Lessons of screening two million newborns for congenital adrenal hyperplasia: 10-year experience of the Minas Gerais Public Health Program

Abstract

Objective

This is a 10-year period, descriptive and retrospective evaluation of a Brazilian State NBS-CAH public program, bringing light to the prior discussion concerning its implementation, by sharing the screening-240,000 babies annually practices.

Methods

The Minas Gerais (MG) NBS program has been coordinated by NUPAD, a neonatal screening, monitoring care, and genetics center at the Federal University of Minas Gerais (UFMG), intermediating all necessary actions, under the management of the State Health Administration, and following the Brazilian universal program. The dataset was used to calculate sensitivity, specificity, positive predictive value (PPV), incidence, number of carriers, and false-positive rates.

Results

About 2,094,588 newborns were screened, and the incidence was 1:14,647; PPV was 10.5%. Most samples were collected on the fifth day after birth (interquartile range 4–6 days); 1352 babies were referred for clinical evaluation; 1210 were false positives (0.06%), and 142 presented the classic form; 22% of newborns were hospitalized due to salt-loss symptoms before or at the first visit.

Conclusions

The MG NBS-CAH success as a public program comes from the Brazilian unified public health system, with integrated care, and from the newborn screening center offering timely referred screened positive cases and its outstanding state coverage. Appropriate cutoffs and close monitoring of hospitalized newborns have been pivotal for reducing the high false-positive rates.