Storage and secondary use of bloodspots collected for newborn screening raises controversies because of the particularly sensitive nature of the information that can be derived from them and the lack of national standards and consistent provincial policies that can serve to guide storage facilities. This report, derived through a review of Canadian and provincial policy statements, a survey of ...

A Saudi newborn screening program is important to the half million Saudi children born each year in the Kingdom of Saudi Arabia. It is a coordinated and comprehensive system consisting of education, screening, diagnosis, treatment and management, follow-up, and program evaluation. The Saudi newborn population should benefit from this program and affected infants will be diagnosed early, and man...

Congenital hypothyroidism (CH) is the most common preventable cause of mental retardation in children. Diagnosis is difficult at birth without neonatal screening. Neonatal thyroid screening was established in Prilep, Republic of Macedonia as an integral part of the nationwide screening program. To estimate the prevalence of CH in this region, neonatal thyroid screening was performed on 9757 new...

High quality perinatal-neonatal care can prevent severe Retinopathy of Prematurity (ROP) in most cases. Preterm infants who do develop retinopathy can also have good visual outcomes if screening and treatment are done timely. National Neonatology Forum published clinical practice guidelines for timely screening and treatment of ROP in neonatal care units in the country in 2010. It is also liste...

Neonatal screening for congenital adrenal hyperplasia: experience and results in Argentina. J Pediatr Endocrinol Metab 2008;21:73–8. 19. Cordova RA, Vignola G. Screening and diagnosis of congenital adrenal hyperplasia in Basilicata (Italy). Southeast Asian J Trop Med Pub Health 1999;30: 103–6. 20. Valentino R, Tommaselli AP, Rossi R, et al. A pilot study for neonatal screening of congenital adr...

Despite marked improvements in developmental outcome with newborn screening and early levothyroxine replacement most follow up studies of congenital hypothyroidism (CH) show a persistent mild deficit in total IQ. It has been considered that these deficits in neurocognitive function occur in utero and thus even early therapy cannot completely normalise development. Alternatively the deficits cou...

Newborn screening (NBS) in the United States (US) has existed since the early 1960s and is required in all 51 state jurisdictions. It is generally recognised that NBS provides a significant public health benefit by preventing or markedly decreasing the adverse medical consequences of conditions included in the screening panel. There is currently no US national NBS policy, so instead there are 5...

The congenital disorders of immune competence are known as primary immunodeficiencies (PID) and are mainly characterized by a pathological susceptibility to infection. These infections are mostly of time repetitive and drug resistant in nature. The number of infected infants has reached over 200 and is on the increase. Additionally, clinical severity of the disease has been confirmed to be exte...

There is broad recognition of the need for population-based research to assess the safety and efficacy of newborn screening (NBS) for conditions that are not on current panels. However, prospective population-based research poses significant ethical, regulatory, and logistical challenges. In the context of NBS, there have been a variety of approaches that address parental decision-making in pil...

BACKGROUND Growing technological capacity and parent and professional advocacy highlight the need to understand public expectations of newborn population screening. METHODS We administered a bilingual (French, English) Internet survey to a demographically proportional sample of Canadians in 2013 to assess preferences for the types of diseases to be screened for in newborns by using a discrete...