ArticleFrontiers in genetics2018
Newborn Screening and Molecular Profile of Congenital Hypothyroidism in a Chinese Population.
Article in Frontiers in genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 61 citations in OpenAlex.
- Is there are relationship between polymorphisms TSHR gene frequencies and genetic ancestry markers in patients with Primary Congenital Hypothyroidism?Genetics and molecular biology · 2025Article
- Newborn Genetic Screening Improves the Screening Efficiency for Congenital Hypothyroidism: A Prospective Multicenter Study in China.International journal of neonatal screening · 2024Article
- Sex-specific transgenerational effects on murine thyroid gland imposed by ancestral exposure to neonicotinoid thiacloprid.Scientific reports · 2024Article
- Associations between OGTT results during pregnancy and offspring TSH levels: a birth cohort study.BMC pregnancy and childbirth · 2024Article
- Preliminary study of noninvasive prenatal screening for 22q11.2 deletion/duplication syndrome using multiplex dPCR assay.Orphanet journal of rare diseases · 2023Article
- Molecular genetic screening of full-term small for gestational age.BMC pediatrics · 2023Article
- Combined genetic screening and traditional newborn screening to improve the screening efficiency of congenital hypothyroidism.Frontiers in pediatrics · 2023Article
- Genetic Factors Causing Thyroid Dyshormonogenesis as the Major Etiologies for Primary Congenital Hypothyroidism: Clinical and Genetic Characterization of 33 Patients.Journal of clinical medicine · 2022Article
- Clinical evaluation of non-invasive prenatal screening for the detection of fetal genome-wide copy number variants.Orphanet journal of rare diseases · 2022Article
- Screening of 23 candidate genes by next-generation sequencing of patients with permanent congenital hypothyroidism: novel variants in TG, TSHR, DUOX2, FOXE1, and SLC26A7.Journal of endocrinological investigation · 2022Article
- NKX2-5 Variant in Two Siblings with Thyroid Hemiagenesis.International journal of molecular sciences · 2022Article
- Molecular Genetic Screening of Neonatal Intensive Care Units: Hyperbilirubinemia as an Example.The application of clinical genetics · 2022Article
- Are We Ready for Newborn Genetic Screening? A Cross-Sectional Survey of Healthcare Professionals in Southeast China.Frontiers in pediatrics · 2022Article
- Article
- Further Evidence That Defects in Main Thyroid Dysgenesis-Related Genes Are an Uncommon Etiology for Primary Congenital Hypothyroidism in Mexican Patients: Report of Rare Variants inChildren (Basel, Switzerland) · 2021Article
- Congenital hepatic fibrosis in a young boy with congenital hypothyroidism: A case report.World journal of clinical cases · 2021Article
- Analysis of Mutation Spectra of 28 Pathogenic Genes Associated With Congenital Hypothyroidism in the Chinese Han Population.Frontiers in endocrinology · 2021Article
- Screening and Functional Analysis ofFrontiers in endocrinology · 2021Article
- Comprehensive Evaluation of Non-invasive Prenatal Screening to Detect Fetal Copy Number Variations.Frontiers in genetics · 2021Article
- Prenatal Diagnostic Testing Following High-Risk Result from Serological Screening: Which Shall We Select?International journal of women's health · 2021Article
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
To review the characteristics of newborn screening of congenital hypothyroidism (CH), we reviewed the newborn screening data, including the levels of blood spot thyroid-stimulating hormone (TSH), and serum TSH and free thyroxine (FT4), of all newborn infants who accepted the newborn screening program during the last 14 years. In total, 437,342 newborn infants underwent CH screening and 192 infants were diagnosed with CH and the incidence of CH was 1:2278. The positive rate of the initial screening was 0.96%, and the positive predictive value was 4.8%. We also designed a target sequencing panel including 13 causative genes:
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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.