PECULIARITIES OF EXPANDED NEWBORN SCREENING FOR THE INHERITED METABOLIC DISORDERS IN PREMATURE NEWBORNS

Occurrence of the premature birth in Ukraine is about 6%. Premature newborns are highest risk group developing chronic pathology nervous system, sensory organs, and respiratory causing neonatal mortality disability; latter 22 times higher than full-term ones. Besides, there a large rare metabolic disorders that significantly disrupt adaptation nursing with signs morpho-functional enzymes immaturity. The efficacy medical care to great extent relates prompt diagnosis as common somatic, disorders.In view absence specific symptoms, it almost impossible establish inherited disordersduring clinical examination neonate.Expanded newborn screening (ENBS) for inborn errors metabolism (IEMs) proved be an effective tool single out genetic deficiency certain enzymes.The practical experience performingENBS indicates problematic issue interpretation results preterm babies.This article discussed key factors affecting predictive value ENBS newborns, like peculiarities blood sampling based on time intervals from delivery nosologies, repeated sample taking lab considering basic principles 2-nd Edition CLSI "Guideline "Newborn Screening Preterm, Low Birth Weight, Sick Newborns, 2019". Guideline presents consensus solutions global team neonatologists, paediatricians geneticists regarding accuracy, reliability timing laboratory determinations IEM markers blood, well set consider interpreting premature, low weight perinatal pathology.The current procedure babies should updated modern requirements relevant recommendations world-recognized institutions, including CLSI. critical improving quality multiple (repeated) determination levels biochemical markers.A properly established well- functioning system expanded highly reducing early infant disability associated diseases.