or a combination of 5-MTHF and folinic acid, at much higher doses than the Australian recommended upper limit (mean daily maximum prescribed dose: 2,325mcg). Eleven patients fell pregnant within the treatment period and ten were reported as having a live birth.

Conclusions: This case series has highlighted clinical practices that vary from the recommendations by Australian policy. Further research is required to ascertain if women with MTHFR polymorphisms may require a variation of folate prescription to achieve pregnancy and a live birth.