Chemists discover new signatures to identify cystic fibrosis in infants sooner

ScienceDaily | 12/20/2018 | Staff
camkizzle (Posted by) Level 3
The findings, published online in the Journal of Proteome Research, are significant because current newborn screening methods are not accurate enough to identify the disorder in the population, which can manifest itself in many different ways, requiring additional testing and causing further stress for anxious parents.

"The earlier CF is detected, the earlier it can be managed and treated, which means better health outcomes for affected infants, including their future growth and development," says Philip Britz-McKibbin, lead author of the study and a professor in McMaster's Department of Chemistry & Chemical Biology, who conducted the research with graduate student Alicia DiBattista, now a postdoctoral fellow at Newborn Screening Ontario (NSO).

Amount - Blood - Heel - Babies - Part

A tiny amount of blood is drawn from the heel of all babies as part of universal newborn screening programs that test for many rare yet treatable diseases since babies usually have no signs of disease at birth, including CF.

In the case of CF, infants are screened for a pancreatic enzyme and then a panel of disease-causing genetic mutations associated with CF. However, further testing to confirm or rule out the disease finds that most babies who screen-positive do not actually have the disease. These babies are later found to be "healthy carriers" or their results are deemed to be "false positives."

Mind - Researchers - Signatures - Blood - Spot

With this in mind, researchers set out to determine whether they could discover chemical signatures in a dried blood spot that could better distinguish infants who have CF from those who do not.

Using less than a single drop of blood stored at NSO at the Children's Hospital of Eastern Ontario (CHEO), researchers analyzed and compared samples from infants confirmed to have CF with the samples of both healthy and screen positive infants. They found several new...
(Excerpt) Read more at: ScienceDaily
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