Thanks to in vitro fertilization and preimplantation genetic diagnosis, in Rome and for the first time in the world, a healthy baby 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 cancers," says Ermanno Greco, President of the Italian Society of Reproduction (S.I.d.R.) and Professor of Obstetrics and Gynecology at the UniCamillus University of Rome, who adds. "No other cases of this kind are reported in the world scientific literature, as ascertained in the registers of the European Society of Reproduction (UMA)."
"Hereditary tumors (HCS) make up 5-10% of cancer diseases," explains Greco, "and are so called 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 molecular genetic investigation. The most well-known hereditary neoplasms are breast and ovarian cancers, with an incidence of 1/300-400 people, followed by some specific colorectal and uterine (endometrial) neoplasms, referred to as Lynch syndrome.
The incidence, in this case, is 1/400-500. Patients carrying these mutations today are subjected not only to continuous follow-up, 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 his quality of life. The worry and guilt of inevitably transmitting these mutations to their offspring is another important factor in the lives of these patients."
According to Greco, then, "while waiting for a gene therapy that is not yet present, in vitro fertilization and, in particular, preimplantation genetic diagnosis are scientifically certain tools for not transmitting the disease to children."
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