Expanded Newborn Screening

Most metabolic disorders are due to a defect in an enzyme or transport protein, which results in a block in a metabolic pathway. Accumulations of toxic and harmful substrate may cause damage to nerve system, mental retardation or physical disability. However, if these diseases can be detected early, with early intervention and dietary control, patients with metabolic disorders do have a chance to live a normal and healthy life as others do. 

To advocate the concept of disease prevention, TFRD launches “Expanded Newborn Screening Pilot Project” in 2000. TFRD has been collaborating with newborn Taipei Pathology Center, Chinese Foundation of Health, National Taiwan University Hospital newborn screening center, China Medical University, Chang-Gung Hospital and  Mackay Memorial Hospital for the NBS Program. The new testing technology can screen nearly 30 kinds of rare diseases , including Maple Syrup Urine Disease(MSUD), Glutaric aciduria type I(GA-I) and Isovaleric academia (IVA), etc. by using tandem mass spectrometry, which takes only few drops of blood from a newborn baby’s heel to test.Newborn’s parents can learn the complete screening result by signing a consent letter.

After years of TFRD’s advocacy, in 2006, the government finally increased the screening items to 11 items. 2019, the government’s subsidy program for newborn screening has increased to 21, which leads to a better protection of the health of newborns.

Ever since the end of 2000,  TFRD have been subsidizing the screening fee for aboriginal newborns and newborns in low-income families. Still, TFRD continues to subsidize aboriginal newborns even after the government took over the NBS program. Until now,  TFRD subsidies 228,032 aboriginal and low-income newborn babies for the testing fee and the subsidy amount is $45,630,170 NT dollars.

Therefore, TFRD is awarded “Yuen-Shu Award” by the Council of Indigenous Peoples in 2017, which represents the special contribution to indigenous people.