ISSN Print 2500–1094
ISSN Online 2542–1204
BIOMEDICAL JOURNAL OF PIROGOV UNIVERSITY (MOSCOW, RUSSIA)
Copyright: © 2025 by the authors. Licensee: Pirogov University.
This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution license (CC BY).
This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution license (CC BY).
ORIGINAL RESEARCH
Newborn screening in North Ossetia in 2023–2024
About authors
1 Research Centre for Medical Genetics, Moscow, Russia
2 North-Ossetian State Medical Academy, Vladikavkaz, Russia
3 Republican Children’s Clinical Hospital, Vladikavkaz, Russia
Correspondence should be addressed: Rena A. Zinchenko
Moskvorechie, 1, 115522, Moscow, Russia; ur.liam@oknehcnizaner
About paper
Funding: the study was funded by the federal and regional budgets in terms of implementing expanded newborn screening and supported as part of the State Assignment of the Research Centre for Medical Genetics and the Ministry of Health of the Republic of North Ossetia–Alania.
Author contribution: Tebieva IS, Gabisova YuV, Khokhova AV — data acquisition, establishing the diagnosis; Zinchenko RA, Tebieva IS — study planning, manuscript writing; Zakharova EYu, Shchagina OA, Lotnik EE, Bakin NV, Marakhonov AV — molecular genetic testing; Zinchenko RA, Tebieva IS, Zakharova EYu — manuscript editing.
Compliance with ethical standards: the study was approved by the Ethics Committee of the Research Centre for Medical Genetics (protocol No. 7 dated 20 December 2017), it was compliant with the standards of Good Clinical Practice and evidence-based medicine. All patients submitted informed consent to participate in the study.
Received: 2025-04-22
Accepted: 2025-05-19
Published online: 2025-05-30
|
Table 1. Biochemical and molecular genetic characteristics of patients with PKU
Note: * — PA reference range — 0–2 mg% for NBS, 0–120 µМ/L for ENBS; * * — Phe/Tyr ratio reference range 0.25–6.5; * * * — not tested for PKU in the MDC of the Republican Children’s Clinical Hospital of RNO-Alania due to the lack of reagents.
Table 2. MS/MS data and molecular genetic characteristics of patients with МСАDD
Note: * — reference values for the studied indicators (µМ/L): С8 — 0–0.26; С10 — 0–0.32; С6DC — 0–0.45; С10:1 — 0–0.14; * * — case of detecting МСАDD and PKU; * * * — mutation not found when performing the АСADM whole gene sequencing, the whole genome sequencing is recommended.
Table 3. SMA patient assessment results, timing of the beginning therapy and drugs used for treatment
Note: neg* — negative.
Table 4. NBS results, 2023–2024
Note: n — number of patients, F — frequency, 95% CI — 95% confidence interval; * — CACD caused by 3β hydroxysteroid dehydrogenase deficiency that is rare in other world’s populations and the RF, but typical for Ossetians, has been detected.
