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

Abstract

Phenylketonuria is one of the most important congenital disorders and an autosomal recessive metabolic disease that can cause irreversible brain damages, mental retardation, and cognitive disorders if left untreated. In order to reduce the genetic abnormalities caused by this metabolic disease, screening programs are implemented. The quality of the program must be properly assessed to achieve the objectives of this program if promoting children's health is of concern. The descriptive-analytic method is adopted here to assess the phenylketonuria screening program in practice in Chaharmahal and Bakhtiari province since 2012 and analyze the incidence and program coverage. The quality of the screening program is assessed through analyzing the time of diagnosis, beginning of the treatment and the healthcare centers’ facilities with checklists. The parental and the staff awareness is assessed through knowledge measuring questionnaires. Cumulative incidence of phenylketonuria in Chaharmahal and Bakhtiari province from 2012 to 2015, is 1 in every 6662 live births. The program coverage across the region is 100%. The recorded on-time sampling index before 5 days of age, indicate 84.6 % in 2015 from 80% in 2012. The treatment begun before the newborn 4 weeks was over in all cases. Program sensitivity was 100 %, and its specificity was 99.9%. Staff awareness is fair with no impact on parental awareness. General quality of the screening program is appropriate, and as to sensitivity and on-time curing specificity, higher staff and parental awareness supervision are recommended as well.

Keywords

• Assessment
• Screening
• Phenylketonuria disease
• Phenylalanine