For The Better

735 Million Reasons to Celebrate International Neonatal Screening Day 2022

June 21, 2022
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International Neonatal Screening Day is celebrated annually on June 28, the birthday of Robert Guthrie, MD, Ph.D. (June 28, 1916 – June 24, 1995). Guthrie was an American microbiologist who pioneered newborn screening with the development of the first test for phenylketonuria (PKU).1This breakthrough not only saved countless lives but also paved the way for modern newborn screening as we know it today.

Newborn screening has been shown to be a relatively easy and cost-effective way of improving the overall health of a population. A simple heel prick of a newborn in the first week of life is all that is needed to screen for up to 50 inherited conditions.

Many disorders screened today show no signs in the first few weeks of life, meaning a seemingly healthy baby could have a condition that could affect mental and physical development or cause early death. Detecting potentially life-threatening conditions in the first stages of life through screening allows for timely treatment and therapies to be introduced. The treatment for conditions can also be straightforward and inexpensive such as dietary changes or the introduction of a supplement.

 Over 735 million babies have been tested for life-threatening diseases using newborn screening. Last year, 140 million PerkinElmer tests were used to screen babies in 106 countries for various disorders – saving the lives of around 70 babies each day on average.

While this is a day to celebrate the advances and successes of newborn screening, it also serves as a reminder that of 134 million babies born each year, around two-thirds (89.3 million) receive no screening at all.

In an effort to spark conversation around this issue, PerkinElmer is holding a free 3-day scientific congress – Newborn Screening World View 2022 from June 28 – 30. There will be formal discussions surrounding the latest advances in screening and projects initiating new screening services. This free event will have over 20 presentations from participants from 11 different countries. The sessions will be live-streamed during the event and will be available to all registrants on demand at a later date.

The journey to having all babies screened at birth is far from over, but progress is being made through the tireless work of clinicians, patient groups, policy makers, and lab workers. New services are starting, and existing services are expanding the number of disorders they screen, giving more babies a chance at a better life.

Footnote 1: https://academic.oup.com/labmed/article/40/12/748/2588794

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