Evidence map›Paper›PMID 39526114›Full record

ArticlePractical laboratory medicine2024

A novel case of Hb Bart's hydrops fetalis following prenatal diagnosis: Case report from Huizhou, China.

Zeyan Zhong, Dina Chen, Zhiyang Guan, Guoxing Zhong, Zhiyong Wu, Jianmin Chen, Jianhong Chen

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Practical laboratory medicine, 2024. 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

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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

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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

7 authors.

Zeyan ZhongDepartment of Medical Genetics and Prenatal Diagnosis, Huizhou First Maternal and Child Health Care Hospital, Huizhou, Guangdong, China.
Dina ChenDepartment of Medical Genetics and Prenatal Diagnosis, Huizhou First Maternal and Child Health Care Hospital, Huizhou, Guangdong, China.
Zhiyang GuanDepartment of Medical Genetics and Prenatal Diagnosis, Huizhou First Maternal and Child Health Care Hospital, Huizhou, Guangdong, China.
Guoxing ZhongDepartment of Medical Genetics and Prenatal Diagnosis, Huizhou First Maternal and Child Health Care Hospital, Huizhou, Guangdong, China.
Zhiyong WuDepartment of Medical Genetics and Prenatal Diagnosis, Huizhou First Maternal and Child Health Care Hospital, Huizhou, Guangdong, China.
Jianmin ChenDepartment of Ultrasonography, Huizhou First Maternal and Child Health Care Hospital, Huizhou, Guangdong, China.
Jianhong ChenDepartment of Medical Genetics and Prenatal Diagnosis, Huizhou First Maternal and Child Health Care Hospital, Huizhou, Guangdong, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objective: Presentation of a novel case of a patient with Hb Bart's hydrops fetalis, which was accurately identified by SMRT sequencing leading to expand the mutation spectrum of α-thalassemia. Case report: A 26-year-old pregnant woman and her husband underwent molecular analysis of thalassemia due to abnormal hematological results. The molecular analysis showed that the pregnant woman carried -α Conclusion: It is imperative that Hb Bart's hydrops fetalis syndrome be diagnosed with the utmost expediency. If results of molecular analysis are not consistent with the clinical hematological findings, the presence of a novel thalassemia could be suspected. To identify the novel genotype, the SMRT sequencing represents an effective method for achieving an accurate diagnosis.

Indexed as

Alpha-thalassemiaHb Bart's hydrops fetalisNovel deletionSingle-molecule real-time sequencing

Identifiers

PMID39526114
PMCPMC11549990

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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.