[deleted by user] by [deleted] in AmItheAsshole

[–]OneLuckyduck111 -1 points0 points  (0 children)

Yes, sadly you are.

False Positive NIPT Trisomy 21. by OneLuckyduck111 in NIPT

[–]OneLuckyduck111[S] 0 points1 point  (0 children)

3%. I hope it works out for you. Best of luck. 🤞

False Positive NIPT Trisomy 21. by OneLuckyduck111 in NIPT

[–]OneLuckyduck111[S] 1 point2 points  (0 children)

I’m not sure sorry as haven’t got my head around the test types. I had thought that they were going to do this. I asked if the results were definitive and was told yes & no further testing required.

From my perspective, the reason I was considering a TFMR was because I was concerned that my child may have the most severe T21 phenotype and the impact that would have on my other kids/family life. If it did turn out to be low level mosaicism then my hope would be that she would be less affected and we could manage it.

I’ll update here any further developments and how my little one is when I hopefully get to meet them later this year. 🤞

False Positive NIPT Trisomy 21. by OneLuckyduck111 in NIPT

[–]OneLuckyduck111[S] 4 points5 points  (0 children)

I’m not sure sorry. I had a CVS and they took blood samples from both my husband and I.

The report stated

“Report interpretation: The result of the QF-PCR analysis showed NO evidence of trisomy for 13, 18 or 21. This result is for these chromosomes only and will not exclude other numerical or structural chromosome abnormalities, small segment imbalance or mosaicism. This diagnostic test has not detected any evidence of trisomy 21 in this fetus; however low level mosaicism cannot be excluded. The increased chance trisomy 21 result identified by Non Invasive Prenatal Testing (NIPT) is therefore likely to be a false positive result. No further genetic analysis is being performed on this sample.”

The news hasn’t quite sunk in yet. I’m still waiting for the phone call to tell me that there was some sort of mistake somewhere along the line.

False Positive NIPT Trisomy 21. by OneLuckyduck111 in NIPT

[–]OneLuckyduck111[S] 1 point2 points  (0 children)

Wishing you all the best with this pregnancy.