Aurora magazine

A non-invasive prenatal test measures the risk of spontaneous abortion. The mechanism is the same behind prenatal diagnosis of Down syndrome and other diseases. Just a drop of blood to detect the chromosomal abnormalities of the fetus. This way you can understand what is the risk of complications, all before the 10th week of gestation.

Chromosomal abnormalities are present in 1 live-born baby on 1000. The most common ones are identifiable by special non-invasive prenatal tests that work with only one drop of blood. However, scientists are developing new tests to diagnose rare hereditary diseases and other abnormalities.

It is estimated that only 50% of the fetuses with rare chromosomal anomalies survive. Locating them in the early stages of gestation would measure the risk of spontaneous abortion. An Australian team then developed a prenatal test for this purpose. The researchers identified 90 rare chromosome abnormalities, of which 70% were associated with severe complications and abortion.

If the test is positive, doctors may advise you to proceed with more invasive tests. This would allow families to choose how to deal with the risk and to prepare for a possible loss of pregnancy.

Source: newscientist.com

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

Down syndrome is a condition caused by a chromosomal alteration, which causes delays in mental and physical development. What characterizes it is the presence of an extra chromosome in the cell nucleus too, specifically in the couple 21. The anomaly in question is known as trisomy 21 and in 98% of cases it is the result of factors still unclear, not attributable to ' inheritance.

There are three types of trisomy 21. In 95% of cases are referred to trisomy 21 full free, so all the body's cells have the anomaly. In 2% of cases occur in the free trisomy mosaicism, so there are both cells with the anomaly that normal cells. In 3% of cases we talk instead of trisomy 21 by translocation, for which the genetic material in most comes from other chromosomes. In the latter case, one of the parents may be a carrier of the translocation, and then the condition would be hereditary.

The causes of the chromosomal abnormality are still unclear. There are several theories about, that lead back trisomy 21 to chemicals and infections. None of these, however, was still confirmed. We know that 9% of conceptions has a trisomy, constant percentage in different populations, and that does not seem to have changed over time. Nevertheless, only 0.6% of children born with a chromosomal abnormality; in other cases, you experience a miscarriage. This suggests that the anomaly is a phenomenon linked to the way the man you play, which is not affected by changing environmental conditions.

You can use special prenatal diagnostic methods to detect the presence of trisomy in the embryo. In recent years it is spreading a non-invasive technique, which starts from a drop of the mother's blood. He is replacing the much more invasive amniocentesis, at least as regards the early stages of screening.

Children with Down syndrome suffer from some mental retardation and development, of varying severity. Speaking immediately with an appropriate rehabilitation, it is possible to recover part of the linguistic functions, motor and neuropsychological. As a result, children can become self down adults and well integrated into the social fabric