4.0 mm NT and 1 in 2 risk for Down - there’s hope!

[swskehwmbewagor61]

Let me open this by saying I’m a FTM 19 weeks, healthcare professional, and a VERY anxious person at baseline.

At my 12-week NT ultrasound appointment my ultrasound tech was very quiet. I noticed it but attributed it to her not being allowed to say anything to patients so I tried to put it out of my mind. My GP (I was still looking for an OB then) called me on Christmas Day and told me that my NT measured 4.0 mm and 2 of the 4 hormones on the MSS were abnormal. I had a risk of 1 in 2 of my baby having Down syndrome (normally the risk is 1 in 700).

Obviously I broke down.

The waiting game was killing me. From Dec 25, the day of the news, to Feb 4, the day I finally got the last of my results which I’ll discuss, I waited. It seemed like an eternity.

So first, I found an OB (on my 3rd try). He ended up, coincidentally, being a MFM specialist so I didn’t have to go to 2 separate physicians.

Then, I did the NIPT, the results of which took 2 weeks to come back. In the meantime I did an early anatomy scan, which showed that the fetus’ nuchal fold regressed from 4.0 to 2.2 mm. How is that possible? There was no explanation for that. “Sometimes it just happens”. Maybe it was human factor and the previous tech measured it wrong or who knows what, but I decided that I need to continue investigating because “who knows” is not a good enough explanation for me. While I waited for the NIPT results, I was offered an amniocentesis, which initially I was wary of getting because of its 1% risk of miscarriage. However, the doctor explained to me that old-school amnio, where they tap on the belly to guess the baby’s position carries this 1% risk, whereas now they use ultrasound guided amnio, which reduces the risk of miscarriage to 0.3%. Besides, to me personally, a 0.3% risk of miscarriage sounded minuscule in comparison to a 50% risk of Down syndrome (and I understand this is totally personal and individual choice - for those for whom the decision to keep or abort would not change, even a 0.3% chance can sound huge and I respect that).

So I opted for the amnio. It was uncomfortable and I actually had to be poked twice because the first time he couldn’t penetrate through my uterine wall but the second time was successful and he extracted 30 cc of amniotic fluid without a problem. I had no side effects (no cramping/spotting/etc.). I took it easy for the next 3 days (no sex or exercise; technically it should be 2 days but my anxiety forced me to take extra precaution). The reason I decided to go for the amnio is because the NIPT only tests for the trisomies and sex chromosome-related disorders. If they came back negative, I would continue to wonder and be anxious about what else could it be so I decided to do amnio to test ALL chromosome pairs.

2 days later I got the NIPT results - everything was great and my baby’s chance for Down went from 1 in 2 to

 

[bhaskar]

@swskehwmbewagor61 Cool, thanks for sharing. I'm really worried about that stuff and we agreed to terminate it if downs or something serious shows up, but I'm nervous about how far along I would be at that point after getting an answer...

 

[katrina2017]

@bhaskar Could you get a NIPT? I just had a downs scare after 21 weeks and, after waiting for answers, would have had to TFMR at 24 weeks. I'm pro-choice, but this is not a choice I would have ever knowingly put myself through - it would have destroyed me. I did the NIPT and it came back 1/ 10 000 thankfully, BUT we have agreed for our second we will do the NIPT as soon as possible to avoid going through this again.

 

[bhaskar]

@katrina2017 I don't really know what any of that means yet but I'll start looking into it, thank you. Glad it worked out for you guys as well. I have a first 'genetic counseling' appt next week and then I think blood testing and ultrasound at ~12 weeks in March. I do want to stay ahead of it though and take them up on any testing even if it means paying out of pocket.

 

[katrina2017]

@bhaskar NIPT stands for non invasive prenatal testing, it's as accurate as you can get without an amnio. It's not really standard here in Canada, so we had to ask for it and paid out of pocket. I think it's more common in the US - definitely worth asking your doctor about!

 

[havevisions]

@katrina2017 Just to be clear here: NIPT is a screen, NOT a diagnostic test. It can asses your risk, but you will only know for sure if you have a CVS or an amnio.

 

[katrina2017]

@havevisions For sure. Interestingly enough all of my doctors were a lot more confident in the results of the NIPT than people on reddit seem to be. It did reset my chances to 1/10 000 and to me that wasn't worth risking the more likely chance of a miscarriage with an amnio.

 

[apolloman87]

@katrina2017 Miscarriage with amnio the way it is performed now is essentially the same as the risk of miscarriage is in the early 2nd trimester (usually when performed) anyway, just an FYI. We see that it carries a potential risk but in reality, the info is outdated and the actual science and numbers show there isn't an increased risk, per say.

 

[acks1661]

@katrina2017 You can be quite confident if the screening is negative/low risk. However, it's not diagnostic and in case of a high risk result you'd always have to follow up with a diagnostic test and one would never tfmr based on nipt alone, which is probably why "people on reddit seem to be" not confident. I think people are just pointing it out.

 

[havevisions]

@katrina2017 I mean, it’s very accurate, but I think it’s important for people to understand the difference between screening and diagnostic. If I didn’t have two genetic issues, I’d have gone with the NIPT and been fine with just that.

 

[leeannebuwa]

@bhaskar I had the same issue with my testing. The lab my office used LOST my blood sample and I was almost 15 weeks by the time I got my results. The testing on the fetus came back normal but my genetic screen flagged me as a carrier. My husband had to get screened then and waiting for those results took another 2 weeks!

 

[bhaskar]

@leeannebuwa Jeez yeah nerve-wracking, sorry for that experience. I'm glad it worked out, seems to be a fair amount of those relief stories which is hopeful.

 

[swskehwmbewagor61]

@leeannebuwa The waiting is the worst! I’m glad your baby’s testing came back normal!

 

[swskehwmbewagor61]

@bhaskar I truly hope nothing serious shows up! I’m not sure where you’re from but in Canada for example, abortions can be done up to 25 weeks gestation in some places. Again, I hope it doesn’t come to it!! All the best to you and your baby!

 

[bhaskar]

@swskehwmbewagor61 Thank you, yeah at that point gosh what a nightmare idk what we would do. I think it may be 20 or something here in California (not going to look it up rn sorry), which is still a big deal. Here's to just staying healthy and hoping for the best.

 

[havevisions]

@bhaskar I’m in the same place. I have a genetic abnormality and am a carrier for spinal muscle atrophy, and both things can be fatal in the first year of life(depending on the type of SMA). I have a CVS in about a week and a half and we’ve already discussed that we would terminate if either condition was present, but oh man, the feelings. I miscarried in July and have had a rough first trimester so far, and the thought of having to start all over is so, so tough. You’re not alone!!

(Also, I love your username.)

 

[katrina2017]

@swskehwmbewagor61 I'm so glad it worked out for you, my odds were only 1/189, so not quite the same but still stressful. I'm going to write out a whole post on my situation too, for people in the future looking for info. I had no nasal bone found at 21 weeks which is a major soft marker for downs. I had the NIPT and it came back as 1/ 10 000. After facing a potential termination at 24 weeks, which would have destroyed me, I am a huge advocate that knowledge is power. I had to pay out of pocket for the NIPT here in Canada, but we are absolutely going to do it at 10 weeks with our second. I can't imagine how devastating it would be to terminate so late, so I totally think anyone who can afford to should do the NIPT.

 

[thewindsbreath]

@katrina2017 The no nasal bone was found on our 21 week as well. My midwife basically told me not to worry because of our NIPT results, but obviously still worrying. Good to hear it wasn’t the case for you.

 

[katrina2017]

@thewindsbreath You too! Nipt early on is totally the way to go - would have saved us two weeks of anxiety.

 

[swskehwmbewagor61]

@katrina2017 I’m sorry to hear that you went through the same stress but I’m glad that it turned out ok! We had the nasal bone on our 12-week NT scan. Out of curiosity, is 1/189 risk not considered high risk? Because then you should’ve been offered the NIPT for free. But I agree, I will get the NIPT with my next even if I’m low risk next time. It’s worth the money in my opinion.