Infertility in folic acid metabolism disorders: genetics (MTHFR)

A healthy life already begins with development in the womb. In Switzerland, about 50 to 60 children or embryos suffer from a severe spinal cord malformation, known as "open back" or "spina bifida", in the first weeks of pregnancy every year.

Folic acid, a B vitamin, can significantly reduce the risk of such serious malformations if it is taken before the egg is fertilized. Folic acid is essential for cell division and function, which is why the need is increased during periods of rapid growth, especially during early pregnancy.

The exact mechanism by which folic acid reduces the risk of neural tube defects is not yet fully understood. The risk of neural tube defects depends on environmental factors, such as the mother's folic acid supply, the use of certain medications, the mother's diet and health (risk factors include diabetes, epileptic seizures or severe obesity), and genetic factors.

Among other things, the MTHFR gene is responsible for folic acid metabolism. Variations of this gene can cause impaired folic acid metabolism and thus increase the risk of various folic acid deficiency-associated diseases such as spina bifida.

Genetic testing can help determine whether folic acid can be properly metabolized by the body. If this is not the case, alternative preparations can be offered.

Gene studied: MTHFR