It is known that more female than male children are diagnosed in the absence of screening (4:1), which indicates that there are unrecognized deaths due to CAH in male children.15 and 16 CAH treatment onset was late in this pilot study, mainly due to the initial difficulties to implement a protocol for CAH in

the PTN-MG without previous experience with the management of this disease within the state program of newborn screening. According to the Working Group on Neonatal Screening of the European Society for Pediatric AG-014699 purchase Endocrinology, the results of newborn screening for CAH should ideally be available within ten days after birth.17 This timeline is important, because delays in beginning treatment raise concerns about the potential benefits of implementing screening programs for CAH. Delayed diagnoses may invalidate the primary goal of CAH

screening, i.e. to avoid salt-wasting crises and thereby reduce the morbidity and mortality of the disease. Data from the Netherlands published in 2001 showed that specimen collection is usually performed within two days of life, and all the children with CAH diagnosed via screening were able to begin treatment before the tenth day of life, thus preventing severe salt loss.18 However, during the pilot project at Minas Gerais, it was possible to identify children with the disease who otherwise could not be diagnosed earlier, even with an average age of seven days at screening. Reduced false-positive rates and improved PPVs might be obtained through both optimizing the 17-OHP cut-off points according to a higher number this website Florfenicol of birth weight categories or gestational age,

and implementing a second-tier test. These strategies are used in many countries19, 20, 21, 22 and 23 to offset the fact that serum 17-OHP levels may take several months to return to normal in false-positive cases. This time can represent significant psychological stress for the family. Because of the poor management of CAH in developing countries, the authors believe that implementing a program of newborn screening for CAH is an important public health policy with confirmed benefits, as herein reported. Newborn screening programs represent one of the great advances for the early care of treatable diseases in childhood.24 Based on the development of this pilot program, it can concluded that the implementation of a routine program of newborn screening for CAH would be beneficial. In addition, long term follow-up and monitoring of all children with positive screening results are crucial to ensure a correct diagnosis and to calculate a reliable incidence ratio. Furthermore, to avoid the occurrence of overtreatment, improved diagnostic methods and follow-up procedures should be introduced before newborn screening for CAH is implemented.