Evidence map›Paper›PMID 41892021›Full record

ArticleInternational journal of neonatal screening2026

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

Ekaterina Y Zakharova, Galina V Baydakova, Polina V Baranova, Darya Y Aleksandrova, Olga A Shchagina, Yulia S Itkis, Natalya V Milovanova, Tatyana S Nagornova, Olga N Ivanova, Yana D Nazarenko and 16 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of neonatal screening, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

26 authors.

Ekaterina Y ZakharovaResearch Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.
Galina V BaydakovaResearch Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.
Polina V BaranovaResearch Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.ORCID 0000-0001-6664-7577
Darya Y AleksandrovaResearch Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.
Olga A ShchaginaResearch Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.ORCID 0000-0003-4905-1303
Yulia S ItkisResearch Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.
Natalya V MilovanovaResearch Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.
Tatyana S NagornovaResearch Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.ORCID 0000-0003-4527-4518
Olga N IvanovaResearch Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.
Yana D NazarenkoResearch Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.ORCID 0000-0003-0033-8311
Sergey V VoroninResearch Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.
Alena L ChukhrovaResearch Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.
Varvara A KadnikovaResearch Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.
Ekaterina E LotnikResearch Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.ORCID 0009-0006-0132-106X
Nina V RyadninskayaResearch Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.
Aleksander V PolyakovResearch Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.
Kirill V SavostyanovNational Medical Research Center for Children's Health, 2 b.1 Lomonosovsky Ave., 119991 Moscow, Russia.ORCID 0000-0003-4885-4171
Fanil S BilalovRepublican Medical Genetic Centre, 74 Gafuri St., 450076 Ufa, Russia.
Alexander L KoroteevDiagnostic Centre (Medical Genetic), 5A Tobolskaya St., 194044 Saint-Petersburg, Russia.ORCID 0000-0002-1568-3217
Dmitry Y TrofimovNational Medical Research Center for Obstetrics, Gynecology and Perinatology Named After Academician V.I. Kulakov, 4 Akademik Oparin St., 117997 Moscow, Russia.
Tatyana A BairovaScientific Centre for Family Health and Human Reproduction Problems, 16 Timiryazev St., 664003 Irkutsk, Russia.ORCID 0000-0003-3704-830X
Gulnara N SeitovaTomsk National Research Medical Centre of the Russian Academy of Sciences, 10 Naberezhnaya Reki Ushaiki St., 634050 Tomsk, Russia.
Sergei V MordanovLaboratory Department of the Medical Genetic Center, Rostov State Medical University, 29 Nakhichevanskiy Lane, 344022 Rostov-on-Don, Russia.
Svetlana A MatulevichRegional Clinical Hospital No 1 Named After Professor S.V. Ochapovsky, 167 May 1 St., 350086 Krasnodar, Russia.
Elena B NikolaevaMother and Child Healthcare Clinical Diagnostic Centre, 52 Flotskaya St., 620067 Yekaterinburg, Russia.
Sergey I KutsevResearch Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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 (

Indexed as

expansion of newborn screeninginherited metabolic diseasesRussian Federation

Identifiers

PMID41892021
PMCPMC13027380

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.