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Padilla et al. Rare Dis Orphan Drugs J 2023;2:27 https://dx.doi.org/10.20517/rdodj.2023.38 Page 5 of 13

Table 1. Conditions included in the Philippine newborn screening program as of 2023
Fatty acid
Endocrine Organic Urea cycle Hemoglobin
Amino acid disorders oxidation Others
disorders disorders acidurias defects disorders
Homocystinuria (HCY) Congenital Medium chain- Propionic Argininosuccinic Detectable Biotinidase
adrenal acyl-CoA acidemia (PA) aciduria (ASA) hemoglobinopathies deficiency
hyperplasia dehydrogenase and thalassemias (BIO)
(CAH) deficiency (HGB)
(MCAD)
Methionine adenosine Congenital Very long Chain- Methylmalonic Citrullinemia Cystic fibrosis
Transferase deficiency Hypothyroidism acyl- CoA academia (CIT) (CF)
(MAT) (CH) Dehydrogenase (MMA)
[Hypermethioninemia] deficiency
(VLCAD)
Maple syrup urine disease Long chain Isovaleric Galactosemia
(MSUD) hydroxy-acyl- acidemia (IVA) (GAL)
COA
dehydrogenase
deficiency
(LCHAD)
Phenylketonuria (PKU) Trifunctional 3- Glucose-6-
[Hyperphenylalaninemia, protein deficiency methylcrotonyl phosphate
6-pyruvoyl- (TFP) carboxylase dehydrogenase
tetrahydropterin synthase deficiency deficiency
deficiency] (3MCC) (G6PDD)
Tyrosinemia (TYR) Carnitine Beta-
[Tyrosinemia type I, II, III] palmitoyl Ketothiolase
Transferase deficiency (BKT)
deficiency (CPT1)
Carnitine Glutaric aciduria
palmitoyl type (GA1)
Transferase
deficiency 2
(CPT2)
Carnitine uptake Multiple
defect (CUD) carboxylase
deficiency
(MCD)
Glutaric aciduria
type 2 (GA2)

peaked at 93.5% before the COVID-19 pandemic. Coverage dipped to 88.1% during the pandemic and is
now (2023) returning to its pre-pandemic coverage.

The archipelagic nature of the Philippines poses the additional challenge of implementation across the
7200+ NSFs. This challenge has been met by the appointment of a NBS coordinator for NSF. This
coordinator is responsible for ensuring that every baby born in the NSF undergoes NBS. Responsibilities
also include educating healthcare workers and the family, collecting samples, and arranging for the courier
service to pick-up and transport specimens to the designated NSC. The NSC performs the screening tests,
releases the screening results, completes short-term follow-up activities, and then refers confirmed cases to a
Newborn Screening Continuity Clinic (NBSCC). In the short-term follow-up process, the NBS coordinator
at the NSF can be contacted to facilitate additional testing for screen-positive newborns, aiding in the
diagnostic process.

The NBSCCs and Centers for Human Genetic Services (CHGSs) were created to assist in providing patient
care for diagnosed cases. The NBSCCs were first established in 2014 to strengthen the referral network and
[23]
to ensure the appropriate treatment/management of confirmed cases . The establishment of the NBSCCs
was in response to the lack of medical facilities with capabilities for long-term patient care of patients