Quality evaluation of newborn screening programs

Abstract

Loeber G, Webster D, Aznarez A. Quality evaluation of newborn screening programs. Acta Paediatr 1999; 88 Suppl 432: 3-6. Stockholm. ISSN 0803-5326In the last four decades in many countries and regions all over the world newborn screening programs have been developed. Traditionally, most programs focus on phenylketonuria and congenital hypothyroidism. However, with development of new technologies, screening for a large variety of other disorders has become available. The decision-making process on what to screen or not to screen for is usually driven by personal interest of the professionals involved, by local legislation and access to funding, resulting in large differences among countries. In general, quality evaluation is only applied to the pure laboratory analytical phase. Less attention is given to the pre-analytical phase (e.g. timely sampling, maximum coverage) and the post-analytical phase (follow-up and treatment, evaluation of long-term effects, cost-effectiveness, etc.). In order to gain more insight into the current situation worldwide we developed a questionnaire which was sent to leading screening centers in more than 30 countries. As expected, the results show large differences in degree of organization, turnover times, completeness of coverage and follow-up. There appears to be no relationship between screening procedures and the degree of legislation or the system of funding. In presenting the more detailed results we hope to be of service to program organizers. & Epidemiology, follow-up, metabolic diseases, newborn, quality, screening JG Loeber, RIVM,

Expanding the comprehensive national neonatal screening programme in the United Arab Emirates from 1995 to 2011

“…An effective neonatal screening programme requires careful planning including education, administration, laboratory analysis, follow-up, management, evaluation and, most importantly, the commitment of all involved [6]. Our data indicated that the percentage uptake of neonatal screening in the UAE increased from 50% in 1998 to reach 95% in 2010, with a rapid increase in 2003, although to levels still below the international coverage standard (99%) [7].…”

Follow-up in newborn hearing screening – A systematic review

“…Multi-stage screening protocols incorporate tests such as Oto-Acoustic Emissions (OAE) and Auditory Brainstem Response (ABR). The quality and efficacy of the UNHS program rely heavily on overall coverage percentage, quality of testing and reporting, and timely referrals for diagnostic tests, interventions and follow-up [8]. Follow-up of infants who have failed hearing screening is essential in order to reap maximum benefits from the program.…”

The profile of newborn screening coverage in China

“…Although some, such as G6PD, CAH and Gal, are screened for at some laboratories in a few large cities, there remains a remarkable difference in newborn screening in China compared with some developed countries, where more than six diseases are normally included in newborn screening programmes. 9–12 From this survey, the number of neonates screened for PKU and CH was 4,969,479 in 2006, and 6,389,189 in 2007. These figures are higher than those reported by Zhan in 2009.…”