A non-invasive method of prenatal genetic testing has been developed

A new non-invasive method of testing pregnant women to detect genetic abnormalities in the fetus has been developed. Unlike the standard invasive method of amniocentesis, which is costly and carries risks for the mother and fetus, the non-invasive fetal exome test requires only a blood sample from the expectant mother.

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

The new method, called "non-invasive fetal sequencing," can detect fetal genetic abnormalities by analyzing the mother's blood. 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.

In 14 pregnant participants who had also undergone the standard invasive exome sequencing procedure, the new non-invasive test was able to accurately detect all clinically relevant variants identified by the standard test. A total of 51 pregnant women in different trimesters of pregnancy were evaluated with the new method.

According to Harrison Brand of Massachusetts General Hospital, the method was able to detect and predict DNA sequence variants with a sensitivity of more than 99% in the initial analysis and more than 90% based on the processed data.

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.