Abstract
This communication reports the topics and conclusions of the first Italian National Workshop “Gene-Environment Interactions: Folates and Congenital Malformations,” held at the National Health Institute (Istituto Superiore di Sanita, Rome) on December 7, 2001. The prevention and monitoring of birth defects and rare congenital diseases are current priorities for the Italian National Health System. Due to its biologic roles (metabolism of nucleic acids and amino acids such as methionine and cysteine), folic acid (FA, pteroyl-glutamic acid) is an important factor in developmental pathways. Accordingly, an adequate intake of FA during the periconceptional and early organogenetic phases is widely recognized as a preventive factor of neural tube defects (NTDs). Growing evidence exists regarding its effect on other malformations, such as orofacial clefts (OFCs) and cardiovascular defects. However, Italy has no policies or official recommendations regarding either periconceptional supplementation or food fortification. Thus, this workshop was organized to promote an interdisciplinary discussion about the various aspects relevant to folates and birth defects and to increase and disseminate knowledge of the topic among health services.
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