Evidence map›Paper›PMID 40700042›Full record

ArticleInternational journal of neonatal screening2025

Qatar's National Expanded Metabolic Newborn Screening Program: Incidence and Outcomes.

Tala Jamaleddin, Karen El-Akouri, Sumaya Abiib, Rola Mitri, Mamatha Ramaswamy, Sara Musa, Rehab Ali, Noora Shahbeck, Hilal Al Rifai, Ghassan Abdoh and 3 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of neonatal screening, 2025. 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

13 authors.

Tala JamaleddinDepartment of Biomedical Sciences, College of Health Sciences, QU Health, Qatar University, Doha P.O. Box 2713, Qatar.ORCID 0000-0002-9272-1168
Karen El-AkouriDivision of Genetic and Genomic Medicine, Sidra Medicine, Doha P.O. Box 26999, Qatar.ORCID 0000-0003-1476-3490
Sumaya AbiibDepartment of Biomedical Sciences, College of Health Sciences, QU Health, Qatar University, Doha P.O. Box 2713, Qatar.
Rola MitriDepartment of Lab Medicine and Pathology, Hamad Medical Corporation, Doha P.O. Box 3050, Qatar.
Mamatha RamaswamyDepartment of Lab Medicine and Pathology, Hamad Medical Corporation, Doha P.O. Box 3050, Qatar.
Sara MusaDivision of Genetic and Genomic Medicine, Sidra Medicine, Doha P.O. Box 26999, Qatar.
Rehab AliDivision of Genetic and Genomic Medicine, Sidra Medicine, Doha P.O. Box 26999, Qatar.
Noora ShahbeckDivision of Genetic and Genomic Medicine, Sidra Medicine, Doha P.O. Box 26999, Qatar.
Hilal Al RifaiDepartment of Pediatrics and Neonatology, Neonatal Intensive Care Unit, Newborn Screening Unit, Women's Wellness and Research Center, Hamad Medical Corporation, Doha P.O. Box 3050, Qatar.
Ghassan AbdohDepartment of Pediatrics and Neonatology, Neonatal Intensive Care Unit, Newborn Screening Unit, Women's Wellness and Research Center, Hamad Medical Corporation, Doha P.O. Box 3050, Qatar.
Tawfeg Ben-OmranDepartment of Biomedical Sciences, College of Health Sciences, QU Health, Qatar University, Doha P.O. Box 2713, Qatar.
Osama Y Al-DirbashiDepartment of Biomedical Sciences, College of Health Sciences, QU Health, Qatar University, Doha P.O. Box 2713, Qatar.
Mashael Al-ShafaiDepartment of Biomedical Sciences, College of Health Sciences, QU Health, Qatar University, Doha P.O. Box 2713, Qatar.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundNewborn screening is an essential public health strategy that aims to detect a range of conditions, including inborn errors of metabolism, in neonates shortly after birth. The timely identification is crucial due to the asymptomatic nature of many conditions at birth, but which can lead to significant health complications if left untreated. Through this study, we aimed to investigate the incidence of IEMs screened by the Qatar National Newborn Screening Program.

methodsWe retrospectively analyzed a total of 351,223 newborns screened from 2010 to 2023. The incidence for the studied IEMs was calculated and correlated with demographics, consanguinity, and family history. In addition, the diagnostic yield of different tests utilized was assessed.

resultsOur study revealed a total of 318 positive cases with IEMs, and a significantly high incidence of 1:1105 for IEMs in Qatar. Classical Homocystinuria was the most frequently detected condition, with a cumulative incidence of 1:6754 live births, linked to the founder variant p. Arg336Cys in the

conclusionsOur study provides the incidence rates of IEMs in Qatar and novel insights that could facilitate setting up/developing IEM incidence-reducing strategies and improving outcomes for affected newborns and their families.

Indexed as

inborn errors of metabolismincidenceinherited metabolic disordersnewborn screeningQatarQatar National Newborn Screening Program

Identifiers

PMID40700042
PMCPMC12285972

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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.