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Published on: August 25, 2014
Neonatal screening for congenital adrenal hyperplasia
Cristina Botelho Barra1, Ivani Novato Silva, Isabela Leite Pezzuti
1Faculdade de Medicina, Universidade Federal do Minas Gerais, Belo Horizonte, MG, Brasil.
Revista Da Associacao Medica Brasileira (1992)
|August 30, 2012
Summary
Implementing newborn screening for congenital adrenal hyperplasia (CAH) using 17-hydroxyprogesterone (17OHP) cutoff values adjusted for birth weight is cost-effective. This approach reduces false positives and can benefit the pediatric population.
Area of Science:
- Biochemistry
- Pediatrics
- Public Health
Background:
- Congenital adrenal hyperplasia (CAH) screening aims to reduce infant morbimortality.
- Establishing cost-effective laboratory cutoff values for 17-hydroxyprogesterone (17OHP) is crucial for CAH screening implementation.
- A pilot study was conducted in Minas Gerais, Brazil, to identify factors influencing CAH newborn screening results.
Purpose of the Study:
- To identify factors affecting the results of a pilot newborn screening program for CAH.
- To determine optimal cost-effective cutoff values for 17-hydroxyprogesterone (17OHP) measurements in neonatal screening for CAH.
Main Methods:
- Neonatal screening for CAH was performed between September 2007 and May 2008.
- 17OHP levels were measured in blood samples collected on filter paper on the 5th day of life using the UMELISA 17-OH Progesterona NEONATAL® method.
- Initial cutoff values were set at 80 nmol/L and 160 nmol/L.
Main Results:
- The incidence of CAH was 1:19,939 among 159,415 screened infants.
- The 99th percentile (p99) for 17OHP in the initial sample was 108 nmol/L.
- Adjusting 17OHP cutoff values based on birth weight (e.g., 110 nmol/L for ≥2,500g and 220 nmol/L for 2,000-2,499g) could decrease consultation referrals by 76% while maintaining 100% sensitivity and 99.6% specificity.
Conclusions:
- Utilizing 17OHP cutoff values that consider birth weight is a cost-effective strategy to minimize false positives in CAH screening.
- The pilot study results indicate that CAH screening can be beneficial for the pediatric population.
- Optimized cutoff values enhance the efficiency and reliability of neonatal CAH screening programs.
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