Escola Nacional de Saúde Pública Sergio Arouca, Fundação Oswaldo Cruz, Rio de Janeiro, Brasil.
Cad Saude Publica. 2012 Sep;28(9):1623-31. doi: 10.1590/s0102-311x2012000900002.
In this study, the frequency of detected congenital hypothyroidism, phenylketonuria and haemoglobinopathies in the State of Rio de Janeiro's (Brazil) Newborn Screening Program (NBSP) was analyzed between the years of 2005 and 2007. There were two Newborn Screening Reference Centers (named NSRC A and B) with programmatic differences. In 2007, overall detection coverage reached 80.7%. The increase in the incidence of congenital hypothyroidism (1:1,030 in 2007) was attributed to the reduction of neonatal TSH value limits over time. The incidence discrepancy of phenylketonuria between NSRC A (1:28,427) and B (1:16,522) might be partially explained by the small number of cases. The incidence of sickle cell disease and its traits were uniformly high (1:1,288 and 1:21, respectively). This was coherent with the ethnic composition of the population. The differences in laboratory methods and critical values, in addition to other programmatic issues, may explain the variances in the results and limited analysis of the role of biological and environmental determinants in the occurrence of these diseases.
本研究分析了 2005 年至 2007 年期间巴西里约热内卢州新生儿筛查计划（NBSP）中检测到的先天性甲状腺功能减退症、苯丙酮尿症和血红蛋白病的频率。有两个新生儿筛查参考中心（分别命名为 NSRC A 和 B），具有不同的方案。2007 年，总检测覆盖率达到 80.7%。先天性甲状腺功能减退症的发病率（2007 年为 1:1,030）的增加归因于新生儿 TSH 值限值随时间的降低。NSRC A（1:28,427）和 B（1:16,522）之间苯丙酮尿症发病率的差异可能部分解释为病例数量较少。镰状细胞病及其特征的发病率均较高（1:1,288 和 1:21）。这与人口的种族构成一致。实验室方法和临界值的差异，以及其他方案问题，可能解释了结果的差异以及对这些疾病发生的生物和环境决定因素的有限分析。
