PerkinElmer: What is newborn screening? Animated video for parents

Date: June 11, 2018

PerkinElmer Video: With certain rare but serious diseases, children affected usually appear healthy at birth. Newborn screening is about finding these diseases before symptoms appear. Screening can greatly improve the babies' future. In metabolic diseases, starting treatment quickly can prevent irreversible damage that can lead to learning disability, other serious health problems, and even death. Once When the diseases are found through screening and treated in time, the children have a normal life with minimal disruption. Screening tests are performed on dried blood which is collected on filter paper when the newborn is two to five days old. If the screening results are normal, as they are in most cases, no further procedures are needed. However, if the screening results indicate the possibility of a rare disorder, the family may be contacted immediately so that further procedures can be initiated. Immediate procedures include taking a new blood sample from the baby to confirm the initial test result and referring the newborn for diagnostic testing and/or examination by a specialist. Newborn screening for rare diseases is of economic significance as well. The treatment costs for a single patient can rise even above a million euros dollars when the diagnosis is made, and treatment is started only after symptoms appear. A single screening test costing only a few dollars can enable an earlier diagnosis and lower total treatment costs. Long-term savings gained by screening are of such significance that the healthcare investments needed are easily justified.