State of diagnostic markers of inherited metabolic diseases in newborn: analysis of previous results of neonatal screening in Ukraine




extended neonatal screening, inherited metabolic diseases, premature babies


Despite the different number of inherited metabolic diseases (HMDs) in the panel of expanded neonatal screening (ENS), each country has its own reference values of diagnostic analytes for HMDs specific to its population. In Ukraine, unfortunately, there are no such reference intervals of marker indicators that are responsible for the realization of certain metabolic disorders.

Purpose - to analyse the diagnostic markers of SCD and determine the trend of these indicators for the Ukrainian pediatric population.

Materials and methods. Therefore, the article presents the previous results of the ENS with the determination of the trend of laboratory indicators of HMDs specifically for the Ukrainian population of newborn children. During the period of the study, ENS by tandem mass spectrometry was performed for 165 newborns born at the SI «Institute of Pediatrics, Obstetrics and Gynecology named after academician O.M. Lukyanova of the NAMS of Ukraine» during 2020-2022.

Results. When analyzing the obtained data, a non-linear correlation dependence of the level of diagnostic analytes, namely long-chain fatty acids, depending on the body weight at birth was noted: in groups of children with low and very low body weight at birth, the average values of indicators C0/(C16+C18); (C14:1/C16); (C18:1/C16); (C18:2/C16) are significantly higher compared to children with satisfactory birth weight.

Conclusions. Analytical considerations for the interpretation of ENS results include both the influence of maternal conditions during pregnancy and the influence of factors from the side of the newborn. Positive results of ENS require differential diagnosis between perinatal and hereditary diseases, a number of clarifying studies, and further follow-up.

The research was carried out in accordance with the principles of the Helsinki Declaration. The study protocol was approved by the Local Ethics Committee of the participating institution. The informed consent of the patient was obtained for conducting the studies.

No conflict of interests was declared by the authors.


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