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Establishing a Newborn Screening Programme: A Success Story from a Low-Resource Setting
Hafsa Majid1, Lena Jafri1, Sibtain Ahmed1
1Department of Pathology and Laboratory Medicine, The Aga Khan University, Karachi, Pakistan.
Summary
Newborn screening for congenital hypothyroidism (CH) in a tertiary center proved highly effective, identifying 27 cases with an incidence of 1:1126. Improving recall rates for positive screening results remains a key area for enhancement.
Area of Science:
- Endocrinology
- Neonatology
- Public Health
Background:
- Congenital hypothyroidism (CH) is a treatable condition requiring early diagnosis.
- Newborn screening (NBS) programs are crucial for timely detection and management of CH.
- Tertiary care centers play a vital role in managing complex pediatric endocrine disorders.
Purpose of the Study:
- To evaluate the clinical effectiveness of a newborn screening program for congenital hypothyroidism.
- To determine the incidence of CH within a defined population served by a tertiary care center.
- To assess the implementation and outcomes of NBS for CH over a five-year period.
Main Methods:
- Cross-sectional study design from January 2019 to December 2023.
- Dried blood spot (DBS) testing for Thyroid-Stimulating Hormone (TSH) in neonates >24 hours old.
- Confirmation of positive TSH results (>10 mIU/L) with serum TSH and Free T4 (FT4) levels, followed by pediatric endocrinologist referral.
Main Results:
- Screening coverage reached 96.2% of 31,610 total births, with 30,402 newborns screened.
- 1.9% (n=586) of neonates had positive initial screening results (TSH>10 mIU/L).
- CH was confirmed in 27 cases, yielding an incidence of 1:1126; confirmatory tests were performed in 63.13% of positive screens.
Conclusions:
- The newborn screening program for congenital hypothyroidism was successfully implemented and demonstrated high clinical effectiveness.
- The established incidence of CH at 1:1126 highlights the importance of ongoing screening efforts.
- Enhancing recall rates for neonates with initial positive screening results is necessary to further optimize the program's impact.
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