Prenatal diagnosis of a rare disease or genetic syndrome
Rare diseases have a low incidence in the population of less than 1 in every 200 inhabitants.
However, together, they affect around 7% of the population, which equates to some 3 million people in Spain. They are chronic, highly diverse diseases with high morbidity that often lead to an early death. An ability to reach an early and accurate diagnosis can make a qualitative difference as regards management of the patient, thus improving their quality of life, prognosis and evolution. IMEGEN provides access to the most appropriate genetic tests, thereby providing an accurate and reliable diagnosis.
Whenever a rare disease is diagnosed in a family, it is essential to try to identify the genetic cause of that disease, in other words to establish a genetic diagnosis.
In couples carrying one of these rare diseases, or with a history thereof, a prenatal genetic diagnosis can be performed to detect the presence or absence of the genetic cause of that disease.
A sample of foetal DNA, which is normally obtained by way of an invasive test such as an amniocentesis, is required for that purpose.
Foetal abnormalities that may be related to a genetic syndrome can also be detected during pregnancy in ultrasound scans. In such cases, a prenatal diagnosis may be performed to identify the genetic cause and determine its diagnosis and prognosis.
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