Researchers from the US have developed a non-invasive genetic test for prenatal screening . Their study on 51 pregnant individuals showcased the test's ability to analyze fetal DNA sequence variants through blood samples from mothers with >99% sensitivity from the raw data and >90% sensitivity after filtering using analysis methods. Unlike current invasive procedures, such as amniocentesis, the test, termed non-invasive fetal sequencing (NIFS), can screen most genes in the fetal genome without posing risks to the mother or fetus.
The high-resolution NIFS approach allows for a comprehensive examination of the fetal exome, identifying sequence changes and distinguishing between potentially pathogenic and benign variants inherited from the mother. This innovation holds promise for accurate and safer prenatal genetic diagnoses, eliminating the need for invasive procedures in many cases.…
