Two Years of Expanded Newborn Screening in Russia: High-Throughput Detection of Inherited Metabolic Disorders by Tandem Mass Spectrometry with Next-Generation Sequencing Confirmation

In 2023, the Russian Federation expanded its national newborn screening (NBS) program from 5 to 36 conditions, 29 of which are inherited metabolic diseases (IMDs). This study presents the first nationwide results and outcomes of the expanded NBS program. Between January 2023 and December 2024, dried blood spots from 2,466,615 newborns (98.53% of the birth cohort) were analyzed for IMDs using MS/MS. Screen-positive cases were referred to the national reference center for confirmatory testing, which included biochemical (MS/MS and GC-MS) and genetic analyses (NGS). A total of 41,728 neonates (1.69%) screened positive, of whom 37,733 underwent confirmatory testing. It resulted in 834 confirmed diagnoses of IMDs (1 in 2900 live births). Phenylketonuria was the most prevalent IMD (<i>n</i> = 538; 1 in 4600), followed by MCADD (<i>n</i> = 99; 1 in 25,000). Distinct regional and ethnic variations were observed, including a high prevalence of tyrosinemia type 1 in the Chechen Republic and MCADD in North Ossetia. The integration of NGS was essential for resolving complex cases, such as identifying heterozygous carriers and dual diagnoses. These findings underscore the program's clinical utility, highlight unique epidemiological patterns, and identify challenges such as false positives and diagnostic complexities, which will guide future refinements.

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Publication Details

Journal
International Journal of Neonatal Screening
Published
2026-03-02
DOI
https://doi.org/10.3390/ijns12010013
Primary Topic
Metabolism and Genetic Disorders
Type
article
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article

Two Years of Expanded Newborn Screening in Russia: High-Throughput Detection of Inherited Metabolic Disorders by Tandem Mass Spectrometry with Next-Generation Sequencing Confirmation

S. A. Matulevich, П.В. Баранова, А. Л. Коротеев, Olga Ivanova et al.
International Journal of Neonatal Screening
Metabolism and Genetic Disorders
article

Two Years of Expanded Newborn Screening in Russia: High-Throughput Detection of Inherited Metabolic Disorders by Tandem Mass Spectrometry with Next-Generation Sequencing Confirmation

S. A. Matulevich, П.В. Баранова, А. Л. Коротеев, Olga Ivanova, D. Yu. Trofimov, Kirill V. Savostyanov, Natalya Milovanova, Tatyana Bairova, А. Л. Чухрова, В. А. Кадникова, Tatyana Nagornova, С. В. Морданов, Galina Baydakova, Nina Ryadninskaya, Sergey I. Kutsev, A. Polyakov, Yana D. Nazarenko, Darya Y. Aleksandrova, Fanil Bilalov, Yulia S. Itkis, E. Zakharova, Ekaterina Lotnik, O. A. Shchagina, Sergey V. Voronin, G N Seitova, Elena B. Nikolaeva
article en

Abstract

In 2023, the Russian Federation expanded its national newborn screening (NBS) program from 5 to 36 conditions, 29 of which are inherited metabolic diseases (IMDs). This study presents the first nationwide results and outcomes of the expanded NBS program. Between January 2023 and December 2024, dried blood spots from 2,466,615 newborns (98.53% of the birth cohort) were analyzed for IMDs using MS/MS. Screen-positive cases were referred to the national reference center for confirmatory testing, which included biochemical (MS/MS and GC-MS) and genetic analyses (NGS). A total of 41,728 neonates (1.69%) screened positive, of whom 37,733 underwent confirmatory testing. It resulted in 834 confirmed diagnoses of IMDs (1 in 2900 live births). Phenylketonuria was the most prevalent IMD (<i>n</i> = 538; 1 in 4600), followed by MCADD (<i>n</i> = 99; 1 in 25,000). Distinct regional and ethnic variations were observed, including a high prevalence of tyrosinemia type 1 in the Chechen Republic and MCADD in North Ossetia. The integration of NGS was essential for resolving complex cases, such as identifying heterozygous carriers and dual diagnoses. These findings underscore the program's clinical utility, highlight unique epidemiological patterns, and identify challenges such as false positives and diagnostic complexities, which will guide future refinements.

International Journal of Neonatal ScreeningVol. 12(1)
Rostov State Medical University (RU), Center for Children (US), Tomsk National Research Medical Center (RU), Scientific Center of Family Health Problems and Human Reproduction (RU), Krasnoyarsk Regional Clinical Hospital (RU), Research Centre for Medical Genetics (RU), National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I.Kulakov of the Ministry of Healthcare of the Russian Federation (RU), Institute of Child and Mother Health (BD)
Good health and well-being
Openalex Percentile: Top 36%
Metabolism and Genetic Disorders
DOIOpen Access PDFOpenAlex
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