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Neonatal screening for congenital adrenal hyperplasia in North-Eastern Italy: a report three years into the program
Paolo Cavarzere1, Marta Camilot, Francesca Teofoli
1Department of Pediatrics, University of Verona, Verona, Italy. paolocavarzere@yahoo.it
Insights
Newborn screening for congenital adrenal hyperplasia (CAH) in Northern Italy identified an incidence of 1:21,380. Adjusting 17-hydroxyprogesterone (17-OHP) cut-offs for gestational age significantly reduced false positives in preterm infants.
Area of Science:
- Neonatal screening
- Endocrinology
- Public health
Background:
- Congenital adrenal hyperplasia (CAH) is a group of genetic disorders affecting the adrenal glands.
- Early detection through newborn screening is crucial to prevent life-threatening conditions like salt-wasting crises.
- The North-Eastern Italy screening program aimed to assess CAH incidence and optimize its screening protocol.
Purpose of the Study:
- To determine the incidence of CAH in the Northern Italian population.
- To evaluate the effectiveness of the existing newborn screening program for CAH.
- To refine 17-hydroxyprogesterone (17-OHP) cut-off levels based on gestational age and birth weight to improve screening accuracy.
Main Methods:
- A fluoroimmunoassay method was used to screen 128,282 neonates for 17-OHP levels.
- Initial cut-off levels were set, and data were statistically analyzed to adjust them according to gestational age and birth weight.
- The impact of adjusted cut-off levels on recall rates was compared.
Main Results:
- An incidence of CAH was found to be 1:21,380 in the screened population.
- An initial recall rate of 2.59% for preterm and 4.94% for low-birth-weight infants was observed.
- Implementing a gestational-age-related cut-off of 50 nmol/l for preterm newborns reduced recall rates to 0.83% for preterm and 1.83% for low-birth-weight infants.
Conclusions:
- The CAH screening program in North-Eastern Italy has successfully identified affected newborns, preventing severe health crises.
- Adjusting 17-OHP cut-off levels based on gestational age significantly improves the specificity of the screening program, particularly for preterm infants.
- The study supports the continuation of the gestational-age-related cut-off and advocates for a national CAH screening program.
Aims:
To evaluate the incidence of congenital adrenal hyperplasia (CAH) in the Northern Italian population and the efficiency of the North-Eastern Italy screening program. To adjust cut-off levels for 17-hydroxyprogesterone (17-OHP) in relation to gestational age and birth weight, comparing the benefits in terms of reduction of recall rates with the two approaches and ultimately choosing the better of the two.
Subjects And Methods:
Since September 2001, blood samples from neonates born in North-Eastern Italy have been screened with a fluoroimmunoassay method for 17-OHP determination (DELFIA). A preliminary cut-off level of > or = 30 nmol/l was set both for term and preterm newborns. The values of 17-OHP were analysed using statistical methods in relation to gestational age and birth weight in order to modify the cut-off on the basis of our data.
Results:
After 33 months of screening we screened 128,282 newborns and detected 6 affected babies. During the first 8 months of screening among the recalled babies, 89.6 and 78.1% were preterm and low-birth-weight newborns, respectively, with a recall rate of 2.59% for premature neonates and of 4.94% for babies with birth weights < 2,500 g. We chose a new cut-off value of 50 nmol/l for preterm newborns only and, after 4 months, the recall rate was reduced to 0.83% for these infants and to 1.83% for low-birth-weight infants.
Conclusion:
After 33 months of screening for CAH in North-Eastern Italy, we report an incidence of 1:21,380. In 5 out of 6 affected babies, the diagnosis was established only after a positive screening test, which prevented a severe salt-wasting crisis in these babies. The cut-off level related to gestational age led to a significant reduction in the number of false-positives among preterm babies.We therefore intend to continue with the screening program for CAH in North-Eastern Italy, keeping a gestational-age-related cut-off in the hope that our data may encourage a national screening program for CAH.
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