Blood test can find thousands of genetic conditions in pregnancy, say scientists

Technique that examines fragments of foetal DNA in mother’s bloodstream could limit need for invasive screening, according to researchers

A new maternal blood test that can detect thousands of serious genetic conditions in the developing foetus could limit the need for invasive screening during pregnancy, according to scientists.

The test, to be described at the European Society for Human Genetics conference in Gothenburg on Saturday, relies on detecting tiny fragments of a foetus’s DNA that circulate in the mother’s bloodstream during pregnancy. Using advanced sequencing techniques, scientists were able to identify a very high proportion of genetic conditions, such as cystic fibrosis, that are currently only reliably diagnosed using amniocentesis or other invasive tests.