Successful Implementation of Expanded Newborn Screening in the Philippines Using Tandem Mass Spectrometry.

Newborn bloodspot screening (NBS) began as a research project in the Philippines in 1996 and was mandated by law in 2004. The program initially included screening for five conditions, with a sixth added in 2012. As screening technology and medical knowledge have advanced, NBS programs in countries with developed economies have also expanded, not only in the number of newborns screened but also in the number of conditions included in the screening. Various approaches have been taken regarding selection of conditions to be screened. With limited resources, low- and middle-income countries face significant challenges in selecting conditions for screening and in implementing sustainable screening programs. Building on expansion experiences in the U.S. and data from California on Filipinos born and screened there, the Philippine NBS program has recently completed its expansion to include 29 screening conditions. This report focuses on those conditions detectable through tandem mass spectrometry. Expanded screening was implemented in a stepwise fashion across the seven newborn screening laboratories in the Philippines. A university-based biochemical genetics laboratory provides confirmatory testing. Follow-up care for confirmed cases is monitored and provided through the NBS continuity clinics across the archipelago. Pre-COVID-19 pandemic, the coverage was 91.6% but dropped to 80.4% by the end of 2020 due to closure of borders between cities, provinces, and islands.

Successful Implementation of Newborn Screening for Hemoglobin Disorders in the Philippines.

The Philippine newborn bloodspot screening (NBS) program began in 1996 with 24 hospitals and was formalized by legislation in 2004. The NBS panel was recently expanded to include a number of additional hereditary congenital conditions. Expertise and experiences from other NBS programs already screening for hemoglobinopathies were essential to its successful integration into the ongoing dried bloodspot NBS program in the Philippines. Building on clinical experiences and population data from Filipinos born in California, USA, hemoglobinopathies (including thalassemias) were selected for inclusion in the expanded screening panel. Hemoglobinopathy NBS, using high performance liquid chromatography, was implemented in a stepwise manner into the seven regional NBS screening laboratories. A central university laboratory provides confirmatory testing using both capillary electrophoresis and molecular methodologies. NBS results indicating carriers are followed up with educational fact sheets, while results of presumptive disease are referred for confirmatory testing and follow-up with a hematologist. Long-term care is provided through newborn screening continuity clinics across the country. Hemoglobinopathy NBS is now included in the national insurance package and screening uptake continues to increase nationally, exceeding 90% of all newborns in 7400+ hospitals and birthing centers nationwide prior to the COVID-19 pandemic.

Philippine Performance Evaluation and Assessment Scheme (PPEAS): Experiences in Newborn Screening System Quality Improvement.

Newborn Bloodspot Screening (NBS) has existed for over 60 years, having been initiated by Guthrie in the U.S. In the Philippines, NBS was introduced in 1996 and later was supported by legislation. The NBS program now includes 29 conditions, covering 91.6% of the newborn population in 2019. Program growth and expansion necessitated development of a formal performance evaluation and assessment scheme (PEAS) for monitoring performance and for continuously improving quality. This study's objective was to present the development, implementation, and results to date of the Philippine Performance PEAS (PPEAS). Using the comprehensive listing of laboratory and non-laboratory elements in the model PEAS system in the U.S., PPEAS tools were developed for critical Philippine NBS system components: regional Department of Health (national health agency, Philippines) (DOH) offices (CHDs), NBS laboratories (NSCs), NBS specimen submitters (NSFs), and long-term case management centers (NBSCCs). Data generated from the various PPEAS have been periodically reviewed and analyzed for NBS system impact. PPEAS were developed to facilitate quality improvement at various levels of the Philippine NBS system. PPEAS identified successes, gaps, and challenges to be addressed by NSCs, NSFs, CHDs, and NBSCCs with the assistance of the Newborn Screening Reference Center and the Department of Health.

Detection of maple syrup urine disease on newborn screening second tier testing for phenylketonuria

Newborn screening for phenylketonuria (PKU) in the Philippines uses a bacterial inhibition assay to detect elevations in phenylalanine (PHE). The BIA sensitivity is affected by substances such as antimicrobials. Semiquantitative second-tier screening with thin layer chromatography (TLC) verifies inconclusive PKU screens. Maple syrup urine disease (MSUD) is a prevalent inborn error of metabolism in the Philippines that is currently not part of the Philippine newborn screening program. We report on the incidental detection of MSUD by second-tier TLC PKU screening in order to begin to establish the evidence necessary for its inclusion in the Philippine Newborn Screening Program. We reviewed the PKU newborn screening database from September 1, 1996 to June 12, 2008 to document the number of cases of elevated LEU detected incidental to confirming PHE elevations by second-tier TLC. Elevated LEU findings were studied further to document the number of MSUD cases. From September 1, 1996 to June 12, 2008, 966,096 babies were screened for PKU and 28,248 (2.9%) required second-tier testing. Of these, 403 had elevated PHE and 9 were confirmed to have either classic PKU or hyperphenylalaninemia. Fifty-three of 28,248 babies had normal PHE concentrations but elevated LEU concentrations. These babies were recalled and a second dried blood spot was requested. Of these, 15 had elevated LEU and were subsequently confirmed to have MSUD. Two babies had concurrent elevations of PHE and LEU, but both were deceased at the time of recall. Confirmation of 15 MSUD cases was almost twice as high as the number of PKU/HPA confirmed cases. Since MSUD patients were detected incidental to PKU screening and there was no initial MSUD screening, the incidence of MSUD is almost certainly much greater. The number of MSUD cases incidentally detected confirms that MSUD exists at a significantly higher prevalence in the Philippine newborn population than PKU, and its inclusion in the newborn screening panel should be considered as soon as feasible.