New Down’s test may replace surgery

Scientists have developed a blood analysis that tells expectant mothers whether they are carrying a child with Down’s Syndrome and hope to offer the test to all pregnant women.

The test could replace existing surgical techniques used to diagnose the genetic disorder in unborn babies. These techniques cause about one in 100 women to miscarry. Researchers say the new test will be cheap and simple enough for doctors working in most clinics to screen any pregnant woman who requests it.

In a blind study of blood samples taken from 40 pregnant women, the test correctly identified 14 cases of Down’s Syndrome, with no false positives, though a larger clinical trial is needed to validate these results. Details of the test are described in the journal Nature Medicine.

“The advantage is that we can introduce prenatal diagnosis for Down’s Syndrome to all pregnant women and it will have no risk for the baby,” said Philippos Patsalis, who led the team at the Cyprus Institute of Neurology and Genetics in Nicosia.

“I believe that in less than two years, we can have this in clinical practice,” he said. “All pregnant women might want to carry out the test so they know if they are carrying a Down’s Syndrome pregnancy or not.”


Baby’s genetic material in mother’s bloodstream
The syndrome is caused by the presence of extra genetic material from chromosome 21, which leads to learning difficulties, heart defects and a greater risk of dementia and leukaemia in later life.

Scientists developed the test after research showed that genetic material shed by the unborn baby could be detected in the mother’s bloodstream and used to spot the extra chromosome linked to Down’s Syndrome.

The test exploits the fact that regions of chromosome 21 from the baby carry more chemical tags, known as methylation, than the mother’s DNA.

It is one of a number of tests under trial that may become a reliable means of diagnosing Down’s Syndrome as well as other genetic disorders. —

Subscribe to the M&G

These are unprecedented times, and the role of media to tell and record the story of South Africa as it develops is more important than ever.

The Mail & Guardian is a proud news publisher with roots stretching back 35 years, and we’ve survived right from day one thanks to the support of readers who value fiercely independent journalism that is beholden to no-one. To help us continue for another 35 future years with the same proud values, please consider taking out a subscription.

Related stories

Advertising

Subscribers only

Poachers in prisons tell their stories

Interviews with offenders provide insight into the structure of illegal wildlife trade networks

Covid-overflow hospital in ruins as SIU investigates

A high-level probe has begun into hundreds of millions of rand spent by the Gauteng health department to refurbish a hospital that is now seven months behind schedule – and lying empty

More top stories

The politics of the Zuma-Zondo showdown

Any move made by the Zondo commission head or by former president Jacob Zuma must be calculated, because one mistake from either side could lead to a political fallout

Museveni declared winner of disputed Uganda election

Security personnel out in force as longtime president wins sixth term and main challenger Bobi Wine alleges rigging.

Pay-TV inquiry probes the Multichoice monopoly

Africa’s largest subscription television operator says it is under threat amid the emerging popularity of global platforms like Netflix and Amazon Prime

​No apology or comfort as another Marikana mother dies without...

Nomawethu Ma’Bhengu Sompeta, whose funeral will be held this weekend, was unequivocal in calling out the government for its response to the Marikana massacre
Advertising

press releases

Loading latest Press Releases…