Screening Interventions for Inborn Error of Metabolism (IEM) in Selected Asian Countries

Abstract

The establishment of a viable program for newborn screening in the Asian region has suffered unimaginable set-back partly due to several factors such as economic, cultural, and geographical differences. This has mostly become exacerbated partly in developing and developed economies due to a lack of proper awareness. In many parts of the world, the screening of infants for congenital disorders is an important part of neonatal activities with the inherent advantage of minimizing the morbidity and mortality rates in newborns. The recent development of state-of-the-art procedures has therefore made it possible for the newborn screening of a wide range of strange disorders. This review succinctly presented the overview and importance of newborn screening, awareness, spectrometry diagnostic tools and the potential future collaboration among member countries in this region.

Overview

There are markable four generations of newborn screening advancement in the Asian continent. The first era of this development happened in the early 1960s where newborn screening was regarded as an advancement over the conventional public health institution, with pacific Asian countries like Japan, and China, at the forefront [71]. The second generation was in the 1980s in which the countries like China, Taiwan, Singapore, India, and Hong Kong showing a significant increase in newborn screening with congenital hypothyroidism as the prominent inborn error screened for [71]. Also, in the 1990s countries like Korea, Thailand, and the Philippines were at the developing stage and this period marked the third generation of newborn screening in the Asian continent. Moreover, the 4 th generation was in the 2000s which identified countries such as Indonesia, Mongolia, Myanmar, Sri Lanka and Pakistan at the developmental but insignificant stage of post-natal screening only for congenital hypothyroidism even with no clear policy and limited funding [72]. However, there is limited or no formal newborn screening program with little information available on newborn screening activities in Bhutan, Cambodia, Laos, Brunei, Burma, Lebanon, Nepal, North Korea, East Timor, Indonesia, Pakistan & Papua New Guinea [72]. Presently, some of the nations in this region are just starting screening initiatives for targeted metabolic as well as other congenital anomalies, especially the countries with depressed economies [71]. Maks et al [66] evaluated the current status of expanded newborn screening in Hong Kong China with a special emphasis on the few numbers of incidences and their expanded spectrum which could be used to develop a broad-based program for the local area. The result of their investigation revealed the cases of expanded newborn error of metabolism to be one out of 4122 births which accounts for an infinitesimal 0.00024% incidence from the number of children born. In Malaysia, NBS started in the 1980s with cord-blood testing for G6PD disorder [73]. The Malaysian Ministry of Health established countrywide, step-by-step congenital hypothyroidism (CH) clinical guidelines for all newborns born in public hospitals in 2003 [73]. With the development of auditory and interventional treatments for hearing-impaired infants from the early nineties, some few clinics in the early 2000s adopted healthcare facility newborn hearing testing. Nevertheless, extended NBS (which includes abnormalities of amino acid metabolism, fatty acid oxidation, and organic acid metabolism) is not obligatory and has not yet been implemented into the Malaysian public health system.

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