Phenylketonuria Incidence based on the Results of the Neonatal Screening Program and Evaluation of this Program-based Surveillance Data System in Sirjan City from 2012 to 2019

PKU is the most common hereditary metabolic disease. Considering the severe complications caused by the lack of timely diagnosis of this disease, it is important to carry out the newborn screening process properly.

This study aims to determine the incidence of phenylketonuria (PKU) based on the results of the neonatal screening program and evaluate the indicators of this program in Sirjan City from 2012 to 2019.

The present study was across-section descriptive, and all screening babies were examined from 2012 to 2019. Screening information was obtained from data recorded in the neonatal screening program and patient information from the national form of epidemiological investigation of genetic diseases in the Kerman Health Department. Excel software was used to draw charts. Descriptive statistics were used to describe the variables. Information was provided as a frequency table and chart.

The overall screening coverage was 95.3%. Among this, 93.2% of infants were screened during the 3 to 5 days of life. The incidence of PKU was found to be 1.33 in 10,000 live births. Around 0.44% of the samples were inappropriate, and the percentage of inappropriate samples was from the beginning of the program and monitored across each year. On the first visit to the PKU treatment center, 50% of infants were below 2 weeks. About 100% of patients identified in screening were the first child in the family, and around 83.3% of parents were consanguineous.

The incidence of PKU in Sirjan is in line with the national average. Implementation of the screening program showed a significant impact on the timely diagnosis and the onset of patients. It is necessary to increase household awareness about the consequences of consanguineous marriages, especially in areas with a high prevalence of PKU.