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Nationwide neonatal screening for congenital adrenal hyperplasia in sweden: a 26-year longitudinal prospective
Sebastian Gidlöf1, Anna Wedell2, Claes Guthenberg3
1Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden2Department of Obstetrics and Gynecology, Karolinska University Hospital, Stockholm, Sweden.
Insights
Neonatal screening for congenital adrenal hyperplasia (CAH) effectively identifies the salt-wasting form, reducing mortality. However, sensitivity for milder CAH forms is lower, especially in preterm infants, necessitating program improvements.
Area of Science:
- Pediatric Endocrinology
- Neonatal Screening
- Genetics
Background:
- Recent reports question the efficacy of neonatal screening for congenital adrenal hyperplasia (CAH).
- Concerns include low sensitivity for salt-wasting forms and high recall rates in preterm infants.
Purpose of the Study:
- To evaluate the long-term efficiency of Sweden's neonatal screening program for CAH.
- To assess the program's sensitivity, specificity, and predictive values over time.
Main Methods:
- A longitudinal, prospective, population-based study in Sweden from 1986 to 2011.
- Screening outcomes for 2,737,932 infants were analyzed.
- CYP21A2 genotype investigated in 219 true-positive cases.
Main Results:
- The screening demonstrated high sensitivity for salt-wasting CAH (143 cases identified, none missed).
- Sensitivity was lower for simple virilizing (79.7%) and nonclassic (32.4%) forms.
- Positive predictive value was higher in full-term (25.1%) vs. preterm (1.4%) infants; recall rates were lower in full-term (0.03%) vs. preterm (0.57%) infants.
Conclusions:
- Neonatal screening for CAH is effective in detecting the salt-wasting form, significantly reducing mortality.
- Screening sensitivity for milder CAH forms is reduced, with late-onset cases identified later.
- Improvements are needed to enhance screening effectiveness in preterm infants.
Importance:
Recent reports have questioned the rationale for neonatal screening for congenital adrenal hyperplasia (CAH) owing to low sensitivity in salt-wasting forms and a high rate of recall (ie, a positive finding resulting in a visit to a pediatrician and a second test) in preterm infants.
Objective:
To determine the efficiency of the neonatal screening program for CAH in Sweden over time.
Design, Setting, And Participants:
Longitudinal prospective population-based study in Sweden. We assessed neonatal screening for CAH from January 1, 1986, through December 31, 2011, when 2 737 932 infants (99.8%) underwent testing. The CYP21A2 genotype was investigated in 219 cases with true-positive findings (94.8%). We investigated the screening outcomes for 231 patients who had true-positive findings, 43 with late diagnosis, and 1497 infants with false-positive findings.
Main Outcomes And Measures:
Sensitivity of the screening for salt-wasting CAH. The most important secondary outcome measures were the positive predictive values and recall rates for full-term and preterm infants and sensitivity for milder forms of CAH.
Results:
A total of 143 patients with salt-wasting CAH were identified; none were missed. The sensitivity was lower for milder forms of the disorder (P = .04), including 79.7% for simple virilizing forms and 32.4% for nonclassic forms. The positive predictive value was higher in full-term (25.1%) than preterm (1.4%) infants and correlated with gestational age (r = 0.98; P < .001). The recall rate in full-term infants (0.03%) was lower than that in preterm infants (0.57%) (P < .001). An analysis of previously reported results from other screening programs revealed that the sensitivity of the screening was negatively correlated with the duration of follow-up (P = .03).
Conclusions And Relevance:
Screening for CAH was highly effective in detecting the salt-wasting form and thereby reducing mortality. Additional late-onset cases of CAH were detected in childhood and adolescence, reducing the sensitivity for milder forms. The positive predictive value was high despite a low recall rate in full-term infants. Further improvements are necessary to increase the effectiveness of screening among preterm infants.
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