32nd MACB Conference 2022

Integrated Approach In Medical Laboratory:
Challenges And Opportunities

Newborn Screening: A Quick Heel Prick Can Prevent Life Threatening Conditions

Newborn screening is fast, easy and effective. A simple heel prick provides the necessary blood for an initial screening analysis and detection of presumptive cases for follow-up confirmatory testing. Thanks to this screening, hundreds of thousands of babies each year worldwide could avoid a lifetime of disability or even death. Unfortunately, not all families and their babies have access to the wide range of available tests.

One example of a disorder would be congenital hypothyroidism. In the Middle East, one study found the occurrence of this condition in approximately one out of every 1,400 to 2,000 children.1 If left untreated within the first few weeks of life, it can lead to short stature and mental retardation. The treatment is relatively simple and inexpensive. When the condition is diagnosed and treated early, it can keep children physically and mentally healthy for the rest of their lives. The key to successful treatment is catching this condition in time.

What is newborn screening

Newborns in only a few countries receive screening for all of the more than 30 conditions known to have good outcomes when detected and diagnosed early. Of the 134 million babies born in the world each year, only about one third receive screening of any type, and many babies are only screened for one or two conditions.

The impact of newborn screening can increase as population coverage expands to new regions, as tests for more disorders are implemented, as the appropriate infrastructure to support a screening program is developed, and as healthcare workers are trained in specimen collection, clinical diagnostics and treatment, including site inspections and overall program management. Only through comprehensive, sustainable screening programs can we protect our newborns. If each partner works together, we have the ability to improve or save the lives of at least 100 newborns every day (more than one baby every 30 minutes).

PerkinElmer is the global market leader in neonatal screening, currently serving customers in more than 100 countries. We are a total solution provider offering complete systems based on a broad range of high quality, validated products, including newborn screening kits, consumables, instruments and software.

References

  1. Soliman, Ashraf T., et al. “Linear growth and neurodevelopmental outcome of children with congenital hypothyroidism detected by neonatal screening: A controlled study.” Indian J Endocrinol Metab. 2012 Jul-Aug; 16(4): 565–568.
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