Yenidoğan Tarama Programı
Synopsis
Newborn screening programs are national health practices aimed at preventing potential mental, neurological, and physical developmental delays by diagnosing treatable permanent diseases at an early stage during the first days of life. The national screening program in Turkey, which began with phenylketonuria in 1986, expanded over time to include hearing tests (2004), congenital hypothyroidism (2006), biotinidase deficiency (2008), cystic fibrosis and vision screening (2015), and congenital adrenal hyperplasia (2017 pilot, 2019). Screenings for phenylketonuria, congenital hypothyroidism, biotinidase deficiency, cystic fibrosis, and congenital adrenal hyperplasia are performed using dry blood samples collected on filter paper between the 36th and 72nd hours of life following at least 48 hours of feeding. These samples, analyzed in laboratories in Ankara and Istanbul, are recorded in the Newborn Screening Program Web Application, and infants with suspicious results are promptly referred to relevant pediatric clinics. Beyond dry blood tests, hearing screening (OAE and AABR) within the first month, vision screening via red reflex examination between 0–3 months, developmental dysplasia of the hip screening using ultrasonography within the first 6 weeks, and critical congenital heart disease screening using pulse oximetry between 24–48 hours are conducted. Early diagnosis and timely treatment interventions established before symptoms appear significantly improve infants' survival rates and overall quality of life.
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