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Newborn Screening for Congenital Hypothyroidism
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Newborn Screening for Congenital Hypothyroidism

A special issue of International Journal of Neonatal Screening (ISSN 2409-515X).

Deadline for manuscript submissions: 31 March 2025 | Viewed by 7756

Special Issue Editors

Dr. Ernest M. Post

E-Mail Website
Guest Editor
Cooper Medical School, Rowan University, Camden, NJ 08103, USA
Interests: newborn screening; CH
Dr. Natasha Heather

E-Mail Website
Guest Editor
1. New Zealand Newborn Metabolic Screening Programme, LabPlus, Te Whatu Ora Te Toka Tumai Auckland, Auckland, New Zealand
2. Liggins Institute, University of Auckland, Auckland 1023, New Zealand
Interests: newborn screening; CAH; CH; quality improvements; screening outcomes
Special Issues, Collections and Topics in MDPI journals
Dr. Ralph Fingerhut

E-Mail Website
Guest Editor
Newborn Screening and Metabolic Laboratory, Synlab MVZ Weiden, D-92637 Weiden, Germany
Interests: neonatal screening; process quality; knowledge scharing and education; new technologies in NBS; new applications in NBS; multiparameter analysis
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Newborn screening for congenital hypothyroidism (CH) was first introduced in the 1970s. Untreated CH leads to intellectual disability, and worldwide experience has shown that prompt diagnosis followed by early, adequate treatment can dramatically improve the outcome. Of great concern, 70% of neonates worldwide still do not have access to CH screening. Primary CH can be caused by a developmental malformation of the gland (thyroid dysgenesis) or a defect in the synthesis of thyroid hormones (dyshormonogenesis). A genetic cause can currently be identified in more than 50% of dyshormonogenesis cases, but the etiology of thyroid dysgenesis is mostly unknown. Over time, the screening methodology and laboratory strategies used to detect CH have changed; several different screening strategies remain in use worldwide, including TSH testing alone, 1st tier TSH and 2nd tier T4 testing, or vice versa, or both TSH and T4 testing in parallel. Therefore, despite 50 years of experience of CH screening in some parts of the world, many questions remain unanswered.

This Special Issue will focus on key contemporary issues surrounding newborn screening for CH. These key issues include improving and evaluating testing algorithms (e.g., CLIR), establishing CH screening in low- and middle-income countries, and evaluating cost-effectiveness and long-term outcomes. Additional considerations include screening in special populations, e.g., preterm infants, and screening for central hypothyroidism, monogenic CH, and MCT-8.

Dr. Ernest M. Post
Dr. Natasha Heather
Dr. Ralph Fingerhut
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Neonatal Screening is an international peer-reviewed open access quarterly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 1600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • congenital hypothyroidism
  • thyroxin
  • TSH
  • newborn screening

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Published Papers (5 papers)

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Research

13 pages, 1644 KiB  
Article
Newborn Genetic Screening Improves the Screening Efficiency for Congenital Hypothyroidism: A Prospective Multicenter Study in China
by Liang Ye, Yinhong Zhang, Jizhen Feng, Cidan Huang, Xiaohua Wang, Lianshu Han, Yonglan Huang, Hui Zou, Baosheng Zhu and Jingkun Miao
Int. J. Neonatal Screen. 2024, 10(4), 78; https://doi.org/10.3390/ijns10040078 - 29 Nov 2024
Viewed by 380
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 [...] Read more.
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 DUOX2 mutation. The most common variant of DUOX2 was c.1588A>T(p.Lys530*). There was only a difference in sFT4 between groups with gene mutations and those without mutations. Genetic screening is a supplement to biochemical screening. Combining biochemical screening with genetic screening is useful for improving screening efficiency. The incidence of CH in China according to a multicenter study of nearly 30,000 NBS surveys was 1/315. DUOX2 gene mutations are commonly detected in these patients. Full article
(This article belongs to the Special Issue Newborn Screening for Congenital Hypothyroidism)
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10 pages, 866 KiB  
Article
Managing Newborn Screening Repeat Collections for Sick and Preterm Neonates
by Ronda F. Greaves, Jo-Ann Northfield, Lauren Cross, Nazha Mawad, Thanh Nguyen, Maggie Tan, Michele A. O’Connell and James Pitt
Int. J. Neonatal Screen. 2024, 10(3), 63; https://doi.org/10.3390/ijns10030063 - 16 Sep 2024
Viewed by 1306
Abstract
Some preterm and sick neonates have altered biochemical profiles and follow-up newborn screening (NBS) collections are recommended. The Victorian NBS program historically recommended repeat collections for babies with birth weight < 1500 g (managed by the maternity service provider) and 3 weeks post-transfusion [...] Read more.
Some preterm and sick neonates have altered biochemical profiles and follow-up newborn screening (NBS) collections are recommended. The Victorian NBS program historically recommended repeat collections for babies with birth weight < 1500 g (managed by the maternity service provider) and 3 weeks post-transfusion (managed by the laboratory). We aimed to determine adherence to current guidelines and review the guidelines to improve NBS performance. To do this, we audited data from 348,584 babies between January 2018 and June 2022. Babies with a recorded birth weight of <1500 g were filtered for inclusion. For the overall review and visualization of the protocol, we sourced information from the literature, our professional society and tertiary hospital services. A total of 2647 babies had a birth weight recorded between 200 and 1499 g. Of these, 2036 (77%) had a second sample collected, indicating that >1 in 5 babies were not receiving a follow-up collection. Our timing of repeat collections for transfused babies, requiring a 3-week follow-up collection, was longer than in other Australasian jurisdictions. A new combined “sick–prem protocol” was launched to support repeat collections and after a 1-year review achieved 95% compliance. We recommend NBS laboratories audit preterm and sick neonate repeat collections to ensure appropriate follow-up. This should be supported with a visual process map to aid education and compliance. Full article
(This article belongs to the Special Issue Newborn Screening for Congenital Hypothyroidism)
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11 pages, 677 KiB  
Article
Impact of Lowering TSH Cut-Off on Neonatal Screening for Congenital Hypothyroidism in Minas Gerais, Brazil
by Nathalia Teixeira Palla Braga, Jáderson Mateus Vilela Antunes, Enrico Antônio Colosimo, Vera Maria Alves Dias, José Nélio Januário and Ivani Novato Silva
Int. J. Neonatal Screen. 2024, 10(3), 52; https://doi.org/10.3390/ijns10030052 - 18 Jul 2024
Viewed by 1229
Abstract
A higher incidence of primary congenital hypothyroidism (CH) has been related to increased sensitivity in neonatal screening tests. The benefit of treatment in mild cases remains a topic of debate. We evaluated the impact of reducing the blood-spot TSH cut-off (b-TSH) from 10 [...] Read more.
A higher incidence of primary congenital hypothyroidism (CH) has been related to increased sensitivity in neonatal screening tests. The benefit of treatment in mild cases remains a topic of debate. We evaluated the impact of reducing the blood-spot TSH cut-off (b-TSH) from 10 (Group 2) to 6 mIU/L (Group 1) in a public neonatal screening program. During the study period, 40% of 123 newborns with CH (n = 162,729; incidence = 1:1323) had b-TSH between 6 and 10 mIU/L. Group 1 patients had fewer clinical signs (p = 0.02), lower serum TSH (p < 0.01), and higher free T4 (p < 0.01) compared to those in Group 2 at diagnosis. Reducing the b-TSH cut-off from 10 to 6 mIU/L increased screening sensitivity, allowing a third of diagnoses, mainly mild cases, not being missed. However, when evaluating the performances of b-TSH cut-offs (6, 7, 8, 9, and 10 mIU/L), the lower values were associated with low positive predictive values (PPVs) and unacceptable increased recall rates (0.57%) for a public health care program. A proposed strategy is to adopt a higher b-TSH cut-off in the first sample and a lower one in the subsequent samples from the same child, which yields a greater number of diagnoses with an acceptable PPV. Full article
(This article belongs to the Special Issue Newborn Screening for Congenital Hypothyroidism)
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11 pages, 1255 KiB  
Article
Evaluation of the First Three Years of Treatment of Children with Congenital Hypothyroidism Identified through the Alberta Newborn Screening Program
by Iveta Sosova, Alyssa Archibald, Erik W. Rosolowsky, Sarah Rathwell, Susan Christian and Elizabeth T. Rosolowsky
Int. J. Neonatal Screen. 2024, 10(2), 35; https://doi.org/10.3390/ijns10020035 - 2 May 2024
Viewed by 1635
Abstract
The effectiveness of newborn screening (NBS) for congenital hypothyroidism (CH) relies on timely screening, confirmation of diagnosis, and initiation and ongoing monitoring of treatment. The objective of this study was to ascertain the extent to which infants with CH have received timely and [...] Read more.
The effectiveness of newborn screening (NBS) for congenital hypothyroidism (CH) relies on timely screening, confirmation of diagnosis, and initiation and ongoing monitoring of treatment. The objective of this study was to ascertain the extent to which infants with CH have received timely and appropriate management within the first 3 years of life, following diagnosis through NBS in Alberta, Canada. Deidentified laboratory data were extracted between 1 April 2014 and 31 March 2019 from Alberta Health administrative databases for infants born in this time frame. Time to lab collection was anchored from date of birth. Timeliness was assessed as the frequency of monitoring of Thyroid Stimulating Hormone (TSH) and appropriateness as the frequency of children maintaining biochemical euthyroidism. Among 160 term infants, 95% had confirmation of diagnosis by 16 days of age. The cohort had a median of 2 (range 0–5) TSH measurements performed in the time interval from 0 to 1 month, 4 (0–12) from 1 to 6 months, 2 (0–10) from 6 to 12 months, and 7 (0–21) from 12 to 36 months. Approximately half were still biochemically hypothyroid (TSH > 7 mU/L) at 1 month of age. After becoming euthyroid, at least some period of hypo- (60%) or hyperthyroidism (TSH < 0.2 mU/L) (39%) was experienced. More work needs to be performed to discern factors contributing to prolonged periods of hypothyroidism or infrequent lab monitoring. Full article
(This article belongs to the Special Issue Newborn Screening for Congenital Hypothyroidism)
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13 pages, 209 KiB  
Article
Experiences and Challenges with Congenital Hypothyroidism Newborn Screening in Indonesia: A National Cross-Sectional Survey
by Aman Bhakti Pulungan, Helena Arnetta Puteri, Muhammad Faizi, Paul Leslie Hofman, Agustini Utari and Jean-Pierre Chanoine
Int. J. Neonatal Screen. 2024, 10(1), 8; https://doi.org/10.3390/ijns10010008 - 19 Jan 2024
Cited by 1 | Viewed by 2035
Abstract
The expansion of newborn screening (NBS) for congenital hypothyroidism (CH) is essential to reducing the number of preventable intellectual disabilities in children. Because of logistical issues, including geographic extremes, distinct cultures, and 4.8 million births annually, Indonesia has struggled to achieve universal NBS [...] Read more.
The expansion of newborn screening (NBS) for congenital hypothyroidism (CH) is essential to reducing the number of preventable intellectual disabilities in children. Because of logistical issues, including geographic extremes, distinct cultures, and 4.8 million births annually, Indonesia has struggled to achieve universal NBS coverage. A national cross-sectional electronic survey was conducted to explore challenges in CH NBS. Responses from 423 healthcare professionals and program administrators across 30 provinces in Indonesia were collected. The major challenges reported were refusal from families (39.2%), newborns being discharged <24 h (38.3%), and limited availability of filter paper (35.9%). The respondents considered refusal from families to be due to fear, while others did not understand the necessity of CH NBS. The vast majority of respondents believed that parents do not have sufficient understanding regarding CH NBS (96.5%). Our study found that only 38.5% of respondents had received formal CH NBS training, with pediatric endocrinologists being the only profession in which all respondents had been trained. Concerted efforts are needed to improve the access to and availability of resources, increase the capacity for sample collection and analysis, empower healthcare professionals, and develop educational resources to promote understanding and acceptance of NBS amongst families. Full article
(This article belongs to the Special Issue Newborn Screening for Congenital Hypothyroidism)
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