Rare diseases


Rare diseases

Congenital malformations

Congenital malformations are structural defects present at the time of birth.

They involve about 3% of newborns and can be severe, with chronic and disabling outcomes. For a group of these pathologies it is possible to carry out primary prevention strategies by reducing risk factors (minimizing exposure to biological agents, chemicals and endocrine disruptors) and increasing protective factors: healthy lifestyles, healthy and balanced diet (rich in fruits and vegetables), daily intake of vitamin B9 (or folic acid) orally from the periconceptional period (at least one month before conception and  throughout the first trimester of pregnancy).

The surveillance activity, in particular carried out through the Registers, represents an important tool for monitoring the frequency of events, also in order to evaluate etiology, support research and public health actions.