ABSTRACT
Abstract
Objective:
To analyze the performance of the
cystic fibrosis (CF)
newborn screening (NBS) program over its first five years in a Brazilian northeastern
state.
Methods:
A
population-based study using a
screening algorithm based on immunoreactive
trypsinogen (IRT)/IRT. Data were retrieved from the
state referral screening center
registry. The program performance was evaluated using descriptive
indicators such as the results of an active search, coverage,
newborn's age at the
time of
blood sampling, the
time between sample collection and its arrival at the
laboratory, and the
child's age at
diagnosis of
disease.
Results:
The public CF
screening program covered 82.6% of the 1,017,576
births that occurred, with an accumulated five-year
incidence of 120,767
live births. The median (25th-75th) age at
diagnosis was 3.5 (2.3-7.3) months. The sampling before 7 days of
life for the first IRT (IRT1) increased between 2013 and 2017 from 42.2 to 48.3%. Around 5% of IRT1 samples and 30% of the second samples were collected after 30 days of
life. In the first and second stages of
screening, 23.6% and 19.9% of the
infants, respectively, were
lost to follow-up. In both stages of
screening, the samples were retained at the
health units for a median (25th-75th) of 9.0 (7.0-13.0) days.
Conclusions:
The coverage by the CF-NBS program was satisfactory as compared to other Brazilian
state rates and the percentage of IRT1 samples collected within the first week of
life increased progressively. However,
time of samples retention at the
health units, inappropriate sampling, inherent methodological problems, and loss of follow-up need to improve.
