ABSTRACT
Background: Congenital hypothyroidism is one of the most common causes of mental retardation in pediatric age group. Screening for congenital hypothyroidism is one of most cost effective tools to prevent mental retardation among the general population. Umblical cord TSH estimation remains an easily available option for screening of congenital hypothyroidism. Aims and objectives was to estimate correlation between TSH obtained from cord blood TSH and heel prick TSH at 3rd day of life using blood spot. To estimate the predictability to rule out congenital hypothyroidism using cord blood spot TSH and to determine whether cord blood TSH can be advocated to screen congenital hypothyroidism.Methods: Prospective study conducted in department of Neonatology, IOG, Egmore after obtaining consent from parents. The study was carried out in two phases. First phase, to establish correlation between cord blood spot TSH and heel prick TSH and to establish median cutoff point of TSH .Second phase, to establish cord blood spot TSH as screening method.Results: The birth weights ranged between 2.5 to 4.3 kg. TSH values ranged from 2.0-33.3mlU/L. The mean value was 16.45mlU/L. A cutoff value of 20mlU/L was used for recall testing of complete thyroid profile (T3, T4 and TSH). Thirty six infants were recalled for repeating complete thyroid profile.Conclusions: Congenital hypothyroidism (CH) is the one of the most common preventable causes of mental retardation which can be detected by measuring cord blood TSH .Cord blood TSH can be advocated in national public health program as a routine so that all babies can be tested before discharge thereby minimising interventions for the baby.
ABSTRACT
O Programa Nacional de Triagem Neonatal (PNTN) implantado no Brasil tem como objetivo, considerando cada fase de execução local, detectar doenças como fenilcetonúria, hipotereoidismo congênito, hemoglobinopatias e fibrose cística. O objetivo deste trabalho foi analisar, através de um estudo transversal e observacional, a prevalência das doenças detectadas pelo PNTN no município de Araraquara emitidas pela APAE de São Paulo no período compreendido entre abril e dezembro de 2009. Os resultados mostram que o município apresentou, no ano de 2009, prevalência de fenilcetonúria e hipotireoidismo congênito de 0,06% acima da média nacional, que é de 0,01% e 0,03%, respectivamente. Com relação às hemoglobinopatias, encontrou-se prevalência do traço para anemia falciforme de 2,15% abaixo da média nacional, que é de 2,6%. A prevalência do traço C no município foi de 0,57%, semelhante a valores nacionais disponíveis na literatura. FA BART´S confirmado apresentou valor de 0,13% abaixo da média de 0,38% da região do município de Araraquara. A realização do teste do pezinho e o aconselhamento aos cuidadores são fatores importantes para redução de morbidades relacionadas à evolução dessas doenças.
The National Neonatal Screening Program (NNSP) set up in all Brazil, aims, through planned phases of local implementation, to detect diseases such as phenylketonuria, congenital hypothyroidism, hemoglobinopathies and cystic fibrosis. The aim of this study was to assess, through a cross-sectional observational study, the prevalence of the diseases detected by the NNSP in the city of Araraquara, in records issued by the São Paulo APAE laboratory in the period between April and December 2009.The results show that Araraquara had a prevalence of phenylketonuria and congenital hypothyroidism 0.06% above the national averages of 0.01% and 0.03% respectively. With respect to hemoglobinopathies, the prevalence of sickle cell trait was 2.15% below the national average of 2.6%. The prevalence of Hb C in the city was 0.57%, similar to national values reported in the literature. Confirmed Hb Bart´s had a prevalence of 0.13% in Araraquara, below the average of 0.38% for the surrounding region. The neonatal screening by heel-prick test and counseling for caregivers are important factors in reducing morbidity related to the evolution of these diseases.