The call from the newborn screening laboratory: Frustration in the afternoon

Newborn screening programs in the United States are evolving in concert with technologic advances in analytic chemistry and medicine. Many more disorders are currently identifiable on dried filter paper blood spots, without fundamentally altering the basic principles first put forward in the 1960s, when newborn screening for PKU and congenital hypothyroidism was initiated. Some disorders have been added without knowing if there is a true benefit to early diagnosis and treatment. Some disorders currently being detected merit little or no follow-up in the future, as is clearly the case for mild persistent hyperphenylalaninemia and likely for certain of the fatty acid disorders and organic acidemias. Future studies will address these questions. Recent advances in molecular genetics will make possible the diagnosis of many disorders by DNA mutation analysis, issues of opportunity and concern for newborn screening programs in the future. With additional newborn screens comes an increased demand for repeat specimens and the increased involvement of the pediatrician with the newborn screening process. It is the pediatrician with whom the family has a relationship and who cares for the neonate in question. It is the pediatrician who explains to the family the need for repeat specimens and the possibility that the disorder exists. Because each state defines its own screening procedures, pediatricians must be informed as to the tests performed in their particular state. False-positive and false-negative results exist for virtually all of the tests currently used; therefore, one must not assume that the initial call from the laboratory makes the diagnosis a certainty or that a normal screening excludes the possibility of the disorder being present. Consultant subspecialists and comprehensive follow-up programs are available to advise pediatricians and provide high-quality care. The 4:30pm Friday call from the newborn screening laboratory need not provoke frustration. Help is at hand!