The ban on pre-implantation diagnosis for fertile couples suffering from transmissible genetic diseases has fallen, we celebrate the birth of the first children to come into the world thanks to the battles conducted in court
Pre-implantation diagnosis for fertile couples
These are special days for the Luca Coscioni Association and for all couples who dream of having a baby but need a preimplantation diagnosis even if they are not infertile. I am, in fact, three children were born “Children” of the changes to the Law 40 for which associations and couples have fought so much in recent years.
Thanks to guarantee of the right to access to treatment and to all assisted fertilization techniques, including those that allow preimplantation diagnosis, two couples have managed to fulfill their dream of becoming parents.
What is preimplantation diagnosis
It is a technique that allows all couples who undergo medically assisted procreation to know it state of health of the embryos before implantation and therefore the beginning of pregnancy, in this way gestational risks are reduced, including therapeutic or spontaneous abortion and fetal chromosomal and genetic syndromes.
As he explains Laura Rienzi, Adjunct Professor in Biotechnology of Assisted Reproduction, Department of Biomolecular Sciences, Carlo Bo University, Urbino and President of the Italian Society of Embryology, Reproduction and Research (SIERR):
The genetic component is fundamental in human reproduction and the technological advances in our possession allow high accuracy in the identification of embryos with a normal chromosomal makeup and / or not affected by genetic mutations present in the parental karyotype. Pre-implantation diagnosis is therefore considered a valid alternative to pre-natal diagnosis. In fact, this technique aims to allow couples (fertile and infertile) to be informed about the state of health of their embryos before the onset of pregnancy and in this way to minimize gestational risks such as spontaneous / therapeutic abortion. and fetal chromosomal / genetic syndromes. Pre-implantation diagnosis is therefore a fundamental and accurate diagnostic tool, widely recognized by the scientific community, which should be made accessible to every couple at risk as well as pre-natal diagnosis.
Battles in court to change Law 40
There Law 40, as it was conceived in 2004, authorized access to the assisted fertilization – and therefore also the preimplantation diagnosis – only to infertile or sterile couples and not to fertile couples who are carriers of genetically transmissible diseases. The battles conducted in recent years in the law courts Italians have led to numerous judgments which profoundly modified Law 40. The changes concerned various techniques that were prohibited, not least the famous heterologous fertilization which is now also accessible in Italy thanks to a sentence.
And the courts have also turned to fertile couples but carriers of genetically transmitted diseases who wanted to have a baby with assisted fertilization and preimplantation diagnosis to make sure the fetus did not have the same disease as theirs.
A few years ago two couples won this legal battle and allowed the revision in this sense of the law 40: since then other couples have also been granted the right and the joy of being able to be parents, and who today welcome the children of these battles, children who would never have been born. In addition, in 2012 the court affirmed the obligation for the facilities that provided MAP services to guarantee access to couples requesting preimplantation diagnosis.
L’Luca Coscioni Association has, therefore, celebrated two great victories in recent years:
in 2012 the obligation for public centers offering assisted fertilization techniques was recognized to also guarantee pre-implantation diagnosis;
in 2015 the court authorized the use of preimplantation diagnosis also for fertile couples but carriers of hereditary diseases.
And thanks to these milestones reached two children were born who otherwise would never have come to light. They are the children of Valentina and Fabrizio and of Maurizio and Claudia.
The battle continues and certainly cannot stop there. During a recent conference theLuca Coscioni Association he recalled that to date in Italy the National Register on Medically Assisted Procreation it has a total of 359 centers, of which only 43 carry out preimplantation genetic diagnosis and there are still limits imposed by the law that must be overcome. An example for all is that relating to blastocyst and ai cryopreserved embryos which are not suitable for pregnancy and which could be donated to scientific research. A prohibition contemplated in Law 40, explained Filomena Gallo, secretary of the Luca Coscioni Association, who
prefers not to distinguish between embryos for MAP techniques and embryos not suitable for these techniques because they will never lead to a pregnancy that remain cryopreserved in the MAP centers without the possibility of using them in any way
The story of Valentina and Fabrizio
The young couple is expecting a baby but Valentina is a heterozygous carrier of a balanced reciprocal translocation between the short arm of a chromosome 3 and the long arm of a chromosome 5 with break points respectively in 3p25 and 5q33, a transmissible genetic pathology very serious, diagnosed in 2006 by the Medical Genetics Laboratory of the Tor Vergata Polyclinic. The villocentesis performed on the fetus highlights serious problems in the unborn child, for which the couple must resort totermination of pregnancy. After having lived atraumatic experience, the couple sets out in search of a center to carry out the preimplantation diagnosis with assisted fertilization but fails to do so and decides to contact the Luca Coscioni Association which identifies in the Physiopathology of Reproduction and Assisted Fertilization Unit, Centro for Women’s Health S. Anna a public center authorized to apply III ^ techniques level and therefore able to perform in vitro fertilization and to provide information on the state of health of the embryo. Valentina and Fabrizio turned to the Constitutional Court in 2015 which declared the constitutional illegitimacy of articles 1, paragraphs 1 and 2, and 4, paragraph 1, of the law of 19 February 2004, n. 40.
Thanks to this sentence, the two young people managed to fulfill their dream and become parents.