What are the chances of your child being born with a rare disease?

Dexeus Mujer offers its patients a genetic test to detect the most common hereditary diseases

01/06/18

Dexeus Mujer offers its patients a genetic test to detect the most common hereditary diseases

While most people will have heard of “rare diseases”, most of us are in the dark about them, unless we know somebody who is affected. However, the fact that these diseases are described as rare does not mean that they do not affect a lot people or that there are only a few. Over 6,000 rare diseases have been identified to date, and in Europe alone, 30 million people live with one. Furthermore, rare diseases can affect anyone, as they are usually caused by genetic abnormalities or non-inherited mutations whose cause is not always understood.

Some rare disease are hereditary, and current advances in genomics/genetics allow their identification and to reduce the risk of passing them on to our children. Specific tests like the qCarrier test available at Dexeus Mujer can detect if a person is a carrier with the potential to transmit a disease to their children. The qCarrier test relies on a blood sample to identify the presence of genes responsible for more than 300 diseases, such as cystic fibrosis, spinal muscular atrophy or fragile X syndrome. In our clinic, we test both ART patients and donors in order to determine their “genetic compatibility”.

The test is generally available to any person or couple wishing know the risks to their offspring, as it is an established fact that we all carry genetic abnormalities which could give rise to rare diseases. The only reason that we have no symptoms is that such genetic abnormalities do not cause disease unless both partners are carriers and transmit two copies of the same abnormal gene to their offspring. A possible preventative option is to resort to ART and Preimplantation Genetic Diagnosis (PGD) in order to select only healthy embryos for transfer into the maternal womb. For more information on the subject please contact our Medical Genetics Unit.

 

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