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.

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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
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article

Establishing a Newborn Screening Programme: A Success Story from a Low-Resource Setting

Khadija Nuzhat Humayun, Sibtain Ahmed, Salman Kirmani, Lena Jafri et al.
Journal of College of Physicians And Surgeons Pakistan
Metabolism and Genetic Disorders
article

Establishing a Newborn Screening Programme: A Success Story from a Low-Resource Setting

Khadija Nuzhat Humayun, Sibtain Ahmed, Salman Kirmani, Lena Jafri, Aysha Habib Khan, Hafsa Majid
article en

Abstract

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.

Journal of College of Physicians And Surgeons PakistanVol. 35(03)
Aga Khan University (PK)
Openalex Percentile: Top 95%
Metabolism and Genetic Disorders
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