Neonatal screening program in Rajavithi Hospital, Thailand.

ABSTRACT

A pilot study was conducted in order to identify the cases and determine the incidence of congenital hypothyroidism, phenylketonuria (PKU) and glucose-6 phosphate dehydrogenase (G6PD) deficiency in the newborn infants born at Rajavithi Hospital. During May 1995 - July 1998, 32,407 out of 49,092 (66%) infants were screened for congenital hypothyroidism by measuring thyroid stimulating hormone (TSH) by radioimmunometric assay method. Seven cases of congenital hypothyroidism were identified (incidence of 1 4,629 live births). The recall rate was 0.66%. The screening for PKU was done on 17,421 out of 29,443 (59.14%) infants by measuring phenylalanine level by Guthrie method during June 1996 to July 1998. There was no PKU found. From January 1996 to July 1998. 24,714 newborn infants were screened for G6PD deficiency by fluorescent screening technique. The total incidence of 5.13% was found. The incidence in males and females was 9.13% and 1.66% respectively. This study confirms the benefit of the screening program in early detection and treatment of the disorders.