Blood test can detect thousands of genetic conditions in pregnancy, scientists report
7 reported
Scientists have developed a new maternal blood test that can detect thousands of serious genetic conditions in the developing foetus, potentially reducing the need for invasive screening during pregnancy. The test, called non-invasive foetal sequencing (NIFS), relies on detecting tiny fragments of foetal DNA circulating in the mother’s bloodstream. Researchers tested NIFS on 565 pregnancies at an average of 17 weeks of gestation and found it identified 95-99% of genetic variants found by invasive methods and more than 97% of clinically relevant variants. The technique will be described at the European Society for Human Genetics conference in Gothenburg. While experts praised the test as a “tour de force,” some warned that exploratory screening could turn up genes of unknown significance, causing anxiety for parents.
What’s reported
The test is called non-invasive foetal sequencing (NIFS).
It detects foetal DNA fragments in the mother’s bloodstream.
Researchers tested NIFS on 565 pregnancies at an average of 17 weeks of gestation.
The test identified 95-99% of genetic variants found by invasive methods and more than 97% of clinically relevant variants.
Examples of conditions detected include Noonan syndrome, Charge syndrome, Stickler syndrome, achondroplasia, and dozens of other rare genetic disorders.
The test will be described at the European Society for Human Genetics conference in Gothenburg.
Amniocentesis, an invasive test, carries a risk of miscarriage in about one in every 200 pregnancies.
Key figures
Dr Christopher Whelan, senior computational scientist at the Broad Institute of MIT and Harvard
Prof Alexandre Reymond, University of Lausanne (not involved in the research)
Prof Angus Clarke, clinical geneticist at Cardiff University
Sources: The Guardian
