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Uvod. Presejanje novorojencev v Sloveniji se je začelo leta 1979 s presejanjem za fenilketonurijo (PKU). Leta 1981 je bil v program presejanja dodan še kongenitalni hipotireoidizem (CH). Cilj te raziskave je analiza podatkov presejanja novorojencev v Sloveniji v obdobju med letoma 1993 in 2012 za PKU ter med letoma 1991 in 2012 za CH. Metode. Vzorci krvi so bili odvzeti petim novorojencem med tretjim in petim dnem življenja. Pri presejanju za PKU se uporablja fluorometrična metoda, presejanje za CH pa poteka z metodo DELFIA. Rezultati. Od leta 1993 do leta 2012 je bil presejalni test za PKU izveden pri 358.831 novorojencih. Pri 57 otrocih je bil PKU potrjen. Pri 427.396 novorojencih med letoma 1991 in 2012 je bil izveden presejalni test za CH. Pri 184 otrocih je bil CH potrjen. V navedenih obdobjih je bila incidenca PKU 1:6769 in incidenca CH 1:2323. Zaključki. Uspešna implementacija presejanja novorojencev za PKU in CH je imela pomembno vlogo pri preprečevanju resnih zapletov pri obolelih otrocih. Smiselno bi bilo v program presejanja vključiti nove metabolne bolezni.

Background: Significant improvement in neonatal care has enabled increasing survival of preterm infants. Metabolic bone disease of prematurity is often overlooked due to other comorbidities of preterm birth. The best approach is screening and prevention of the disease in high-risk infants such as preterm infants. Aim: We followed up the clinical, radiological, and serum biochemical markers of metabolic bone disease in extremely preterm infants (<28 weeks of gestation). The clinical applicability and validation of C-terminal telopeptide of type I collagen (CTX-I) as a novel bone turnover marker were assessed. Standard and novel biochemical bone turnover markers and quantitative ultrasound were compared. Method: Patients' data were collected from medical records. Assessments of calcium, phosphate, alkaline phosphatase, bone-alkaline phosphatase, CTX-I, and quantitative ultrasound were prospectively performed twice in 42 extremely preterm infants at postmenstrual ages of 30–32 weeks and 36–40 weeks. Bone mineral density was measured by quantitative ultrasound. Conclusion: Phosphate, alkaline phosphatase, bone alkaline phosphatase, calcium, or ionized calcium are not related to gestational age, but bone mineral density, measured by quantitative ultrasound, is related. There is no correlation between standard and novel biochemical markers and quantitative ultrasound for the identification of metabolic bone disease. [ABSTRACT FROM AUTHOR]