Thanks to in vitro fertilization and pre-implantation genetic diagnosis, in Rome and for the first time in the world, a healthy child was born to a woman suffering from Lynch syndrome, a serious hereditary form of colon and endometrial cancer. “An extraordinary result, which makes us proud and demonstrates the validity of these intervention techniques in counteracting the effects and negative consequences of hereditary tumors”, states Ermanno Greco, President of the Italian Society of Reproduction (SIdR) and Professor of Obstetrics and Gynecology at the UniCamillus University of Rome, which he adds. “There are no other cases of this kind reported in the world scientific literature, as ascertained in the registers of the European Society of Reproduction Uma.”
“Hereditary tumors (HCS) constitute 5-10% of tumor diseases – explains Greco – and are called this because their genesis is determined by specific genetic mutations in the patient’s DNA, which can be easily identified with a simple blood sample and with a molecular genetic investigation. The best-known hereditary neoplasms are those of the breast and ovaries, with an incidence of 1/300-400 people, followed by some specific neoplasms of the colon, rectum and uterus (endometrium), indicated as Lynch syndrome.
The incidence, in this case, is 1/400-500. Patients carrying these mutations are now subjected not only to continuous follow-ups, but also to preventive surgery such as bilateral mastectomy, oophorectomy, myomectomy. It is clear that all this has a very strong psychological impact on the patient and on his quality of life. The worry and sense of guilt in inevitably transmitting these mutations to offspring are a further important factor in the experience of these patients.”
According to Greco, then, “while waiting for a gene therapy that is not yet present, in vitro fertilization and, in particular, pre-implantation genetic diagnosis are scientifically certain tools for not transmitting the disease to children”.
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