Assessing the Phenylketonuria Screening Program in Newborns, Iran 2015-2016.

Area of Science:

• Medical Genetics
• Public Health
• Neonatal Screening

Background:

• Phenylketonuria (PKU) is a critical autosomal recessive metabolic disorder.
• Untreated PKU leads to severe, irreversible neurological damage and cognitive impairment.
• Effective screening programs are vital for early detection and intervention in children.

Purpose of the Study:

• To assess the quality and effectiveness of the phenylketonuria screening program in Chaharmahal and Bakhtiari province.
• To analyze the incidence, coverage, and key performance indicators of the PKU screening program.
• To evaluate healthcare facilities, diagnosis/treatment timelines, and awareness levels related to PKU screening.

Main Methods:

• A descriptive-analytic study design was employed.
• Data collected from 2012 to 2015 using checklists for facilities and timelines.
• Knowledge questionnaires assessed parental and staff awareness regarding phenylketonuria screening.

Main Results:

• Cumulative PKU incidence was 1 in 6662 live births (2012-2015).
• Program coverage reached 100%, with on-time sampling increasing from 80% (2012) to 84.6% (2015).
• Sensitivity was 100%, specificity 99.9%, and all treatments initiated within 4 weeks; staff awareness was fair, but parental awareness was not impacted.

Conclusions:

• The phenylketonuria screening program in the province is of appropriate general quality.
• High sensitivity and specificity indicate effective detection and timely treatment initiation.
• Recommendations include enhancing staff and parental awareness and supervision for improved outcomes.