Detecting genetic disorders in the unborn

The following is an edited excerpt.

It is now possible to sequence the entire genome of an unborn baby with only a sample of the mother’s blood, California researchers report. This means that metabolic and immunologic disorders can be detected prior to delivery and treatment can be started immediately after birth.

“What happens now is that infants suffer as symptoms become apparent after birth because it takes time to determine the diagnosis,” said Stephen Quake, DPhil, professor of bioengineering and applied physics at Stanford University in California.

“There is value in knowing before infants are born that they have a treatable disorder. Then they can be treated immediately after delivery without a lot of confusion early on,” he explained.


Read the full article here: Detecting Genetic Disorders in the Unborn

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