Newborn Screening

Abstract The aim of the National Neonatal Screening Program is to detect diseases that do not have symptoms in the early neonatal program but may lead to severe disabilities if not diagnosed and treated early. If at least 95% of the population is screened, complications due to these diseases may be prevented. Screening for metabolic, endocrinologic and genetic diseases is performed by obtaining capillary blood samples 36-72 hours after birth in every infant. In this way, phenylketonuria, hypothyroidism, biotinidase deficiency and cystic fibrosis may be diagnosed early. On the other hand, every infant undergoes hearing screening by automated brainstem reflexes and referred to an appropriate center if needed. Although it is not compulsory, screening for congenital heart disease may be performed by an non-invazive, cheap and effective method. Infants are evaluated for developmental hip dysplasia before discharge and screening is performed by hip ultrasonography at 3-6 weeks. Red reflex test is a part of physical examination of the newborn and may give clues for cataracts, corneal opacities, retinablostoma and retinal detachment