There is a new technology for amniocentesis, one of the most popular prenatal screening tests. The "super amniocentesis" uses the DNA sequencing technique to detect about 80% of genetic diseases. Today, the percentage is just 7%. The discovery is the researchers of SIDIP (Italian College of Fetal Maternal Medicine).

Traditional Amniocentesis and Villocentes only analyze the number of 46 chromosomes. This makes them very effective in detecting pathologies caused by anomalies in the number of chromosomes, such as Down syndrome. The goal of the researchers was to find an effective and efficient way to study the deep structure of the chromosomeSidip researchers have developed a technique that exploits total DNA sequencing, the Next Generation

Sidip researchers have developed a technique that exploits total DNA sequencing, the Next Generation sequencing (Ngs). Many laboratories already use Ngs for prenatal diagnosis, but the operation is slow and expensive. The new technique allows instead to look for the single genetic pathology so as to get a faster response. For this reason they have nicknamed "rapid sequencing" or Ngsd.

The new amniocentesis allows to exclude the most common chromosomal abnormalities in pregnancy. It can also check the presence of genetic diseases, congenital heart disease, brain illnesses, dermatitis, and more. Unlike the most common tests, it tests hundreds of pathologies at the same time, allowing a job that would otherwise require months.

For the time being, Ngsd is only available in private facilities and has a low cost for many families. It also suffers from the typical problem of normal amniocentesis, namely invasiveness. For routine prenatal screening, the best option remains fifth a non-invasive prenatal test.

Source: repubblica.it