Amniocentesis is currently the most reliable prenatal diagnostic test to detect chromosomal abnormalities in the fetus. But science and technology are evolving, and although not immediately, everything seems to indicate that the amniocentesis will, in the long run, be replaced by a simple blood test of the mother.
For years, scientific research has predicted the end of amniocentesis, which will be replaced by a non-invasive prenatal diagnostic test.
Non-invasive prenatal diagnosis
The latest research on the road to the end of amniocentesis has been done by scientists at the University of Washington, who have opened the door to the non-invasive prenatal diagnosis. They have advanced in a new technique that allows to know the genome of the fetus and its anomalies without the need for an invasive test such as amniocentesis or chorionic biopsy.
They performed blood tests on pregnant women of 18 weeks gestation. In the mother's plasma they managed to analyze fetal DNA free cells, which are present in the maternal bloodstream.
Thanks to these samples they managed to predict with 98% accuracy the genetic variations that the fetus could inherit from its parents and also those alterations that could arise at random.
Non-invasive diagnosis allows to detect a range of more than 3,000 genetic alterations, more than those that can be detected with amniocentesis, including Down syndrome, Edwards or Patau syndrome.
Disadvantages of the new prenatal diagnostic technique
The problems posed by the new technique to be able to carry it out in a massive way are, on the one hand, the cost too high, and on the other hand that of many of the genetic variations that it detects there is no evidence that they produce a disease, so That cannot be advised.
Still, I think it's great news that Amniocentesis will eventually be replaced by a simple blood test. Being an invasive test, amniocentesis is at risk of abortion, in addition to the long waiting time and the anguish it entails for parents.
It would be necessary to improve, in my opinion, the moment in which the non-invasive diagnostic test is carried out since the 18 weeks of pregnancy I see it too advanced to make a decision. And on the other hand, they also do not specify how long the results are obtained in order to compare it with amniocentesis.
Everything suggests that in some years, once the problems have been resolved, amniocentesis will be a prenatal diagnostic test of the past.
