High risk NIPT for mosaic T21 - suspected CPM diagnosis
I just wanted to share our story as this community has been such a good source of information for my husband and I during the gruelling last few weeks of being in limbo. Timeline broken out below.
12 + 3 - I received a phone call from my midwife that my NIPT had come back high risk for T21 suggestive of mosaicism. In her 30 years as a midwife, she has not seen this before but explained that essentially the odds were 50/50 whether this was a case of confined placental mosaicism or if the baby would have T21. We had a video call with a genetic counsellor that same day which was funded through the NIPT provider. My husband and I decided that if the diagnosis was positive for T21, we would not continue with the pregnancy.
15 + 3 - We had our appointment with maternal fetal medicine after what must have been the hardest 3 weeks of our life. The wait was truly horrific and I was convinced we would be TFMR due to a positive diagnosis. The team were lovely, we had an in-depth early anatomy scan where no structural signs of T21 were seen. I then had an amnio performed which wasn't super fun but I think this was primarily due to the mental side of what is physically happening to you rather than the physical aspect itself. I had the rest of the day off work and took it easy for the next 48 hours with no lifting my toddler etc.
15 + 4 - MFM called to let me know that the QF-PCR (FISH is not performed where we live) was negative but as this only detects mosaic cells from around 25% was a reassuring result but nowhere near conclusive. We were advised that the full results from the microarray would be 2-3 weeks.
17 + 3 - MFM called again to advise that the microarray had also returned a negative result for any abnormalities. This particular lab states that the test is accurate to a level of 10% but we obviously just need to take this at face value and we will now treat the remainder of the pregnancy like I have CPM. I will have fortnightly growth scans from 28 weeks where if growth is impacted to a level they believe it is a risk, they will induce labour early.
We have been given the option of testing babies cord blood at birth which we are undecided on due to not being able to do delayed cord clamping and I'm also not sure I want another lot of pending results hanging over my head in early post partum when the chances are so slim. We will discuss this with our care team further as we head along though.
I just wanted to share my story as I was desperate for more stories of a result like mine resulting in CPM (although because I didn't have a CVS it still could have been a false positive). I'm so grateful for all the stories, personal experiences and knowledge shared here and am excited to start celebrating this much wanted pregnancy again <3