Espada Sáenz-Torre Mercedes, Peiró Callizo Enrique, Eguileor Gurtubai Iñaki
Experta en cribado neonatal. Experta asesora de la Ponencia de cribado poblacional de la Dirección General de Salud Pública del Ministerio de Sanidad. Miembro del Consejo Asesor de Cribado Neonatal de Enfermedades Congénitas del Departamento de Salud del Gobierno Vasco. España.
Jefe del Servicio de Coordinación de Programas de Salud Pública y de Seguridad del Paciente. Osakidetza-Servicio Vasco de Salud. Miembro del Consejo Asesor de Cribado Neonatal de Enfermedades Congénitas del Departamento de Salud del Gobierno Vasco. España.
Rev Esp Salud Publica. 2020 Dec 16;94:e202012175.
Neonatal Screening Programs (PCN) have widely demonstrated their benefits since Dr. Guthrie published his developments on Phenylketonuria (PKU) in 1961. This paper describes how a simple and effective organization, which incorporates all the fundamental actors under the responsibility of the Public Health Directorate (DSP), has managed to ensure that the PCN of the Basque Country meets all the objectives required for a population screening. The acceptance by Basque society of the PCN allowed it to exceed 95% coverage in its second year of operation. Likewise, the limited negative social impact of PCN is evidenced by its low number of false positives and incorrect samples. Excellent response times allow every newborn with a positive result to have an early diagnosis and optimal initiation of treatment. There are two relevant experiences that support the importance of the effective exercise of the responsibility of the DSP. Congenital adrenal hyperplasia (CAH) was incorporated into the PCN in 1991 meeting all technical and clinical criteria. At the request of the experts, the DSP ordered in 1993 to cease this activity showing that it did not provide the expected benefits. The problems of organically integrating the PCN into the healthcare system were also experienced. The need to compete for resources put public health activities, including the PCN, at risk and led to their return to direct dependence on the DSP. The availability of this structure, in addition to facilitating the incorporation of other screenings, allows facing the future challenges.
自1961年古思里博士发表其关于苯丙酮尿症（PKU）的研究进展以来，新生儿筛查项目（PCN）已广泛证明了其益处。本文描述了一个简单而有效的组织，该组织将所有基本行为主体纳入公共卫生总局（DSP）的职责范围内，如何设法确保巴斯克地区的PCN实现了人群筛查所需的所有目标。巴斯克社会对PCN的接受使得该项目在运营的第二年覆盖率超过了95%。同样，PCN的假阳性和错误样本数量较少，证明了其有限的负面社会影响。出色的响应时间使得每个检测结果呈阳性的新生儿都能得到早期诊断和最佳的治疗启动。有两个相关经验支持了DSP有效履行职责的重要性。先天性肾上腺皮质增生症（CAH）于1991年被纳入PCN，符合所有技术和临床标准。应专家要求，DSP在1993年下令停止这项活动，表明其未带来预期益处。还经历了将PCN有机整合到医疗保健系统中的问题。争夺资源的必要性使包括PCN在内的公共卫生活动面临风险，并导致它们重新直接依赖于DSP。这种结构的可用性，除了便于纳入其他筛查项目外，还能应对未来的挑战。
