Magalhães Patrícia Künzle Ribeiro, Turcato Marlene de Fátima, Angulo Ivan de Lucena, Maciel Léa Maria Zanini
Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, Brazil.
Cad Saude Publica. 2009 Feb;25(2):445-54. doi: 10.1590/s0102-311x2009000200023.
The Neonatal Screening Program at the University Hospital of the Ribeirão Preto School of Medicine, São Paulo University, Brazil, was introduced in 1994. As of December 2005, congenital hypothyroidism had been diagnosed in 76 infants, phenylketonuria in 10, and hemoglobinopathies in 25, representing incidence rates of 1:2,595, 1:19,409, and 1:4,120, respectively. A total of 2,747 newborns had the sickle cell trait, i.e., were heterozygous for the sickle mutation (1:37.5 live births). The program's mean coverage during this period was 94.5%. There was major improvement in the parameters for evaluating the program's quality, although they were still far from ideal. Public-awareness campaigns on the importance of neonatal screening are needed to increase the program's coverage. Setting postnatal day 3 as the standard Day for the Heel Stick Test would help ensure treatment at earlier ages, thus improving prognosis for affected infants.
巴西圣保罗大学里贝朗普雷图医学院大学医院的新生儿筛查项目于1994年启动。截至2005年12月，已诊断出76例先天性甲状腺功能减退症患儿、10例苯丙酮尿症患儿和25例血红蛋白病患儿，发病率分别为1:2,595、1:19,409和1:4,120。共有2,747名新生儿具有镰状细胞性状，即镰状突变杂合子（活产儿中占1:37.5）。在此期间该项目的平均覆盖率为94.5%。评估该项目质量的各项参数有了显著改善，尽管仍远未达到理想状态。需要开展关于新生儿筛查重要性的公众宣传活动，以提高该项目的覆盖率。将出生后第3天设定为足跟血检测的标准日期，将有助于确保在更早的年龄进行治疗，从而改善患病婴儿的预后。
