Every year, an estimated 7.9 million children worldwide are born with severe birth defects that are totally or partially genetically determined. More than 90% of them are born in low- and middle-income countries lacking the infrastructure to provide the health care these infants need. In the most developed countries, about 30% of these children die in early childhood, 30% receive palliative treatment and live with chronic disability, and the remaining 40% receive curative treatment or have the condition’s health impact significantly reduced, mainly through surgery.[1]

In Cuba, birth defects are the second leading cause of death in children aged <1 year, preceded by certain conditions originating in the perinatal period and followed by influenza and pneumonia, septicemia (except of the newborn) and unintentional injuries (Table 1).[2]