Evidence map›Paper›PMID 41726583›Full record

ReviewPediatric investigation2026

Next-generation sequencing in newborn screening: Current status, challenges, and future perspectives.

Zhelan Huang, Wenhao Zhou

Abstract readReview
In one paragraph

Review in Pediatric investigation, 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

2 authors.

Zhelan HuangDivision of Neonatology Children's Hospital of Fudan University Shanghai China.ORCID https://orcid.org/0000-0002-0394-2242
Wenhao ZhouKey Laboratory of Birth Defects Children's Hospital of Fudan University Shanghai China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Newborn screening (NBS) is a key public health intervention that improves children's health outcomes by enabling precise intervention through the early detection of hereditary and metabolic diseases. With advances in genomic technology, genomic NBS (gNBS) is gradually overcoming the limitations of conventional biochemical NBS and emerging as an innovative approach. This review systematically summarizes the developmental trajectory of NBS, highlighting the transformative transition from conventional biochemical methods to genetic approaches. It also presents global initiatives and preliminary findings from gNBS practices. Although gNBS offers broad potential applications, several critical challenges must be addressed to optimize its clinical implementation. Comprehensive international collaboration is essential for advancing gNBS and enhancing newborn health worldwide.

Indexed as

Genomic newborn screeningNewborn screeningNext‐generation sequencing

Identifiers

PMID41726583
PMCPMC12921642

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

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.