Newborn Screening in Romania–Present and Future

Neonatal screening has proven its usefulness over time by discovering conditions that can profoundly affect the quality of life and the incidence of mortality and morbidity in the pediatric age. Current neonatal screening in Romania consists of metabolic screening (congenital hypothyroidism, phenylketonuria, and mucoviscidosis), screening for hearing loss, and screening for congenital hip dislocation. A separate category is represented by premature newborns who were admitted to the neonatal intensive care unit and subjected to retinopathy screening. Neonatal metabolic screening has helped in the early detection of inborn errors of metabolism. Since the middle of the 20th century, even though simple and effective test methods for the detection of metabolic diseases have been identified, currently no worldwide consensus has been found regarding the content of neonatal metabolic screening panels. There are vast differences between countries in terms of the number of metabolic diseases identified through the national metabolic screening programs, the number varying from zero to several dozen, the most frequent testing being done for phenylketonuria and congenital hypothyroidism (including in Romania). Given that rare diseases recently identified can be treated effectively, reducing the financial burden on the health system, we can count on their introduction into the national neonatal metabolic screening program.