How is CADASIL diagnosed?

As can be seen from the charts here, there is a high risk (50%) that other family members could have CADASIL and be exposed to passing it onto future family members. Before any family testing, we strongly urge you to receive genetic counselling and please understand that the function of this open and two-way process is to guide you in your decision making so that you are fully aware of this disorder, how it is inherited, what your choices are for the current situation and for any future family.

It is imperative that you educate yourself in all the relative aspects of what it means to have CADASIL from how to diagnose it, what testing methods are used and what that involves, how to manage it, what reproduction options you have, how to prevent it and what resources and entitlements are available to you. The ultimate aim is for you to have every available piece of knowledge so that you can make educated choices. These are your choices and no one else’s so please make sure you are totally satisfied that you are in control of this very difficult situation.

Preimplantation Genetic Diagnosis (PGD)

Pre-implantation genetic diagnosis (PGD) is a technique that enables couples at risk of passing on a genetic disorder who undergo in-vitro fertilization (IVF) to have their embryos screened before a pregnancy is established so that only healthy embryos are selected to be transferred into the woman’s uterus. PGD can be used to screen for known single gene disorders.

Diagnosis

Diagnoses of CADASIL can be made through genetic testing which is done by a blood test which is extrememly accurate however it can be time-consuming. Scanning the brain using a magnetic Resonance Image (MRI) machine shows known characteristic changes to the brain and is very helpful in diagnoses and is very safe with no radiation involved. A skin biopsy is where a piece of skin is taken and under an electron microscope with high magnification. Abnormal collections of Granular Osmiophillic Material (GOM) is frequently seen as an indicator of CADASIL.

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