ArticleFrontiers in pediatrics2023
Combined genetic screening and traditional newborn screening to improve the screening efficiency of congenital hypothyroidism.
Article in Frontiers in pediatrics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
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Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it, 11 citations in OpenAlex.
- Evaluating whole genome sequencing for rare diseases in newborn screening: evidence synthesis from a series of systematic reviews.Health technology assessment (Winchester, England) · 2025Pooled it
- Multiplexable, High-Throughput DNA-Based Technologies in Screening and Confirmatory Testing of Newborn Conditions: A Scoping Review.International journal of neonatal screening · 2025Review
- A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.JAMA network open · 2025Article
- Newborn screening and the screening laboratory: past, present and future.European thyroid journal · 2025Review
- Screening of 50,539 newborns for congenital hypothyroidism: optimization of TSH cut-off values and seasonal impact in clinical practice.Frontiers in endocrinology · 2025Article
- Challenges in evaluating whole genome sequencing for newborn screening: series of systematic reviews and roadmap for evidence generation for policy advisers.BMJ medicine · 2025Article
- Revealing the genotype-phenotype correlations of congenital hypothyroidism in Yunnan Province, Southwest China.Frontiers in endocrinology · 2025Article
- Newborn Genetic Screening Improves the Screening Efficiency for Congenital Hypothyroidism: A Prospective Multicenter Study in China.International journal of neonatal screening · 2024Article
- Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023).International journal of neonatal screening · 2024Review
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Congenital hypothyroidism (CH) is an neonatal endocrine disorder. Traditional newborn screening is the mainstream method of CH screening, so as to ensure the early detection and treatment of CH. This method is limited as it has high rates of false positives and negatives. Genetic screening can be used to address the shortcomings of traditional newborn Screening (NBS); however, the comprehensive clinical value of genetic screening is yet to be systematically studied. Methods: A total of 3,158 newborns who accepted the newborn screening and genetic screening were recruited for this study. Biochemical screening and genetic screening were performed at the same time. The level of TSH with the DBS was detected by time-resolved immunofluorescence assay. High-throughput sequencing technology based on targeted gene capture was used for genetic screening. The suspected neonatal was recalled and tested serum TSH, and FT4. Finally, the effectiveness of traditional NBS and combined screening was compared. Results: In this study, 16 cases were diagnosed by traditional NBS. 10 cases of Conclusions: Combined traditional NBS and genetic screening reduces the false negative rate of CH screening and improves the early and accurate identification of neonates with CH. Our research explains the mutation spectrum of CH in this region, and provisionally demonstrates the necessity, feasibility and significance of genetic screening in newborns and provides a solid basis for future clinical developments.
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