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

Abstract

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.

Capillary-in-Capillary Electrospray Ionization (CC-ESI) Source Enabling Convenient Sampling and Quantitative Analysis for Point-of-Care Testing

“…With ultrahigh sensitivity, specificity, and analysis speed, mass spectrometry (MS) has been becoming an exciting analytical technology for increasingly more clinical applications, including identification of microbes, − newborn screening (NBS), and quantification of therapeutic drugs. , Nowadays, nearly all clinical MS analyses are performed using laboratory-scale mass spectrometers typically coupled with a gas chromatograph (GC) or liquid chromatograph (LC), which is always labor-intensive and time-consuming. As a result, these MS techniques are limited to only in-lab applications and cannot meet the increasing demands of in situ clinical analysis, especially point-of-care testing (POCT).…”

Newborn Screening Long-Term Follow-Up Clinics (Continuity Clinics) in the Philippines during the COVID-19 Pandemic: Continuing Quality Patient Care

“…A total of 6519 endorsed patients were under the supervision of the NBSCCs by the end of 2021. An increase in endorsements of 146% occurred between 2019 and 2020 corresponding to the 2019 expansion of NBS from 6 to 29 conditions [ 16 , 17 ]. The preponderance of the additional endorsements was from hemoglobinopathy and thalassemia cases.…”

Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France

“…First Asian studies and experience on PCD NBS started in late 2000s in China (province-based program), Taiwan, South Korea, and Japan. More recently, Thailand and Philippines included PCD to the ENBS program as well [ 41 , 55 , 56 ]. To our knowledge, India still struggles to initiate a nationwide NBS program, and other Asian Pacific or Central Asia countries have not included PCD to their program to date [ 57 ].…”