Neonatal screening program in Rajavithi Hospital, Thailand

Area of Science:

• Neonatal screening
• Public health
• Pediatric genetics

Background:

• Congenital hypothyroidism, phenylketonuria (PKU), and glucose-6 phosphate dehydrogenase (G6PD) deficiency are significant newborn health concerns.
• Early detection and intervention are crucial for preventing long-term complications associated with these disorders.
• A pilot screening program was initiated at Rajavithi Hospital to assess the incidence of these conditions.

Purpose of the Study:

• To determine the incidence of congenital hypothyroidism, PKU, and G6PD deficiency in newborns at Rajavithi Hospital.
• To evaluate the effectiveness of a newborn screening program in a hospital setting.
• To provide data for public health strategies regarding newborn health surveillance.

Main Methods:

• Congenital hypothyroidism screening involved measuring thyroid stimulating hormone (TSH) via radioimmunometric assay in 32,407 infants.
• Phenylketonuria (PKU) screening was performed on 17,421 infants by measuring phenylalanine levels using the Guthrie method.
• Glucose-6 phosphate dehydrogenase (G6PD) deficiency screening utilized a fluorescent screening technique for 24,714 newborns.

Main Results:

• Seven cases of congenital hypothyroidism were identified, with an incidence of 1:4,629 live births.
• No cases of phenylketonuria (PKU) were detected during the study period.
• The overall incidence of G6PD deficiency was 5.13%, with higher rates in males (9.13%) than females (1.66%).

Conclusions:

• The screening program demonstrated success in the early detection of congenital hypothyroidism and G6PD deficiency.
• The findings underscore the value of implementing comprehensive newborn screening protocols.
• Continued surveillance and early treatment are essential for managing these inherited metabolic and endocrine disorders in newborns.