Newborn Screening In Latin America
Christina Briscoe Abath, MD EdM, BBF Board Member
Juan Francisco Cabello, MD
Agnieszka Kielian, MD, BBF Board Member
You likely had a small heel prick when you were born. If you have children, you probably saw this happen for them too. For most people, this small test is quickly forgotten. However, for about 1 in 1000 newborns, this heel prick test alters their life and family’s destiny.
Newborn screening is the process of identifying, confirming, and treating rare diseases before symptoms start. Diseases are added to the newborn screen when it is possible to prevent severe neurologic disabilities and/or death with early treatment. In the U.S., there are currently at least 35 conditions that are tested for by newborn screening. (babysfirsttest.org). Early initiation of appropriate treatment can also can be a cost-effective public health measure.
Unfortunately, even today, most newborns in the world do not have access to any newborn screening. As a result, children with treatable conditions die or acquire preventable severe intellectual and physical disabilities. During my short time in Chile, we saw multiple newborn babies with irreversible brain damage from diseases like Ornithine transcarbamylase deficiency (OTC deficiency) and Maple Syrup Urine Disease (MSUD). At least one of them died. If they had been diagnosed with newborn screening, they likely would have led normal lives.
Chile is in a unique position to be a starting point to change this reality. Unlike most other countries in Latin America, Chile already screens for two conditions and has a robust public health infrastructure to treat the diseases identified.
Before the COVID-19 pandemic, Dr. Cabello and his team from the Universidad de Chile (INTA, www.inta.cl) collaborated with the Chilean Ministry of Health to run a successful pilot program to expand the newborn screen to 26 conditions. Uruguay, Costa Rica, and other countries are in the process of expanding and improving their newborn screening programs. Others look to start newborn screening programs where none exist.
While newborn screening ultimately saves more money by preventing hospitalizations and severe disabilities, startup costs are very high. This prevents many public health systems from being able to afford them.
Brother’s Brother Foundation (BBF) collaborates with neurologists to reach people that are often most vulnerable and sometimes forgotten: people with disabilities in underserved parts of the world. Newborn screening has been one example, which has not received sufficient attention or funding from philanthropic or non-profit groups.
BBF looks to collaborate with physicians, nutritionists, and public health officials to close this important health inequity gap. By defraying start-up costs of the expanded newborn screening, we can help to give newborn babies and their families a chance to live out their best life. Your contribution, or sharing the link with possible donors, can help us make this a reality.