Evidence map›Paper›PMID 39728398›Full record

ArticleInternational journal of neonatal screening2024

Newborn Genetic Screening Improves the Screening Efficiency for Congenital Hypothyroidism: A Prospective Multicenter Study in China.

Liang Ye, Yinhong Zhang, Jizhen Feng, Cidan Huang, Xiaohua Wang, Lianshu Han, Yonglan Huang, Hui Zou, Baosheng Zhu, Jingkun Miao

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of neonatal screening, 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

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

10 authors.

Liang YeDepartment of Pediatrics, Chongqing Health Center for Women and Children, Women and Children's Hospital of Chongqing Medical University, Chongqing 401147, China.
Yinhong ZhangDepartment of Medical Genetics, NHC Key Laboratory of Preconception Health in Western China, The First People's Hospital of Yunnan Province, Affiliated Hospital of Kunming University of Science and Technology, Kunming 650100, China.ORCID 0000-0002-2037-139X
Jizhen FengDepartment of Genetic, Shijiazhuang Maternal and Child Health Hospital, Shijiazhuang 050006, China.
Cidan HuangNeonatal Disease Screening Center, Hainan Women and Children's Medical Center, Haikou 570206, China.
Xiaohua WangDepartment of Genetics, Inner Mongolia Maternity and Child Health Care Hospital, Hohhot 750306, China.
Lianshu HanDepartment of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200092, China.
Yonglan HuangDepartment of Guangzhou Newborn Screening Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou 510623, China.ORCID 0000-0002-7527-3754
Hui ZouNeonatal Disease Screening Center, Jinan Maternity and Child Health Hospital Affiliated to Shandong First Medical University, Jinan 250001, China.
Baosheng ZhuDepartment of Medical Genetics, NHC Key Laboratory of Preconception Health in Western China, The First People's Hospital of Yunnan Province, Affiliated Hospital of Kunming University of Science and Technology, Kunming 650100, China.ORCID 0000-0002-5991-1752
Jingkun MiaoDepartment of Pediatrics, Chongqing Health Center for Women and Children, Women and Children's Hospital of Chongqing Medical University, Chongqing 401147, China.

Funding

Science and Technology Projects in Guangzhou 202201020618Scientific and Technological Research Program of Chongqing Municipal Education Commission KJQN202400416the Open Project of Yunnan Provincial Reproductive and Obstetrics and Gynecology Clinical Medicine Center 2022LCZXKF-SZ02
6 · The paper itself

Abstract

Newborn congenital hypothyroidism (CH) screening has been widely used worldwide. The objective of this study was to evaluate the effectiveness of applying biochemical and gene panel sequencing as screening tests for CH and to analyze the mutation spectrum of CH in China. Newborns were prospectively recruited from eight hospitals in China between February and December 2021. Clinical characteristics were collected. Second-generation sequencing was used to detect four CH-related genes, and the genetic patterns of the pathogenic genes were analyzed. We analyzed the relationship between genotype and biochemical phenotype. A total of 29,601 newborns were screened for CH. Gene panel sequencing identified 18 patients, including 10 patients affected by biochemically and genetically screened disorders and 8 patients affected by solely genetically screened disorders. The predictive positive value of genetic screening was 34.62%, which was much greater than that of biochemical screening alone (17.99%). A total of 94 cases of congenital thyroid dysfunction were confirmed by biochemical and genetic screening, including 30 CHs and 64 isolated hyperthyrotropinemia (HTT), with an incidence of 1/987 for CH and 1/463 for HTT, and a total incidence of 1/315 for hypothyroidism. The incidence rate and number of patients in Jinan were the highest, and the incidence rates in Shijiazhuang and Shanghai were the lowest. The gene mutation rate in this study was 19.1%, mainly

Indexed as

congenital hypothyroidismDUOX2genetic screeningnewborn screening

Identifiers

PMID39728398
PMCPMC11678242

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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.