u/Bofosh093

▲ 8 r/NIPT

Positive NIPT for T18 (25.7% PPV) + NT 6mm at 12w3d — is there still reason to hope?

I’m at a complete loss for words right now, and I’m hoping to hear from people who have been through something similar.
My husband and I have been trying for a baby for 8 years, and I finally became pregnant this June. This baby is so incredibly wanted and loved already. Everything had been going well until this past Friday, when we received our NIPT results showing positive for Trisomy 18, with a reported PPV of 25.7% and a fetal fraction of 16%.
I was completely uneducated about T18 before this, and after reading about it, I genuinely felt like my entire world ended. I immediately called my OB’s office because I wanted an NT ultrasound as soon as possible.
Getting that ultrasound scheduled was an absolute nightmare.
My OB’s office has multiple locations, and I told them I would drive anywhere in Arizona to get seen. They eventually got me an appointment about an hour from home, only to text me and cancel because the provider called out sick.
I called back and pleaded with them to find me anywhere else. They scheduled me at another location an hour away. On Saturday, two hours before my appointment, they called and told me there wasn’t an NT ultrasound tech at that location.
At that point I was completely overwhelmed and honestly felt like I had to explain to the scheduling department that there was a real person on the other end of these cancellations who had just been told her baby might have a fatal condition. I told them again that I would drive anywhere.
Eventually, they sent me back to the original location. When I explained that the doctor was the one who was out, not necessarily the ultrasound tech, they suggested doing a televisit with the doctor after the ultrasound.
So we finally had the ultrasound.
Unfortunately, the experience itself was awful. The tech had very poor bedside manner, the ultrasound was physically painful, and she was very rough on my stomach. They were also having technical issues when I arrived, so she couldn’t access my chart or previous history.
At the end, she told us that the baby was measuring differently in different areas — some measurements were ahead and some behind.
We went to the car and started the televisit with the doctor. She told us that the ultrasound showed an NT measurement of 6 mm and that the baby was measuring approximately a week behind in some measurements. The ultrasound tech also documented that she couldn’t identify the nasal bone.
I’m currently 33 years old and 12w3d pregnant.
I don’t even know how to describe the devastation. This baby took us eight years to conceive, and now I’m sitting here wondering if I’m going to lose the baby I’ve wanted for so long.
Before the ultrasound, I was trying desperately to focus on the fact that my NIPT’s PPV was only 25.7% — meaning there was still a significant chance the NIPT was a false positive. I was holding onto that 3-in-4 chance with everything I had.
But after hearing about the 6 mm NT, the baby measuring behind, and the absent nasal bone, I’m terrified.
I’m seeing an MFM next and I know that NIPT is a screening test, not a diagnosis, and that we ultimately need amniocentesis to know for sure. We will not be making any decisions based solely on the NIPT.
But I need some perspective while I wait.
For those who have been through something similar:
Is there still reasonable hope that my baby could be chromosomally normal?
Could the poor ultrasound experience/technician have affected the NT measurement or other findings?
Has anyone had a positive T18 NIPT and concerning ultrasound findings that ultimately turned out to be a healthy baby?
What should I be mentally preparing myself for while we wait for the MFM and diagnostic testing?
I know nobody here can tell me whether my baby has T18, and I’m not looking for false reassurance. I just desperately need to know whether there is still something realistic to hope for.
This baby is so wanted and so loved.

Ps. Sorry for the book. I am just at such a loss and need to get this off my heart.

reddit.com
u/Bofosh093 — 3 days ago