Pregnancy may become significantly safer for women who need genetic diagnosis of the fetus. Scientists have presented a new blood test that can detect thousands of serious inherited diseases without amniocentesis or other invasive procedures. The technology is called NIFS, or non-invasive fetal sequencing, and is based on analyzing small fragments of fetal DNA circulating in the mother's blood.
In testing the method, researchers examined 565 pregnancies. The new test detected 95–99% of the genetic variants identified by invasive sequencing, and more than 97% of clinically significant changes were successfully recognized. Among the conditions detected were cystic fibrosis, Noonan syndrome, CHARGE syndrome, Stickler syndrome, achondroplasia, and many other rare inherited disorders.
Today, non-invasive prenatal tests are already widely used in many countries, but they usually detect only a limited number of chromosomal disorders — for example, Down syndrome. Everything else more often requires amniocentesis or chorionic villus sampling. These procedures provide very accurate results, but they involve penetrating the uterine cavity, which creates additional stress for the expectant mother and carries a risk of complications.
According to the developers, NIFS is primarily intended for cases in which ultrasound has already revealed possible abnormalities in fetal development. If the technology proves effective in further studies, it could significantly expand safe prenatal diagnosis and reduce the number of invasive procedures.
