Some babies are born with genetic diseases that could be treated effectively if they are detected early, and thus avoid serious complications or even the death of the child. To speed up the diagnosis, a team of scientists has developed a new test that analyzes the genome of the baby and is completed in just 48 hours, which would allow early approach to this type of pathologies.

The scientists who have created the new genomic analysis, which belong to the University of Kansas, in the United States, have successfully tested their method to confirm the diagnosis of two known cases, and in three of the four cases described in the investigation. Your next goal is to test it on a larger sample that includes around 100 newborns, as well as reduce the time it takes to get results from 48 to 36 hours.

Currently, the delay in the diagnosis of certain genetic diseases causes the treatment to start late and the baby may suffer sequelae

At present, the delay that occurs in the diagnosis of certain genetic abnormalities has as a consequence that the treatment arrives too late, or that some therapy has already been initiated, but it is not the most appropriate, since some of these rare diseases present different symptoms according to the affected baby, so the suspicions must be confirmed by tests, whose results may take weeks or months to be known.

Therefore, determine what is the disease that the baby suffers, even if there is no curative treatment for it, avoid being given inappropriate drugs that could harm you, in addition to saving their parents the suffering that generates uncertainty and false hopes .

According to the authors of the research, the cost of the test is around 8,000 euros - a price similar to other tests that only analyze one or two genes - but taking into account the costs of staying in neonatal ICUs, it could save costs if the cases are correctly selected.

What is Newborn Screening? (November 2019).