UNa silent revolution is taking shape in the field of prenatal medicine. The researchers of the Duke University they managed to identify 300 genetic diseases which can be diagnosed and treated already during pregnancy or in the very first days of the newborn life. The discovery, published on‘American Journal of Human Geneticsrepresents an authentic turning point for millions of families all over the world.
Prenatal medicine, identified 300 genetic diseases: the study of Duke University
The scope of this discovery is even more significant, if we consider the numbers: Every year about 8 million children are born with congenital malformations worldwide, of which over 25,000 in Italyaccording to 2022-2023 data, numbers that unfortunately remain stable over time. Behind these figures are there stories of suffering, difficulties and daily challenges that could be radically transformed from the possibility of intervening before the disease has time to completely manifest itself.
Sequeniation the fetal genome taken during gestation
The heart of the discovery, He lies in the possibility of sequencing the fetal genomethrough samples taken during gestation. This technique, increasingly refined in the last ten years, Today allows to identify early pathologies which, if treated promptly, may not manifest or present a much lighter course. The list of potentially negotiable conditions is large and varied: cardiopathies, metabolic disorders, diseases of the immune system and numerous other rare conditions which, until recently, left concrete alternatives to families and doctors.
Hundreds of genetic diseases, so far considered inevitable, can be diagnosed and treated before even a child comes to light (Getty)
Prenatal diagnosis and early interventions to change the course of the disease
Timpiness is the key factor of this innovative therapeutic perspective And, the study highlights two possible moments of intervention: during pregnancy itselfwith treatments already clinically available for some specific pathologies. In the days immediately following birthwhen it is possible to intervene to reduce or even prevent the damage caused by the disease.
“One of our goals is to expand the options available to families during pregnancy – said Jennifer Cohen, author of the study – A early intervention can, in many cases, change the natural history of the disease. But to do so you need clarity, accompaniment and fair access to this information ».
Towards a public list of negotiable diseases
The most innovative proposal made by researchers, It is the creation of an official and public list of genetic diseases negotiable in the fetal or neonatal phase. This document should be made available to all people in pregnancy who decide to undergo fetal genetic sequencing. The objectives of this tool would be manifold:
- inform families in advance about potential genetic risks
- plan prompt interventions through therapies already available or in advanced experimentation phase
- allow conscious choices, supported by a team of specialists
The challenge of genetic information in prenatal medicine
Sequencing of the fetal genome generates a huge amount of data, many of which concern conditions not directly linked to the current clinical picture of the fetus. This complexity, risks overloading families with difficult information to interpret without adequate preparation. For this reason, the authors of the study underline the importance of a multidisciplinary approach. Families should never face the weight of so delicate and complex decisions alone. A team made up of doctors, nurses and genetic consultants should accompany parents and future parents along this path, making data understandable and useful, without generating unjustified anxieties.
A new frontier with potential and responsibility
There Possibility to intervene on 300 genetic diseases Even before these manifest themselves, it represents an exciting frontier of modern medicine. However, like any great innovation, pOrta with him not only opportunities, but also responsibilities.
Duke University researchers know it well and for this reason, next to the scientific results, they wanted to underline the “potential benefits, the limits and the risks of a list of negotiable fetal results”. The goal is clear: provide a tool that can really improve the lives of millions of children and their familieswhile guaranteeing aware choices and fair access to the new therapeutic possibilities.
I woman © RESERVED REPRODUCTION