Neonatal Phenylketonuria Screening Indices in Kerman district during 2013-2017

Screening and timely treatment of neonatal phenylketonuria can prevent the irreversible complications of the disease. Therefore, the screening is essential during the early days of birth. The aim of the current study was to evaluate the indices of the phenylketonuria screening in Kerman district during 2013-2017.

This descriptive cross-sectional study was carried out on 92168 newborns referred to the reference sampling center in Kerman district from March 2013 to March 2018 and selected through census sampling. Data included the number of screened newborns, the time of the first sampling, the time of announcement of the suspected results, the level of phenylalanine, the number of re-screening by cause and the frequency of confirmed phenylketonuria. Mean, standard deviation, and frequency (percent) were calculated using Excel 2013 software.

The frequency of timely screening in Iranian and non-Iranian infants was 84.78 and 65.69%, respectively. Most newborns (99.75%) had normal levels of phenylalanine. The incidence of neonatal phenylketonuria in the study period was 0.16 per 1,000 live births.

The incidence of neonatal phenylketonuria in Kerman was approximately the same as the overall incidence in the country and the frequency of timely screening increased during the study period. Since evaluating any health-related program requires a rigorous data collection system, more attention must be taken to record the data needed to evaluate the program.