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Neonatal screening for congenital adrenal hyperplasia using a microfilter paper method for
Insights
Newborn screening for 21-hydroxylase deficiency using 17-hydroxyprogesterone (17-OHP) assays in Italy identified a prevalence of 1 in 5,558 infants. This study highlights the effectiveness of early detection for congenital adrenal hyperplasia.
Area of Science:
- Endocrinology
- Neonatal Screening
- Genetics
Background:
- Congenital adrenal hyperplasia (CAH) is a group of genetic disorders affecting the adrenal glands.
- 21-hydroxylase deficiency is the most common form of CAH, leading to hormonal imbalances.
- Early detection through newborn screening is crucial for timely intervention and management.
Purpose of the Study:
- To determine the incidence of 21-hydroxylase deficiency in a large cohort of newborns in Emilia-Romagna, Italy.
- To evaluate the efficacy of 17-hydroxyprogesterone (17-OHP) screening in identifying cases of 21-hydroxylase deficiency.
- To establish population-specific prevalence data for this condition.
Main Methods:
- Analysis of 22,233 capillary blood samples collected on filter paper from newborns.
- Measurement of 17-hydroxyprogesterone (17-OHP) levels using a modified micromethod.
- Implementation of a two-tier assay system with a threshold of 20 pg/disk for initial screening and confirmation.
Main Results:
- A total of 22,233 infants were screened for 17-OHP levels.
- 0.18% of cases required a second assay due to elevated initial 17-OHP values.
- Pathologic 17-OHP levels were confirmed in 4 neonates, indicating an incidence of 1 in 5,558 for 21-hydroxylase deficiency.
Conclusions:
- The study established the incidence of 21-hydroxylase deficiency in the Emilia-Romagna region of Italy.
- Newborn screening using 17-OHP assays is an effective method for detecting this condition.
- The findings contribute valuable epidemiological data for CAH.
Abstract:
We examined 22,233 infants born in Emilia-Romagna (Italy). Capillary blood samples for 17-OH-progesterone assay were collected on the 3rd, 4th, 5th, 6th or 7th day of life on filter paper of the same type used for the screening of aminoacidopathy and hypothyroidism. 17-OH-progesterone values were determined using a micromethod modified from that of Pang and co-workers. 20 pg/disk was considered as a threshold value and called for a second assay, which was performed in 0.18% of the cases. Pathologic values of 17-OH-progesterone were confirmed in the serum of 4 neonates. In our population the incidence of 21-hydroxylase deficiency was found to be 1 out of 5,558 cases.