Resumo

DE GOUVEIA ROCHE, Yudexis Danielis; MARQUEZ HERRERA, Carmen Elizabeth  e  CARNIATO PEREZ, Luisa Angela. Early detection of Phenylketonuria and congenital Hypothyroidism with newborn screening. Arch Venez Puer Ped [online]. 2016, vol.79, n.1, pp.003-007. ISSN 0004-0649.

Congenital hypothyroidism and phenylketonuria are metabolic disorders which may have clinical consequences and cause severe mental retardation, and the appearance of physical and neurological sequelae that affect child development. One of the tools that strengthen early diagnosis is neonatal screening, The purpose of this research is to determine the incidence early cases of congenital hypothyroidism and phenylketonuria ( PKU) neonatal in Cojedes state during the period January 2008 - December 2014. The research was part of a pattern of non-experimental, retrospective and descriptive research, led to a population consisting of live births who were held in dried blood on filter paper quantitation of thyroid stimulating hormone (TSH) ELISA method and fluorescent probe for quantification of the concentration of phenylalanine (PHE). The data collection technique used was the rating scale. Results: Of 54,152 live births in this period metabolic screening was performed at 35,988 newborns which represent 66.46 % of the population subjected to it. 4 positive cases were recorded for TSH constituting 0.01 %, representing 50% males and 50 % females, with an incidence of 1: 2276 and no case for PKU. Recommendation: Provide information on the importance of Neonatal Metabolic Research or screening of these diseases to pregnant women.

Palavras-chave : Neonatal Metabolic Screening; TSH; PKU.