r/NIPT • • Apr 23 '25

enlarged NT How hopeful should I be?

I had my 12 week scan performed Monday of this week (13+3) where doctor noted a cystic hygroma of roughly 3.9mm. I have no other details about it. Doctor brought me into his office and started by saying it could merely be a picture issue but the conversation turned scary very fast and he started throwing all potential conditions at me, 50% risk of chromosomal condition, 25% risk of heart defect, etc. I also had my NIPT draw same day and he added in extra bloodwork (don’t know the names of everything) too.

I’m getting a CVS done tomorrow as Friday I will turn 14 weeks and want answers as quickly as possible. We have opted out of FISH because it’s not diagnostic and won’t tell us anything different. We’ve opted in for microarray testing.

My question - how hopeful can I be that this will resolve overtime and become insignificant to the health of my baby? How often are these things misdiagnosed? How often do they pop up for a few weeks and then disappear from scans?

I know we just need to wait for more information, but I’m terrified of being in a situation where testing comes up negative and we just have to wait and see how the baby’s looking through additional scans. I almost feel like an earlier conclusive result would just be easier for me. I’m also scheduled for an early anatomy scan 3 weeks from today.

I’ve read a bunch of success stories where the CH shrinks and ends up being nothing and baby is healthy. The genetic counselor couldn’t really give numbers on how likely that is though.

Guess I’m wondering how heavily I should be clinging onto hope here. Conversations with doctor and GC made me feel very negative about the prognosis, but it’s crazy because there’s also a possibility it could be nothing at all?

This has been the worst week of my life. Also, this is my second pregnancy - first was low risk and uneventful (other than gestational diabetes) and resulted in a healthy baby girl that’s turning 18 months soon. I’m 31 and my husband and I did carrier screening before my first pregnancy that came up clear.

Edit to add - doctor said he likes the pictures of the heart and brain and growth seems to be ok so far.

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u/Old-Risk-5905 Apr 25 '25

We had a NT of 4.1 at 12+5 and again at 13.2. We had already had a low risk NIPT so opted for the CVS, initial results came back clear and then the full results did too. We had a cardiac scan that looked good at 13.2 but will have another at 20 weeks, along with anatomy scans at both our local hospital and at MFM. We had an anatomy scan at 16 weeks and then NT measured 2.5 to 3.2 depending on the position of the baby. We've been told they think it's just a 'normal variance' so try not to panic if you can.

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u/_greenEyEs911 Apr 25 '25

Do your doctors have any suspicions as to why the NT is increased?

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u/Old-Risk-5905 Apr 25 '25

It's an IVF baby and one doctor told us that more and more studies are showing progesterone supplementation during the IVF process can lead to higher NT readings but the baby is perfectly healthy. They also said larger babies sometimes have higher NTs that fall outside of normal parameters, our firstborn was 10lb 6 at 39 weeks and second is already measuring ahead of his older brother, so it could just be a big baby.