Portuguese Newborn Screening Program: 36 years at the service of public health

Lopes, Lurdes; Sousa, Carmen; Fonseca, Helena; Carvalho, Ivone; Marcão, Ana; Rocha, Hugo; Vilarinho, Laura

http://hdl.handle.net/10400.18/5490

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Abstract(s)

Newborn screening programs have a key role in national public heath strategies, and have as main goal the detection of potentially fatal or disabling conditions in newborns, providing a window of opportunity for treatment, often before the infant displays any signs or symptoms of a disease or condition. Early detection and treatment can have a positive impact on the severity of the condition in the newborn. Portuguese Newborn Screening Program (PNSP) was established in late 70’s with the screening for phenylketonuria and congenital hypothyroidism, being available for all newborns in our Country and is performed in a single laboratory, which processes over 400 samples per day. Since the beginning, PNSP development is guided in respect to Wilson and Jungner criteria (WHO recommendations) with the purpose of maximizing the benefits/costs ratio. Throughout the last 35 years several pilot studies were undertaken, that in some cases resulted in the expansion of the number of screened disorders and others that don’t. Nowadays a total of 25 disorders are screened as part of PNSP (congenital hypothyroidism and a group of 24 metabolic disorders) being a pilot study for the newborn screening of cystic fibrosis in its final stage, with extremely promising results. Since its beginning, more that 3.5 million Portuguese newborns were screened (from 1993 the coverage rate is over 99%) and a total of 1.885 individuals were identified as being affected by one of the screened conditions. Birth prevalence’s are 1: 2.968 for congenital hypothyroidism; and 1: 2.283 for the group of metabolic disorders. Following the continuous improvement strategy implemented in the PNSP, future developments will depend on a permanent evaluation of new technical possibilities that could allow the detection of more treatable disorders as well as of the progresses in therapy effectiveness that may justify the screening of others. The positive impact of the PNSP in the newborn population and its continuous search for improvement makes it a key and leading hedge strategy in public health policies.