Inclusion Criteria for Pilot Study: People of any age, gender, race, or ethnicity will be eligible to join this pilot research study. Other inclusion criteria for the participants are noted below:
1. Individuals must have been evaluated by a geneticist/dysmorphologist if this specialist is available in their geographic area. If the person placing the query has not seen a geneticist, we will attempt to provide them with the name of a resource(s) for this service in their area.
2. The parent/individual must have received a previous “normal” chromosome (or microarray) test result. Specifically, no previous diagnosis of Down syndrome of any type. The potential study participant or their parent/legal guardian should provide a copy of this report and/or sign a completed medical release form to enable the research team to obtain a copy of this report.
3. The parent/individual must provide a history of the evaluations that have been obtained for the study participant. If possible, they should provide copies of previous reports and describe the evaluations that the child/self-advocate has received, to date.
4. The parent/individual should provide a list of traits leading them to suspect a diagnosis of mosaic Down syndrome. This list is anticipated to be a non-technical list (not from the physician) based on the parent’s and/or self-advocate’s observations that caused them to suspect a diagnosis of mosaic Down syndrome (e.g. why did they contact the IMDSA personnel with this query of un-diagnosed mosaicism). Ideally, pictures/electronic images.
5. The parent/individual will assume responsibility for locating a health care provider to collect the blood specimen. The study participants are requested to pay for fees associated with the blood collection (if these are incurred). *If the individual/parent(s) cannot afford the costs of the blood draw please contact an IMDSA representative to discuss options.
6. The participant (or their parent/legal guardian) will need to provide informed consent (with written documentation). The study will be explained to the participant and they will be given the opportunity to ask questions to ensure they understand the study and the tasks that will be requested of them as a participant. If they give their informed consent, they will need to sign an IRB-approved consent form to document their consent.
7. The participants will not be charged for the chromosomal testing associated with this pilot study. The participants will be provided with a summation of the results of their individual study as soon as they are available. However, since this is a research project, it is important that the participants and/or their family members realize that the timeline for obtaining these results is likely to be longer than the time line for obtaining diagnostic tests.
If you or your child that you suspect with mDs meet these criteria. please fill out the pre-approval form here. Once you have filled the form out please allow for 7-14 business days before someone from IMDSA to contact you.
If you have any questions please contact Megan Shoup at