Experience of newborn screening for 37 hereditary metabolic diseases by tandem mass spectrometry in Primorsky Region, Russia

Background. The birth incidence of inherited metabolic disorders (IMDs) according to foreign literature data is about 1:5000. In some countries of the world and in most regions of the Russian Federation, newborns are screened for only 5 diseases, although the spectrum of hereditary diseases for which treatments have been developed is much wider. A new stage in neonatal screening was initiated with the advent of tandem mass spectrometry (TMS), a technology that significantly improves screening and expands the list of detectable disorders that are treatable and previously undiagnosable by screening programs. Aim: to evaluate the results of newborn screening by TMS for 37 IMD and to estimate the incidence of IMDs in Primorsky Krai. Methods. Extended neonatal screening in Primorsky Krai for 37 IMDs was performed using TMS in the period 2017-2021. 68481 newborns were examined. All detected cases were confirmed by molecular genetic methods in Research Centre for Medical Genetics (RCMG). Results. As a result of the examination of more than 68,000 newborns, various IMDs were identified in 8 children with phenylketonuria, 4 patients with very long-chain acyl-CoA fatty acid dehydrogenase deficiency, 2 patients with homocystinuria, 2 patients with glutaric aciduria, 1 patient with leucinosis, 1 patient with deficiency of trifunctional mitochondrial protein. Additionally, 12 children are currently under dynamic observation, and among them, there is a high probability of detecting IMD. All disorders from the group of other diseases were confirmed by specialists of RCMG. The incidence of confirmed IMD was 1:3805 newborns. The actual incidence was assumed to be higher for a variety of technical, organizational, and social reasons. Conclusions. The results convincingly demonstrate that newborn screening by the TMS method is an effective and extremely necessary element of clinical practice to reduce morbidity, disability and mortality from IMDs.

newborn screening, hereditary metabolic diseases, tandem mass spectrometry, Primorsky Krai

1. Guthrie R. Clinical Chemistry/Microbiology. LABMEDICINE 2009; 40(12): 748-749.

2. Wilson J.M.G., Jungner G. Principles and Practice of Screening for Disease. Geneva: WHO, 1968. 200 р.

3. The portal for rare diseases and orphan drugs. Available at: https://www.orpha.net

4. Печатникова Н.Л., Захарова Е.Ю., Ижевская В.Л. Оценка клинико-экономической эффективности программ неонатального скрининга на наследственные болезни обмена веществ. Медицинская генетика 2020; 19(10): 4-9. https://doi.org/10.25557/2073-7998.2020.10.4-9