Screening for fragile X sidelined

From The Australian, 21 February 2009:
Emerging into the cold, harsh light of the delivery room can hardly be a pleasant experience for newborns. And to add insult to injury, just as they are adapting to this new world a baby’s delicate, soft heel is assaulted with a needle and several drops of blood are drawn.
It’s only a brief torment, and one that has the potential to save that baby’s life. Those few drops of blood are used to diagnose a range of diseases, where early diagnosis and intervention can make a huge difference to that child’s quality of life. Newborn screening has saved countless children from the worst ravages of conditions such as phenylketonuria — a genetic disorder that can damage brain development but which can be minimised with dietary changes if caught early.
But this screening is far from comprehensive. One disorder not currently on the testing list is fragile X syndrome — something that researchers from Australia and the US are now working to change.
Fragile X syndrome is the most common cause of inherited intellectual disability, even though it affects only about one in 3600 males and between one in 4000 and one in 6000 females. It’s caused by a genetic abnormality on the X chromosome, where a single sequence of three DNA base pairs is repeated far too many times, with devastating consequences. Read more.

Leave a Reply

Fill in your details below or click an icon to log in: Logo

You are commenting using your account. Log Out /  Change )

Twitter picture

You are commenting using your Twitter account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )

Connecting to %s