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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.
Insights
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.
Objective:
The effectiveness of neonatal screening for reducing morbimortality in children with congenital adrenal hyperplasia (CAH) is the main justification for its implementation. One of the challenges for its implementation is to determine the cutoff value for laboratory measurement of 17-hydroxyprogesterone (17OHP) with appropriate cost-effectiveness. This study identified factors affecting the results of the pilot project of newborn screening for CAH, performed in the state of Minas Gerais, Brazil.
Methods:
Neonatal screening performed between September, 2007 and May, 2008, with 17OHP measurements performed in blood samples taken from the heel (filter paper), on the 5(th) day of life, processed by the UMELISA 17-OH Progesterona NEONATAL(®) method. The cutoff value was 80 and 160 nmol/L for healthy children or not, respectively.
Results:
The incidence of CAH was 1:19,939 in 159,415 children screened. The 99(th) percentile (p99) of 17OHP in the first sample was 108 nmol/L. In 13,298 newborns whose weight had been reported, the p99 of 17OHP were, respectively: 344 nmol/L for weight < 1,500 g; 260 nmol/L for weight between 1,500 and 1,999 g; 221 nmol/L for weight between 2,000 and 2,499 g; 109 nmol/L for weight ≥ 2,500g. The rate of recall for medical consultation was 0.31%. The test sensitivity was 100%, specificity was 99.6%, and the positive predictive value was 2.2%. By adjusting the cutoff values of 17OHP to 110 nmol/L and 220 nmol/L, a 76% decrease in consultation referrals was projected.
Conclusion:
The use of 17OHP cutoff values, considering birth weight, was a cost-effective measure to reduce false positives. The results of this pilot study suggest that screening for CAH might benefit the pediatric population.
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