Prenatal diagnosis of metabolic disease

Early detection of metabolic disease affords the possibility of the best possible outcome for affected infants. Prenatal diagnostic capabilities allow for the institution of prenatal therapy, when indicated, and postnatal optimal management. Special formulas, supplemental nutritional therapies, and avoidance of dangerous substrates can be begun in the delivery room, if the affected status of the patient is known. Such therapies are the current mainstay of treatment of inborn errors of metabolism. Earliest possible institution of these therapies allows hope for the best possible outcome for affected infants.