"What attitude should we adopt with young people who intend to become parents when there is the risk that they are suffering from CADASIL and transmitting the disease?"


This issue raises many questions, human and ethical. For a couple who is considering giving birth to a child, while the parent, father or mother, has a 50% risk of carrying the mutated CADASIL gene, we must first ask the following questions.

• The couple wants to know if either is inherited with the mutated gene from their parents? And if he/she knows that one is a carrier, how to initiate procedure to avoid transmission? In this case, the couple must apply to a center of Prenatal Diagnosis (PND) (there is one in each university hospital) where they will be provided with assistance to refine their thinking, at a meeting with a geneticist, a gynecologist-obstetrician and a psychologist. When pregnancy is started, a sample will be made around the tenth week on a small piece of placenta, which is the tissue surrounding the fetus. Following the genetic analysis of this sample, prospective parents may be faced with a situation to decide an abortion if the future child is a carrier of the genetic defect.

Date: March 2012

CADASIL General Meeting (www.CADASIL.com)


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