title: Evaluating the accuracy of Malformations Surveillance Program in detecting virilization due to congenital adrenal hyperplasia.
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.
authors.affiliation: Department of Newborn Medicine, Brigham and Women's Hospital, New England Newborn Screening Program, Jamaica Plain, Massachusetts, USA.
authors.forename: Julie
authors.initials: J
authors.lastname: Travitz
authors.forename: Marie Noel
authors.initials: MN
authors.lastname: Westgate
authors.forename: Cecilia
authors.initials: C
authors.lastname: Larson
authors.forename: Lewis B
authors.initials: LB
authors.lastname: Holmes
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000150:complications* / Q000175:diagnosis*; D005260:Female; D006786:Hospitals, Urban; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008404:Massachusetts; D009313:National Health Programs; D015997:Neonatal Screening / Q000379:methods* / Q000639:trends; D013221:State Health Plans; D013997:Time Factors; D014481:United States; D014770:Virilism / Q000175:diagnosis* / Q000209:etiology*