{"id":38748,"date":"2019-04-01T16:59:03","date_gmt":"2019-04-01T16:59:03","guid":{"rendered":"http:\/\/fertilityroad.com\/?p=38748"},"modified":"2025-05-07T16:05:28","modified_gmt":"2025-05-07T15:05:28","slug":"unmasking-genetic-disorders","status":"publish","type":"post","link":"https:\/\/fertilityroad.com\/da\/fertility-journeys-project\/unmasking-genetic-disorders\/","title":{"rendered":"Unmasking Genetic Disorders – How Spanish clinic, Dexeus Mujer are helping to make hereditary diseases a thing of the past"},"content":{"rendered":"

Genetics is a field of science that has always fascinated us; just take look at how many front pages and news stories cover such advances \u2013 remember Dolly the sheep, or the Human Genome Project?<\/p>\n

We continue to be fascinated, engaged and excited by such advances, recognising that only by pushing the boundaries of medical research will we understand the true nature of hereditary disease; improve its prevention and develop effective treatment and therapies.<\/p>\n

Advances in the field of genetics and new technologies have rapidly increased momentum in the field of reproductive medicine.
\nThe development of techniques such as Preimplantation Genetic Diagnosis, Test qCarrier (Preconception Genetic Test) and non-invasive Prenatal Tests have been used effectively in cases where the health of a baby might be compromised.<\/p>\n

The Medical Genetics Unit at Dexeus Mujer has been at the forefront of the use of these techniques in the gynaecological field. Since its inception, the Unit has worked closely with the reproductive medical team in order to evaluate each patient and be in the best possible position to offer appropriate advice and treatment where required.<\/p>\n

The science of Genetics is complicated and not surprisingly, for many, it is a science which is difficult to grasp<\/p><\/blockquote>\n

What are chromosomes and genes?<\/h3>\n

The science of Genetics is complicated and not surprisingly, for many, it is a science which is difficult to grasp. At Dexeus Mujer, our geneticists take time to explain, interpret and share genetic information in the most accessible manner possible. We want to ensure all our patients fully understand their specific medical position and are aware of all the genetic risks associated with it.<\/p>\n

So, let’s start by understanding the basic elements: chromosomes and genes. Chromosomes are structures that contain all the genetic information of a human being. In every cell of our body, there are 46 chromosomes, or 23 pairs. Each pair is composed of a chromosome that has been transmitted by the mother and one from the father. The first 22 pairs are common in men and women, but chromosome 23 defines the gender of the individual: it is composed of two chromosomes, X and Y; XX for females and XY for males.<\/p>\n

The genetic information contained in the chromosomes are stored as genes, which are found in the nucleus of every cell. There are more than 20,000 genes in each cell and each one of them has one or more specific functions in our body. Each person inherits 23 chromosomes from each parent at the time of fertilization. If however there is a dysfunction caused by a defect in some of the genes, mutations that cause genetic diseases appear.<\/p>\n

When should you ask for genetic counselling?<\/h3>\n

The Medical Genetics Unit at Dexeus Mujer offers personalized advice to anyone who wants to evaluate potential risks and learn about diagnostic tests, prevention and detection of genetic abnormalities.<\/p>\n

The study the clinical history of patients, as well as family history to assess potential risks and inform you of all the available options which are currently provided in the field of reproductive medicine.<\/p>\n

Genetic counselling service<\/strong> is offered to any person who requests it, although there are certain circumstances in which the visit is particularly recommended:<\/p>\n