Our findings confirm the benefits of newborn screening for CAH and the importance of a second screening test, and suggest that programs for newborn CAH screening must consider complex issues in diagnosis and treatment. These results also confirm that CAH is a continuum of disorders, rather than a disorder with discrete subtypes. In addition, the difficulties in differentiating CAH subtypes in newborns, and thus deciding appropriate treatment, and the high incidence of NC CAH suggest that standard diagnostic criteria and treatment regimens for CAH may need modification. Where screening exists, physicians will encounter more cases of CAH than in the past.

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Since Nov 1, 1983, we have tested more than 1 million infants for sickling hemoglobinopathies. The laboratory procedures used for analysis of the filter paper blood spots include a combination of cellulose acetate and citrate agar electrophoresis. Isoelectric focusing offers an alternative screening procedure. Satisfactory interpretations of electrophoretic patterns are generally acceptable on specimens analyzed within five days of collection. Specimen age does not seem to be as critical a factor with isoelectric focusing. Consumable supply costs are slightly more with isoelectric focusing protocol (approximately $0.50 v $0.25), however, and the technical complexity and time involved are also somewhat higher. We have found the incidences to be as expected. Annual births in Texas number approximately 42,000 blacks, more than 90,000 Hispanics, and more than 175,000 whites. The newborn screening program is detecting approximately 100 cases of sickle cell anemia, 40 cases of SC disease, and 4,200 sickle hemoglobin carriers annually. Although the morbidity and mortality data demonstrating the effectiveness of this program will take some time to accumulate, support for its continuation from the physician community and the general public appears widespread. Follow-up of disease conditions is an integral part of the protocol, and the involvement and recommendations of an advisory committee, including qualified pediatric hematologists, have proven extremely beneficial. Both educational literature and treatment protocols have been addressed by the department and its advisers. Although the program still lacks a strong genetic counseling effort, and there are considerable communication and transportation problems associated with the state's geography, the Texas Department of Health remains dedicated to improving the public health of infants throughout the state with its quality newborn screening program.