Modification of infant hypothyroidism and phenylketonuria screening program using electronic tools

Congenital hypothyroidism and phenylketonuria (PKU) are the most common cause for preventable mental retardation in infants worldwide. Timely diagnosis and treatment of these disorders can have lasting effects on the mental development of newborns. However, there are several problems at different stages of screening programs that along with imposing heavy costs can reduce the precision of the screening, increasing the chance of undiagnosed cases which in turn can have damaging consequences for the society. Therefore, given these problems and the importance of information systems in facilitating the management and improving the quality of health care the aim of this study was to improve the screening process of hypothyroidism and PKU in infants with the help of electronic resources.

The current study is a qualitative, action research designed to improve the quality of screening, services, performance, implementation effectiveness, and management of hypothyroidism and PKU screening program in Isfahan province. To this end, web‑based software was designed. Programming was carried out using Delphi.net software and used SQL Server 2008 for database management.

Given the weaknesses, problems, and limitations of hypothyroidism and PKU screening program, and the importance of these diseases in a national scale, this study resulted in design of hypothyroidism and PKU screening software for infants in Isfahan province. The inputs and outputs of the software were designed in three levels including Health Care Centers in charge of the screening program, provincial reference lab, and health and treatment network of Isfahan province. Immediate registration of sample data at the time and location of sampling, providing the provincial reference Laboratory and Health Centers of different eparchies with the ability to instantly observe, monitor, and follow‑up on the samples at any moment, online verification of samples by reference lab, creating a daily schedule for reference lab, and receiving of the results from analysis equipment; and entering the results into the database without the need for user input are among the features of this software.

The implementation of hypothyroidism screening software led to an increase in the quality and efficiency of the screening program; minimized the risk of human error in the process and solved many of the previous limitations of the screening program which were the main goals for implementation of this software. The implementation of this software also resulted in improvement in precision and quality of services provided for these two diseases and better accuracy and precision for data inputs by providing the possibility of entering the sample data at the place and time of sampling which then resulted in the possibility of management based on precise data and also helped develop a comprehensive database and improved the satisfaction of service recipients.