Genetic diseases diagnosed within 50 hours
The new technology screens the whole genome of the baby from a drop of their blood before homing in on abnormalities in single genes that could explain their ill health.
Genetic diseases are thought to affect up to one in a hundred children and are one of the leading causes of admission to intensive care units immediately after birth.
In about 500 of the conditions - including Krabbe disease, a nervous system disorder - early treatment can prevent the development of severe disability and life-threatening symptoms.
Most of the diseases are extremely rare and many are unfamiliar to doctors, but analysing a baby’s genes to find the cause of their condition currently takes up to six weeks.
Researchers from Children’s Mercy Hospital in Kansas City said this could be cut down to 50 hours using the new method, described in the Science Translational Medicine journal.
