Lessons of screening two million newborns for congenital adrenal hyperplasia: 10-year experience of the minas gerais public health program

C Botelho Barra; G Souza Sena; H Pereira Oliveira; Gonzaga ALAC de Paula; R Ferreira Araujo; T Ramos Villela; R Machado Mantovani; J Nelio Januario; I Novato Silva

doi:10.1530/ey.22.13.10

13.10

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ESPE Yearbook of Paediatric Endocrinology (2025) 22 13.10 | DOI: 10.1530/ey.22.13.10

ESPEYB25 13. Global Health for the Paediatric Endocrinologist Newborn Screening (3 abstracts)

13.10. Lessons of screening two million newborns for congenital adrenal hyperplasia: 10-year experience of the minas gerais public health program

Botelho Barra C , Souza Sena G , Pereira Oliveira H , de Paula Gonzaga ALAC , Ferreira Araújo R , Ramos Villela T , Machado Mantovani R , Nélio Januário J & Novato Silva I

J Pediatr (Rio J). 2025 May-Jun;101(3):341-348. PMID: 39933694 doi: 10.1016/j.jped.2024.10.012

Brief Summary: This study presents a descriptive and retrospective evaluation of the Newborn Screening (NBS) program for congenital adrenal hyperplasia (CAH) in Minas Gerais state, Brazil, over a 10-year period. It reviews the system’s implementation, issues with false-positive results and regional disparities.

The Minas Gerais State NBS program for 21-OH deficient CAH started in 2013. Results up to 2023 show an incidence consistent with that estimated in Brazil as a whole. Specimens are collected at days 3-5 after birth, generally at pediatric visits with coverage of 90% of births. The program uses a single-tier screening strategy with combined gestational age and birth weight-adjusted 17OHP thresholds. This approach has been effective in reducing false positives without needing expensive second-tier tests like LC-MS/MS. The program’s positive predictive value increased from 2.1% in 2013 to 10.5% by 2023, largely due to changes in assay specificity and alterations in cut-off values.

Despite their highly effective program, the Minas Gerais State NBS program faces logistical challenges due to the state’s large geographic size. 85% of salt-wasting cases were diagnosed via NBS after 14 days, with consequent delays in treatment and increased risks. However, no deaths were recorded due to late diagnosis. Babies diagnosed with CAH are referred to a multi-disciplinary program including pediatric endocrinologists, psychologists, and geneticists. The COVID-19 pandemic pushed the program to expand telemedicine services for consultations and management of false-positive referrals. This has shown promising results in terms of reducing unnecessary in-person visits, particularly for families in remote areas.

There are significant regional disparities in Brazil despite a national mandate since 2013, with programs in the South and Southeast regions being more efficient than in other areas. The private healthcare system has also contributes to inequities in access to follow-up care for children diagnosed through NBS. Coordination between the public and private healthcare sectors would likely improve these disparities.

The program’s experience offers important lessons for other regions in Latin America and globally, particularly in addressing equity, improving screening protocols, and enhancing long-term follow-up.