Screening for Congenital Metabolic Disorders in the Newborn Infant: Congenital Deficiency of Thyroid Hormone and Hyperphenylalaninemia

The Committee on Genetics of the American Academy of Pediatrics was formed in 1976. The initial reports from the Committee are published in this supplement to Pediatrics: one on guidelines for screening the newborn infant for hyperphenylalaninemia (including phenylketonuria [PKU]) and the other on screening for congenital hypothyroidism. The first statement describes guidelines for screening for thyroid hormone deficiency in newborn infants; it concerns a traditional problem in pediatrics, the prevention of cretinism. A statement on "T4 screening" has already been issued by the American Thyroid Association.1 Why is there need for another (and longer) statement from the Academy? The Task Force on Genetic Screening recommended a special review of T4 screening, and that recommendation has been acted on quickly in the hope that most of the mistakes made in PKU screening will not be repeated in T4 screening. The American Thyroid Association statement adequately describes the status of testing for T4 deficiency; it does not cover other essential components of an effective screening program, namely, provision for serving patient retrieval, diagnosis, and treatment. The Committee urges pediatricians and endocrinologists who elect to push ahead with T4 testing to pause and examine the many issues of mass newborn infant screening before they act too hastily, perhaps to the detriment of their patients and newborn infant screening programs. Dr. Jean Dussault served as consultant to the Committee when it examined T4 screening; his personal experience extends to ¼ million screened subjects and emanates from a model program which has largely avoided many pitfalls of newborn infant screening.