Establishing a Newborn Screening Programme: A Success Story from a Low-Resource Setting
The purpose of this communication was to assess the clinical effectiveness of a newborn screening (NBS) programme for congenital hypothyroidism (CH) in a tertiary care centre. This cross-sectional study was conducted from January 2019 to December 2023. Thyroid-stimulating hormone (TSH) on dried blood spot (DBS) specimens collected after 24 hours of birth with >10 mIU/L was further confirmed by testing serum TSH and FT4, and CH cases were referred to a paediatric endocrinologist for management. During the study period, coverage of NBS was tracked. Over a four-year period, 30,402 newborns were screened, with 96.2% coverage (total births-31610). Positive screening results (TSH>10 mIU/L) were found in 1.9% of neonates (n = 586), with confirmatory tests performed in 63.13% (n = 370) of these cases. CH was confirmed in 27 cases, with an incidence of 1:1126. This study demonstrated that NBS for CH was successfully implemented and highly effective. However, there is a need to further improve recall rates. Key Words: Congenital hypothyroidism, Dried blood spot testing, Newborn screening, Clinical efficacy.
Authors
- Khadija Nuzhat Humayun (ORCID: https://orcid.org/0000-0002-8580-2154)
- Sibtain Ahmed (ORCID: https://orcid.org/0000-0003-0316-2622)
- Salman Kirmani (ORCID: https://orcid.org/0000-0003-2039-5233)
- Lena Jafri (ORCID: https://orcid.org/0000-0001-6807-5429)
- Aysha Habib Khan (ORCID: https://orcid.org/0000-0001-7693-5740)
- Hafsa Majid (ORCID: https://orcid.org/0000-0001-7506-7988)
Institutions
- Aga Khan University (PK)
Publication Details
- Journal
- Journal of College of Physicians And Surgeons Pakistan
- Published
- 2025-03-01
- DOI
- https://doi.org/10.29271/jcpsp.2025.03.387
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00