u/Big_Mix3551

Abnormal NIPT results 7q deletion with fibroid
▲ 1 r/NIPT

Abnormal NIPT results 7q deletion with fibroid

Hi everyone,

We recently received a positive NIPT result for a chromosome 7q deletion and honestly we are terrified and confused.

So far, every ultrasound has been normal, including the 12-week scan. No structural abnormalities have been seen and growth is on track. My partner also has a fibroid (5cm which has grown to 6.7 over the 1st trimester), which made us start researching possible causes of false positives.

We found this paper: https://pmc.ncbi.nlm.nih.gov/articles/PMC11155570/

Reading it gave us some hope, especially because it discusses how fibroids may sometimes give false positive NIPT results being the 7q deletion the most common false positive if this type.

Our doctors still cannot tell whether the signal comes from the baby, placenta, maternal DNA, or potentially the fibroid itself.

What makes this harder is that we were actually planning to announce the pregnancy to family and friends this weekend after the good 12-week scan as we fly back home. Instead, everything suddenly feels incredibly bittersweet.

Has anyone here experienced:

-a false positive for a rare deletion (especially 7q)?

-normal ultrasounds despite a scary NIPT result?

-fibroids affecting NIPT?

We are waiting for further testing and trying to stay calm, but this uncertainty is incredibly hard.

Thank you so much.

u/Big_Mix3551 — 5 days ago