Evidence map›Paper›PMID 42782615›Full record

ArticleInternational journal of neonatal screening2026

Analytical Study Showing a False-Negative Limitation of Deletion-Based Newborn Screening for Spinal Muscular Atrophy Using a Compound Heterozygous

Yuichi Abe, Sato Suzuki-Muromoto, Motomichi Kosuga, Tetsuya Isayama, Go Tajima, Yasuhito Aoki, Nobuyuki Ishige, Yushi Ito

Abstract read
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. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

8 authors.

Yuichi AbeDivision of Neurology, National Center for Child Health and Development, Tokyo 157-8535, Japan.ORCID 0000-0003-3373-0029
Sato Suzuki-MuromotoDivision of Neurology, National Center for Child Health and Development, Tokyo 157-8535, Japan.
Motomichi KosugaCenter for Genetic Medicine, National Center for Child Health and Development, Tokyo 157-8535, Japan.
Tetsuya IsayamaDivision of Neonatology, National Center for Child Health and Development, Tokyo 157-8535, Japan.
Go TajimaDivision of Neonatal Screening, Research Institute, National Center for Child Health and Development, Tokyo 157-8535, Japan.ORCID 0000-0002-2398-0748
Yasuhito AokiDiagnostics Division, Sekisui Medical Co., Ltd., Tokyo 103-0027, Japan.
Nobuyuki IshigeDivision of Newborn Screening, Tokyo Health Service Association, Tokyo 162-0842, Japan.ORCID 0000-0002-1386-2705
Yushi ItoDivision of Neonatology, National Center for Child Health and Development, Tokyo 157-8535, Japan.

Funding

Japan Health Research Promotion Bureau JH2024-B-07Ministry of Health Labour and Welfare JPMH24FC1010
6 · The paper itself

Abstract

Newborn screening (NBS) facilitates the presymptomatic diagnosis and early treatment of spinal muscular atrophy (SMA). An analytical study was conducted to evaluate the performance and limitations of a real-time polymerase chain reaction-based SMA-NBS assay. Dried blood spot specimens collected from 21 newborns and three patients with genetically confirmed SMA were analyzed. The SMA controls included two patients with homozygous

Indexed as

compound heterozygous variantdried blood spotfalse-negative resultnewborn screeningSMN1spinal muscular atrophy

Identifiers

PMID42782615
PMCPMC13607524

What OpenQuestion holds

Textmetadata
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Registered trials

None linked

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.