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Evaluating the accuracy of Malformations Surveillance Program in detecting virilization due to congenital adrenal
Julie Travitz1, Marie Noel Westgate, Cecilia Larson
1Department of Newborn Medicine, Brigham and Women's Hospital, New England Newborn Screening Program, Jamaica Plain, Massachusetts, USA.
Insights
Newborn biochemical screening effectively detects congenital adrenal hyperplasia virilization in infants. Malformations surveillance and routine exams were less successful, especially in identifying affected males.
Area of Science:
- Pediatrics
- Endocrinology
- Medical Genetics
Background:
- Congenital adrenal hyperplasia (CAH) is a group of genetic disorders affecting the adrenal glands.
- The 21-hydroxylase form of CAH causes virilization in newborns, requiring early detection to prevent metabolic crises.
- Effective surveillance programs are crucial for identifying serious birth defects.
Purpose of the Study:
- To compare the effectiveness of three methods in detecting virilization associated with 21-hydroxylase CAH in newborns.
- To identify the most reliable screening method for this condition.
- To inform improvements in malformations surveillance programs.
Main Methods:
- Comparison of an 'active' malformations surveillance of medical records.
- Evaluation of routine medical care by examining physicians.
- Assessment of newborn biochemical screening of blood samples.
Main Results:
- Newborn biochemical screening correctly identified all affected males and females.
- Pediatricians recognized affected females but missed affected males.
- The Active Malformations Surveillance Program was the least effective, missing several cases, particularly in males.
Conclusions:
- Newborn biochemical screening is the most effective method for detecting virilization in 21-hydroxylase CAH.
- Limitations in physician awareness and consistent physical signs hinder early detection by other methods.
- Findings can guide the design and enhancement of future malformations surveillance programs.
Abstract:
Malformations surveillance programs of newborn infants have been developed as a method for identifying serious and relatively common birth defects. The virilization of newborn infants with the classic 21-hydroxylase form of congenital adrenal hyperplasia must be identified early if the associated metabolic crisis in the perinatal period is to be prevented. We compared the detection of virilization associated with 21-hydroxylase congenital adrenal hyperplasia in infants by three methods: an 'active' malformations surveillance of medical records at a large urban hospital; routine medical care by examining physicians; and newborn biochemical screening of blood samples. The experience at a large maternity center in Boston, since 1972, showed that pediatricians often recognized affected females (6/6), but not males (0/2); the state newborn screening program, begun in 1990, identified correctly all affected males and females. The Active Malformations Surveillance Program was the least effective screening method, identifying four of six affected females and neither of the affected males. The low rate of detecting affected females by the Surveillance Program was attributed to a failure to sensitize the research assistants to the importance of physicians' notations regarding the signs and symptoms of virilization. The failure of examining physicians, and thereby, the malformations surveillance program, to detect virilized newborn males was due to the lack of consistent associated physical features. These comparisons between these three methods of detection can be used to design and improve malformations surveillance programs.
