A new non-invasive method of prenatal genetic testing

The standard invasive method for diagnosing genetic abnormalities in the fetus is performed with amniocentesis, which carries certain risks.

A group of researchers from Harvard Medical School has developed a new non-invasive genetic test to determine the fetal exome by analyzing the blood of pregnant women. The results of the study are published in the New England Journal of Medicine.

The study was performed with 51 pregnant women in different trimesters of pregnancy. In 14 participants, who also underwent the standard invasive exome sequencing procedure, the new non-invasive test was able to accurately detect all clinically significant variants detected by the standard test.

The test showed high sensitivity in detecting single DNA base substitutions, insertions and deletions in the fetal genome that were absent in the mother regardless of the amount of fetal DNA detected.

The researchers believe that the developed method will avoid the invasive procedure of genome sequencing. The scientists are planning additional studies with a larger number of participants.