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Published on: September 15, 2017
A three-year follow-up of congenital adrenal hyperplasia newborn screening
Isabela L Pezzuti1, Cristina B Barra1, Rafael M Mantovani2
1Department of Pediatrics, Division of Pediatric Endocrinology, Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, MG, Brazil.
Insights
Newborn screening for congenital adrenal hyperplasia (CAH) in Brazil identified the disease in 1:19,927 infants. Long-term follow-up is crucial for accurate diagnosis and incidence rates in public health policy.
Area of Science:
- Endocrinology
- Genetics
- Public Health
Background:
- Congenital adrenal hyperplasia (CAH) screening prevents mortality and misgendering in newborns.
- False positives in preterm/low-birth-weight infants pose diagnostic challenges.
Purpose of the Study:
- Report pilot project results for neonatal CAH screening in Minas Gerais, Brazil.
- Evaluate screening effectiveness with a three-year follow-up.
Main Methods:
- Dried blood spot samples analyzed for 17-hydroxyprogesterone via ELISA.
- Screening conducted on newborns from 09/2007 to 05/2008.
Main Results:
- Screened 159,415 newborns; initial CAH incidence 1:9,963.
- Revised incidence to 1:19,927 after follow-up reclassifications.
- False-positive rate 0.31%; positive predictive value 2.1%; sensitivity 100%; specificity 99.7%.
Conclusions:
- Newborn screening is vital for underdiagnosed CAH in developing countries like Brazil.
- Early identification of CAH is possible through screening.
- Long-term monitoring ensures accurate diagnosis and reliable incidence data.
Objective:
congenital adrenal hyperplasia (CAH) newborn screening can prevent neonatal mortality in children with the salt-wasting form of the disease and prevent incorrect gender assignments, which can occur in females. However, the occurrence of false-positive results in preterm or low-birth-weight newborns creates some diagnostic difficulties, with consequent therapeutic implications. This study aimed to report the results of a pilot project for neonatal CAH screening conducted in the state of Minas Gerais, Brazil from 09/2007 to 05/2008 with a three-year follow-up.
Methods:
dried blood specimens were collected on filter paper cards three to seven days after birth of all newborns in the period. Samples were analyzed for 17-hydroxyprogesterone using an enzyme-linked immunosorbent assay (ELISA).
Results:
a total of 159,415 children were screened. The apparent incidence of the classic variant of the disease was 1:9,963, based on initial diagnoses following newborn screening. During the follow-up period, eight of 16 children initially diagnosed with CAH were reclassified as unaffected, resulting in a revised incidence of 1:19,927. The false-positive rate was 0.31%, and the positive predictive value was 2.1%. Sensitivity and specificity were 100% and 99.7%, respectively.
Conclusions:
newborn screening is an important public health policy in developing countries such as Brazil, where CAH remains underdiagnosed. It has great potential to identify children with the disease who otherwise cannot be diagnosed earlier. Long-term follow-up and monitoring of all children with positive screening results are crucial to ensure a correct diagnosis and to calculate a reliable incidence ratio of the disease.
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