'New Pre-natal Test Cheaper, More Accurate'

Chinese University researchers say a new pre-natal test they introduced earlier this year has proven to be more effective than conventional tests in identifying rare, life-threatening genetic disorders in foetuses.

While rare genetic disorders like Williams-Beuren, Prader Willi or Angelman only affect up to one in every ten thousand babies, these conditions can cause severe problems, ranging from intellectual disability to delayed growth and heart problems.

Chinese University scientists say their new test, Low-pass Whole-Genome Sequencing, is better than the old test at identifying such problems, and it's 40 percent cheaper to boot.

Researchers ran parallel tests on around a thousand expectant mothers. The new test identified 138 genetic abnormalities – 17 more than the old test.

Professor Richard Choy of the university's medical faculty compared the old test to something like a sub-standard fishing net.

“The deficiency of the micro-array is that the net is not even, so some of the space is larger, some of the space is smaller. So if you use that net to catch a fish, you may not be able to have a good selection of what you want”, he explained.

Studies were launched in 2016, and the new test is now available to the general public – in a first for Asia.

Researchers say the 1.7 percent increase in the diagnosis rate may not sound like much, but this means that affected families can make a more informed decision on whether to continue on with the pregnancy or not.

These kinds of invasive gene tests are usually conducted after initial screening –via ultrasound or tests for Down's syndrome.