DOI: 10.4103/azmj.azmj_37_26 ISSN: 1687-1693

Role of the egyptian neonatal screening program in the diagnosis of congenital hypothyroidism

Ahmed M. Youssef, Amira M.M. Hamed, Ahmed H. Ismail

Background and aim

Early identification and treatment of congenital hypothyroidism (CH) through neonatal screening programs are essential to prevent adverse outcomes. This study aimed to evaluate the performance and coverage of the Egyptian Neonatal Screening Program for CH in Armant city and its surrounding regions.

Patients and methods

A total of 3557 newborns underwent screening for CH for thyroid-stimulating hormone (TSH) levels. Infants with TSH levels more than or equal to 15 µIU/ml underwent a second screening, followed by confirmatory testing including TSH, T4, and free T4.

Results

Out of 3557 screened newborns, 64 infants tested positive for elevated TSH levels, yielding a positive predictive value of 54.69%. After confirmatory testing, 35 infants were diagnosed with CH, of which 82.9% had permanent CH and 17.1% had transient CH. The mean initial TSH level was 81.57±40.78 μIU/l. Maternal factors significantly associated with CH included advanced maternal age [odds ratio (OR)=1.05, 95% confidence interval (CI): 0.95–1.16, P =0.045], parental consanguinity (OR=4.8, 95% CI: 1.01–22.9, P =0.048), maternal glucocorticoid treatment (OR=7.2, 95% CI: 2.9–18.1, P <0.001), and maternal hypothyroidism (OR=5.1, 95% CI: 1.1–23.8, P =0.039).

Conclusion

The Egyptian Neonatal Screening Program in Armant city achieved a coverage rate of 63.3%, with a substantial proportion of CH cases being permanent. Elevated maternal age, parental consanguinity, and a history of maternal thyroid disorders were significant risk factors for CH. These findings highlight the importance of expanding screening coverage and addressing maternal health factors to improve neonatal outcomes in regions with high CH prevalence.