Evaluation of the Results of the Screening Program of Phenylketonuria in the South East of Iran during the Years 2014-2020

The aim of the study was to evaluate the results of the screening program for phenylketonuria in the South East of Iran during the years 2014-2020.

Screening and timely treatment of neonatal phenylketonuria can prevent the irreversible complications of the disease. Therefore, screening is essential during the early days post birth.

This cross-sectional (descriptive analytical) study was conducted by census sampling method in the south of Iran during the years 2012-2019. Of 110,073 babies born in 7 cities affiliated with Jiroft University of Medical Sciences, 105,778 (96.09%) babies were screened. Data analyses and statistical analyseswas completed using SPSS software version 24. Descriptive statistics was used to calculate the frequency and prevalence of the disease using the formula of the number of new cases of the disease divided by the population at risk each year.

The highest percentage of timely screening (87.82%) was related to Jiroft city. 221 babies initially tested positive and resampling was completed. After measuring the level of phenylalanine by the HPLC method, 12 babies were referred to the phenylketonuria treatment center as a positive confirmation of the diagnosis. They were treated with the opinion of a pediatrician as a definite positive for phenylketonuria. The incidence of phenylketonuria was 1.09 per 10,000 live births. The highest incidence was related to South Roudbar (1.81 per 10 thousand live births) and Jiroft (1.58 per 10 thousand live births) cities, respectively.

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.