Amniocentesis is a test performed during the second trimester of pregnancy to detect possible genetic malformations before birth. It consists of obtaining a sample of the amniotic fluid to analyze it, and for this it is necessary to puncture the amniotic sac, so it is an invasive test that can cause from mild discomfort to an abortion (although the risk of this happening is minimal) .

Precisely because of its possible risks, this test is only carried out when the pregnant woman is over 35 years old or there are other reasons that justify it. A new technique developed by a group of researchers from the University of Washington, in the United States, allows us to analyze the genome of the fetus and detect its possible anomalies, and in the future it could avoid the need to resort to amniocentesis or any other invasive test.

This new method would allow a much wider prenatal diagnosis than can be achieved with the tests currently available

With the new method, more than 3,000 genetic alterations can be identified in the fetus' DNA. To achieve this, the researchers analyzed a blood sample from a woman who was 18 weeks pregnant, in order to find out what genetic mutations could be transmitted to her son, and to study the DNA of the fetus, which during pregnancy is located in the torrent. blood of the mother. They completed the procedure analyzing the saliva of the father to also know the genetic variations that he could transmit to the future baby.

They found out - with an accuracy of 98% - the genetic variations that both parents could transmit to the fetus and those that occurred spontaneously in their DNA. This new method would allow a much broader prenatal diagnosis than can be achieved with the tests currently available.

At the moment, however, the use of this technique can not be extended for two reasons. One is its high cost, and another is the fact that there is only knowledge about a minority of the more than 3,000 genetic variations that it is capable of detecting. That means that discovering a certain genetic alteration does not mean that doctors can give any advice about it. For the moment, as the specialists admit, more data about the human genome has been obtained than can be interpreted to obtain useful information. But the investigation continues ...

Amniocentesis (Amniotic Fluid Test) (November 2019).