Oservational, retrospective, multicenter study focused on neonatal screening for Congenital Adreanl Hyperplasia.
The study refers to neonates who underwent neonatal screening for Congenital Adreanl Hyperplasia between January 2006 and December 2019 at participating centres, but only patients diagnosed with Congenital Adreanl Hyperplasia are enrolled in the study. The primary aims are: to assess the incidence of classic Congenital Adrenal Hyperplasia in neonates who underwent neonatal screening in the reporting period; to calculate the sensibility of Neonatal Screening for classic Congenital Adrenal Hyperplasia; to calculate the positive predictive rate. The secondary aims are: to describe the biochemical, hormonal, and clinical features of neonates at diagnosis of Congenital Adrenal Hyperplasia; to assess the time required for diagnosis; to calculate the false positive rate; to calculate the diagnostic impact of neonatal screening for Congenital Adrenal Hyperplasia.
Study Type
OBSERVATIONAL
Enrollment
29
IRCCS Azienda Ospedaliero-Universitaria di Bologna
Bologna, Bologna, Italy
IRCCS Ospedale San Raffaele
Milan, Milano, Italy
Azienda Ospedaliera Città della Salute e della Scienza di Torino
Torino, Torino, Italy
Azienda Ospedaliera Universitaria Integrata Verona:
Verona, Verona, Italy
Incidence of classic Congenital Adrenal Hyperplasia in neonates who underwent neonatal screening in the reporting period
number of patients diagnosed with classic Congenital Adrenal Hyperplasia between January 2006 and December 2019
Time frame: at baseline
Sensibility of Neonatal Screening for classic Congenital Adrenal Hyperplasia
Sensibility of Neonatal Screening
Time frame: at baseline
Positive predictive rate
TP / (TP + FP)
Time frame: at baseline
Neonatal clinical features at diagnosis of Congenital Adrenal Hyperplasia
gestational age (weeks)
Time frame: at baseline
Neonatal clinical features at diagnosis of Congenital Adrenal Hyperplasia
neonatal weight (g)
Time frame: at baseline
Neonatal biochemical features at diagnosis of Congenital Adrenal Hyperplasia
serum electrolytes
Time frame: at baseline
Neonatal hormonal features at diagnosis of Congenital Adrenal Hyperplasia
blood renin value (microU/mL)
Time frame: at baseline
Neonatal hormonal features at diagnosis of Congenital Adrenal Hyperplasia
blood plasma values of 17α-hydroxyprogesterone (ng/dL)
Time frame: at baseline
This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.
Time required for diagnosis of Congenital Adrenal Hyperplasia
Time required for diagnosis
Time frame: at baseline
False positive rate
TP / (TP + FP)
Time frame: at baseline
Diagnostic impact of neonatal screening for Congenital Adrenal Hyperplasia
ratio between the number of subjects with a suspected diagnosis and the number of subjects in whom the diagnosis was not suspected
Time frame: at baseline