nuchal translucency

katiechickie · September 2019

I got my first trimester ultrasound done and everything came back fine except for nuchal translucency measurement. First of all the technician was having a hard time trying to get the baby to flip so she could take the measurement, but she said she finally got it. The measurement was 3.6 mm. So my midwife called me and had a long convo about what this may or may not be. We are being referred to a genetics counselor on Monday where I will do the non invasive blood test. I'm freaking out

Anyone else been through this? i couldn't do the combined blood test the same day as the ultrasound because the lab was closed for labour day weekend (they also determined i was 13 weeks and 6 days which would've been the last day I could do it) I'm so overwhelmed and emotional I just want everything to turn out okay. It also takes a gruelling 10 business days to get the results :-/

chichiphin · September 2019

hi there - I'm sorry you're going through this. I went through this with my first pregnancy. I think you're doing everything you should be doing - NT measurement, followed by NIPT, and then speaking to a genetics counselor. A genetics counselor is the main thing I think you need, as they can accurately tell you what all the data means.

I would also ask for an additional ultrasound as well once you have the NIPT results and speak with the genetic counselor. My NT measurement unfortunately went up and other abnormalities were found at the second scan, making our decision more clear at that point.

It'll be a tough 10 days, so try and do things to keep yourself busy while waiting for those results. feel free to reach out with any questions you have.

katiechickie · September 2019

Do abnormalities not show up till later? everything else was looking great on the ultrasound. :-/

chichiphin · September 2019

@katiechickie some abnormalities cannot be seen at that gestational age. but other things can come up - like a cystic hygroma, or hydrops.

rklinge0 · September 2019

Just an fyi if it isn't chromosomal or genetic there could be a heart condition that may need to be followed up to see. Some of those can't be seen until after 22 weeks and can require a fetal echo. My daughter was born with 3 holes in her heart and none were picked up on regular ultrasounds nor mfm ones, she has a vsd which is common to not be picked up.
I chose not to do the nt scan with her but did it for my son for that reason.

katiechickie · September 2019

can anyone tell me what to expect from the genetics appointment? it's on Monday and my midwife said it can be overwhelming. I'm going to do the blood test and I also have to ask them how the results are received. Not sure if they give me a yes or no answer or if they give me what the chances are

katiechickie · September 2019

Also does anyone know what a normal nuchal translucency measurement is? thx

chichiphin · September 2019

@katiechickie I know your appt is today - it is overwhelming. they won't and can't give you a yes/no. it is statistical/risk-based. the only yes/no comes from an amniocentesis, which I'm sure your genetic counselor will tell you.

katiechickie · September 2019

Well, it was a lot of information 🤯 We decided to go with the non invasive blood test and I am to do an echocardiogram and an anatomy scan around 18 weeks. The blood test will also tell us the gender so we are patiently awaiting results.. (up to 2 weeks) thank you everyone for your support!

Malidocious · September 2019

@katiechickie Good luck!!

I'm sure it feels overwhelming right now, but try to relax.

omiswheretheheartis · September 2019

I am in the EXACT same boat! My mind is racing.
My doctor called me Monday to inform me the NT measured 3.8 - which may or may not mean genetic or anatomical abnormalities. I’ve been referred to a genetic counsellor on the 16th (14 weeks) and will be completing the NIPT test.

Waiting is so difficult and I’m trying to keep buys but my mind (and emotions) are just racing.

Can you share with me what your experience was like with the counsellor? What sorts of things did they cover?

My doctor has referred me on the basis of the NT measurement only - as the bloodwork results weren’t yet available so I am praying this is just a super precautionary step...for both of us! Monday seems like an eternity away.... and then to wait for the NIPT results on top of that. Sending you strength! 💗

katiechickie · September 2019

I'm hoping it is super precautionary on my part too. everyone is telling me it's just a precaution but I cant help but worry and stress. I'll be blatantly honest, the genetics appt was overwhelming. My hubby turned white as a ghost. they go over all the different chromosome disorders and possible outcomes and they give you a basic run down of what chromosomes do. It was about an hour. The Amnio will check for more defects then the bloodwork does but I chose not to do it (I just did bloodwork). Bloodwork checks for Down Syndrome and 2 other pretty severe ones. Results are either high risk (99/100) or low risk (1/500) And the waiting is killing me. she did say that 20 % of high nuchal measurements result in some sort of defect. I'm also going for an echocardiogram at 18 weeks because the nuchal can pick up on heart defects too. Again this is all precautionary. 3.6 mm or 3.8 mm is not that much above what the preferred measurements are. Hang in there!

katiechickie · September 2019

Results came back as low risk, and I'm having a baby girl! 🎉

Malidocious · September 2019

@katiechickie That's great news! Congratulations!

saladflambe · September 2019

Congratulations!

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