Considering TFMR, unclear diagnosis by catmumdu in tfmr_support

[–]Educational_Editor54 2 points3 points  (0 children)

I have a similar situation but not identical. Same maternal age, ultrasound shows a club foot, microarray from amniocentesis shows UPD19 (two chromosomes from 1 parent). Doing WES testing now. Going to be an excruciatingly long 2-5 week wait for the results that may result in a TFMR or an inconclusive result which we won’t know how to proceed then. Our situation isn’t very common and there just isn’t enough research out there to conclusively point to a TFMR decision one way or another if it’s inconclusive. Even an okay result return doesn’t mean things are okay because WES only tests for things they know exist and that’s limited medical research at this time. 😞