World Rare Disease Day is commemorated every February 28, a key date to raise awareness of those suffering from rare diseases and the importance of research. Many of these diseases have a genetic origin and can be transmitted to offspring, which is a great concern for those who wish to start a family. Fortunately, reproductive medicine prevents the transmission of rare diseases thanks to tools such as genetic compatibility testing and Preimplantation Genetic Diagnosis (PGD), achieving safer pregnancies.
Rare diseases and genetic inheritance.
Rare diseases affect fewer than 1 in 2,000 individuals, which equates to millions of people worldwide. Many of them have a hereditary component, which means that they can be passed on from generation to generation. For those who carry a genetic mutation responsible for a rare disease, the fear of passing it on to their children can be a major concern.
Some of these pathologies can be serious and even incompatible with life, so the possibility of detecting them before pregnancy is a key advance in reproductive medicine. These include cystic fibrosis, spinal muscular atrophy, fragile X syndrome and Tay-Sachs disease, all of which have a significant impact on the baby's quality of life and development. Knowing whether we are carriers of certain mutations allows families to make informed decisions and increase the chances of having a healthy child.
Our tools to prevent transmission
At IGIN we perform the genetic compatibility test (detects up to 16,595 different mutations) included in all our IVF treatments. This test allows us to analyze the DNA of both members of the couple to find out if they are carriers of mutations in the same genes responsible for hereditary diseases. If both are carriers of the same mutation, there is a risk of transmitting the disease to their children.
When this risk is identified, a specific Preimplantation Genetic Diagnosis becomes an essential technique. It allows us to genetically analyze embryos obtained through in vitro fertilization (IVF) before implantation in the uterus. In this way, only those embryos free of the disease are selected, increasing the probability of a healthy pregnancy and a healthy baby.
Science and hope for families
Thanks to advances in genetics and assisted reproduction, more and more families can fulfill their dream of having children without the fear of passing on rare diseases. The combination of genetic compatibility testing and PGD not only allows for safer pregnancies, but also offers peace of mind and a greater chance of achieving healthy offspring.
Research and technology are key to continuing to offer solutions and hope to those who wish to start a family. Because a plan for a healthy future can be made even before birth.