Hi everyone,
I'm currently pregnant and recently received my Panorama NIPT Full Panel results. I had my blood taken at 11 weeks + 1 day, and my fetal fraction was only 3.3%.
Thankfully, my results came back low risk for Trisomy 21, 18 and 13, Monosomy X and Triploidy , which is reassuring.
However, I'm quite worried about the microdeletion results, especially as I paid £499 for the full panel.
My results were:
- 22q11.2 deletion syndrome: Low Risk, but only the paternal allele was evaluated due to my low fetal fraction.
- 1p36 deletion syndrome: Low Risk, but only the paternal allele was evaluated.
- Cri-du-chat syndrome: Low Risk, but only the paternal allele was evaluated.
- Prader-Willi syndrome: Low Risk.
- Angelman syndrome: Risk Unchanged, as my fetal fraction was below the 7% threshold required for assessment.
I'm a little confused about how some of these conditions can be reported as "Low Risk" when only the paternal allele was assessed.
I understand that these conditions are rare and that NIPT is only a screening test, but I'm feeling quite anxious about the limitations of my results.
Has anyone experienced something similar with Panorama?
Did you have a repeat blood test, and if so, did your fetal fraction increase enough to get a more complete result?
I'd also be interested to know whether anyone has spoken to Natera or a genetic counsellor about what these limited results actually mean.
I'd really appreciate hearing about your experiences.
Thank you!