Newborn Screening In Chile

Brother’s Brother Foundation, in partnership with neurologists at Boston Children’s Hospital and their colleagues at the Instituto de Nutricion y Tecnologia de los Alimentos (INTA), Universidad de Chile, is working to acquire a mass spectrometer for newborn screenings in Chile. The mass spectrometer is a critical piece of medical equipment that can identify and subsequently help manage often life-altering health issues. By testing the blood from a heel stick from newborn babies, one test can be used to identify more than 40 different metabolic diseases. With early detection, these diseases can be effectively managed and treated – leading to healthy and normal development in babies.

In the United States, tandem mass spectrometry has been used in every newborn screening since 2007. However, it is estimated that less than one third of newborns worldwide have access to any screening test.

What Is Newborn Screening?

Newborn screening includes screening for certain serious conditions at birth, and for those babies with those conditions, it allows doctors to start treatment before some of the harmful effects happen.

Newborn screening is performed soon after birth, and in most cases, while infants and mother are still in the hospital.

The heel stick collects a small sample of blood and is performed when a baby is between 24-48 hours old. This timing is important because certain conditions may go undetected if the blood sample is drawn before 24 hours of age.

*(2022, June 28). Newborn Screening 101. Baby's First Test. Retrieved February 13, 2023, Found

Read more about this project and the role of the mass spectrometer in newborn screenings on our blog.