Newborn Screening for Congenital Hypothyroidism
A special issue of International Journal of Neonatal Screening (ISSN 2409-515X).
Deadline for manuscript submissions: 31 December 2024 | Viewed by 5862
Special Issue Editors
Interests: newborn screening; CH
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
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
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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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