Neonatal Screening for Congenital Adrenal Hyperplasia in North-Eastern Italy: A Report Three Years into the Program

Abstract

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 ≧30 nmol/l was set both for term and preterm newborns. The values of 17-OHP were analysed usingstatistical 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 infantsand 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.

Nationwide Neonatal Screening for Congenital Adrenal Hyperplasia in Sweden

“…We used the Spearman rank correlation test to analyze the correlations between the PPV and gestational age and between the 17αhydroxyprogesterone level and CYP21A2 genotype. The Pearson product moment correlation test was used to correlate the reported sensitivity and years of follow-up in previous studies [11][12][13][14][15][16][17][18][19][20][21][22][23][24][25][26][27][28][29] (Table 1).…”

Results from 28 Years of Newborn Screening for Congenital Adrenal Hyperplasia in Sapporo

“…It has been reported that several cases of the NC form showed elevated 17-OHP levels and were identified by neonatal screening (2, 3, 23, 24). Identification of this form would require a lower cutoff value and entail a significant increase in false positive recalls.…”

Frequency and causes of adrenal crises over lifetime in patients with 21-hydroxylase deficiency

“…The unrecognized and thus untreated disease may lead to life-threatening SW crisis in the newborn period (2). Neonatal screening for classical 21-OHD, which is now routinely performed in most western countries, has significantly reduced the number of SW crises in neonates and thereby mortality rates during infancy (2,3,4,5). However, patients with classical CAH are at risk of lifethreatening adrenal crisis (AC) during their entire life (6,7).…”