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)