The NUPAD team makes telephone contact with the health care center (or hospital), in order to either get a new sample collected or to refer the child to medical consultation, according to the specific protocol for each disease and the degree of alteration of the result. Blood samples are processed and analyzed at NUPAD’s laboratory, and the results are delivered to the health care centers (or hospitals) as quickly as possible. There are approximately 20,000 births monthly in Minas Gerais, and nearly VX-770 mouse the same number of newborns are screened through the aforementioned public program. The current population coverage of the program is 98%. Newborn screening for CAH was implemented as part of
a research study to prepare the state for an expansion in its program, which is expected to include this disease in the routine panel. It was performed by measuring 17-hydroxyprogesterone (17-OHP) levels using the sample isolated from dried blood spot specimens for the routine screening by PTN-MG. The 17-OHP levels were measured using the Umelisa 17-OH Progesterona Neonatal (Havana, Cuba) assay with a reference value (RV) of 80 nmol/L (conversion factor: 1 nmol/L of blood = 0.73 ng/mL of serum) for normal weight (≥ 2,500 g) and full term infants (≥ 37 weeks of gestation). A flow diagram based on established protocols
in literature was proposed, and the cut-offs 80 nmol/L and 160 nmol/L were adopted for defining the procedures. (Fig. 1). Following the preliminary data analysis, a specific 17-OHP cut-off value was determined FDA-approved Drug Library molecular weight for preterm infants (< 37 weeks of gestation) and children with birth weights below 2,500 g, based on the 99th percentiles of the results analyzed. All samples with 17-OHP values below 160 nmol/L were considered to be normal. All children who met the criteria and needed a follow-up were referred to pediatric endocrinologists at the outpatient clinic of the University Hospital, where they were clinically evaluated. Confirmatory serum tests for 17-OHP, androstenedione, testosterone, sodium (Na+), and potassium (K+) were conducted for
all children at their first Abiraterone manufacturer visit to the endocrinologist. Serum 17-OHP was measured using radioimmunoassay (RV < 204 ng/dL). Androstenedione (RV < 1.6 ng/mL) and testosterone (RV = male term: 0.75-4.0 ng/mL; female term: 0.20-0.64 ng/mL; male preterm: 0.37-1.98 ng/mL; and female preterm: 0.05-0.22 ng/mL) were measured using chemiluminescence. Children who presented clinical evidence of salt loss (weight loss or insufficient weight gain and/or dehydration signs), and females with signs of virilization (Prader stages I-V) plus increased serum hormones (17-OHP, androstenedione, and testosterone), low Na+ levels (< 135 mmol/L), and high K+ levels (> 5.5 mmol/L) were assigned a CAH diagnosis. They were treated with steroids: 10 to 15 mg/m2 of hydrocortisone acetate and 0.1 to 0.2 mg of fludrocortisone, daily.