Procreation in families with inborn error of metabolism--new challenges for medical care

Abstract

Several years ago genetic counseling with the estimation of the risk of the disease in the next pregnancies of the same parents was the only offer for the family with a child with an inborn error of metabolism (IEM). Nowadays diagnostics and treatment of IEM improve. So there are more and more adult patients thinking about having their own offspring. Each woman with IEM who wants to have own child needs special medical care from preconception time up to postpartum period. Depending on the type of disease, such elements as the mother's diet and medicines used for her treatment may influence the foetus and child health and development. In the opposite the growing foetus may have an influence on mother's metabolic status and on her health complications. Therefore interdisciplinary team of specialists should be involved in the health care of women with inborn errors of metabolism.