Mosaic Down Syndrome
Mosaic Down Syndrome (Mosaicism) is the least diagnosed form of Down Syndrome. Individuals with Mosaicism challenge conventional diagnosis because they may:
- Be high functioning
- Not present conventional physical traits
- Not test positive on prenatal or standard genetic tests
The International Mosaic Downs Syndrome Society receives volumes of calls, emails, posts, and photos from concerned parents who have been through genetic testing - but still believe their child has some form of Down Syndrome.
50 TRILLION vs 20: The real risks of a negative diagnosis
The standard genetic tests for Down Syndrome today examines 20 cells. Yet our bodies have over 50 TRILLION cells.
Individuals who are very high functioning, do not have conventional physical traits, or test negative may still possess the inherit health risks associated with Down Syndrome.
The IMDSA is launching a campaign to fund a pilot that will expand the testing beyond 20 cells for individuals who may have Mosaicism but don't test positive with a standard 20 cell genetic test covered by insurance.
The real risk of a negative diagnosis: Genetic testing cracks children fall through
If a child has a diagnosis of ADHD, Autism, or Down Syndrome in most places they are automatically eligible to receive vital services. Health care providers have likely been trained to monitor and screen for health conditions that may impact them. Educators design learning experiences to help them excel.
There are several post-natal tests to diagnose Down Syndrome:
- Standard: covered by insurance (20 cells)
- Buckle swab: which tests skin (300 cells)
- Blood draw: blood test (500 cells)
20 cells is not enough.
If a child with a chromosomal diagnosis such as Mosaicsm goes undiagnosed through a lab test they may not have access to the same medical or social services as an individual with a formal diagnosis of Down Syndrome.