July 5, 2022

Non-invasive tests to target birth defects

Easier to detect Down syndrome

There has been more progress towards a non-invasive test which can detect genetic disorders in a foetus. In a study in the Proceedings of the National Academy of Sciences, researchers found that they can tell whether an unborn child suffers from inherited monogenic disorders such as cystic fibrosis and sickle cell anaemia by analysing a blood sample taken from the mother. The baby’s DNA, scientists have discovered, floats in its mother’s blood.

However, the researchers admitted that the technology for a non-invasive test is currently expensive and inefficient, and that clinical trials are at least three years away. Earlier this year Sequenom, a company in San Diego, and Stanford University both announced that they had developed tests which can detect Down Syndrome and other chromosomal disorders from a maternal blood sample. ~ Wall Street Journal, Nov 25


Down syndrome