Pre-implantation diagnosis also for fertile couples who are healthy carriers of genetic diseases

Another (yet another) prohibition of law 40 falls which by now year after year has literally lost all the pieces one after the other.

The Consulta has dropped the ban on couples who are healthy carriers of genetic pathologies from accessing assisted reproduction techniques and accessing pre-implantation diagnosis. Thus the sentence of the European Court of Strasbourg was applied, which affirmed the violation of the ‘art. 8 on human rights in denying pre-implantation diagnosis to fertile patients.

The request to drop the ban was carried out by some couples through the Luca Coscioni association.

” What we only want is a peaceful pregnancy, which does not end with an abortion or with a child with very low chances of survival.  We just try to create a family in a country that is always portrayed negatively due to its low birth rate. Concepts such as selection, eugenics, suppression of embryos are far from us. We are people to whom nature has imposed the transmissibility of a disease that out of love we do not want to pass on to our children. We don’t want to feel excluded from our country and be forced to go abroad to have a child”.

In Italy there are about 2,000 couples with rare genetic diseases for which the outcome of a pregnancy up to now was a lottery. Among these pathologies we find thalassemia and cystic fibrosis which are the most common, but also many other rare pathologies such as Becker’s dystrophy or malformations not compatible with life that expose women to repeated miscarriages.

Now these couples will be able to resort to assisted fertilization and pre-implantation diagnosis.

Preimplantation diagnosis (PGD) consists in taking and analyzing some cells of the embryo in the blastocyst stage:

PGD ​​cannot be applied to some genetic diseases from de novo mutations, to diseases for which the gene or chromosomal locus is not known, and to mitochondrial diseases .

At this point, however, a legislative vacuum remains that needs to be filled. What will become of the “discarded” embryos? At the moment will they be cryo-preserved pending a new law?

Law 40 or what is left of it is no longer able to give regulations and answers.

How much longer will we have to wait to regulate assisted fertilization once and for all?