TY - JOUR
T1 - Establishing a Newborn Screening Programme
T2 - A Success Story from a Low-Resource Setting
AU - Majid, Hafsa
AU - Jafri, Lena
AU - Ahmed, Sibtain
AU - Humayun, Khadija Nuzhat
AU - Kirmani, Salman
AU - Khan, Aysha Habib
N1 - Publisher Copyright:
© 2025 College of Physicians and Surgeons Pakistan. All rights reserved.
PY - 2025/3
Y1 - 2025/3
N2 - 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.
AB - 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.
KW - Clinical efficacy
KW - Congenital hypothyroidism
KW - Dried blood spot testing
KW - Newborn screening
UR - https://www.scopus.com/pages/publications/86000138174
U2 - 10.29271/jcpsp.2025.03.387
DO - 10.29271/jcpsp.2025.03.387
M3 - Article
AN - SCOPUS:86000138174
SN - 1022-386X
VL - 35
SP - 387
EP - 389
JO - Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
JF - Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
IS - 3
ER -