An increased NT measurement but negative Harmony result?

[coffeeanddogs]

I'm pregnant with my first child and we had a scary scan where we were told that the baby's NT measurement was in the 95th-99th percentile and that the baby was high risk for Down's Syndrome or some other chromosomal abnormality.

The Harmony test result came back negative, but I still don't feel reassured because apparently the NT measurement can signify other abnormalities.

I found this from a research paper:

"There is growing evidence that increased NT thickness during the first trimester of pregnancy in a chromosomally normal fetus is associated with numerous fetal structural abnormalities, genetic syndromes, heart defects, and poor perinatal outcomes such as miscarriage and intrauterine death."

I'm terrified and still sick with worry. Has anyone else had this kind of result - and do you mind sharing what the outcome was? Or what steps you took?

This was the research article:

www.ncbi.nlm.nih.gov/pmc/articles/PMC4746871/#ref5

thank you thank you thank you

I think the harmony only tests for a few things so it could be that it hasn't picked up the indicator needed for another chromosomal abnormality. Or it could be that baby is healthy.

What was your measurement?

My friend measured 6.6 on her nt tests, she had an amniocentisis which was clear for downs, Edwards and pateaus (sp?) But did come back with a chromosome issue.

I am sure the midwives can help you if you want further testing.

Hi OP,

I'm sorry you are going through this worry. I remember it well as my DD's measurement at 12 weeks was 4.1mm. The chances of problems are lower the closer to normal the measurement though, and it's very reassuring your baby's measurement it is within normal range even at the upper end. Also, once the more usual problems are ruled out like the three main trisomies, the chances of a problem drop dramatically even for an abnormal measurement.

We had a CVS microarray to check for chromosomal anomalies (which is similar to Harmony in that it uses placental DNA but it is invasive) and that was normal. The most common chromosome conditions are covered by Harmony though. Neither NIPT nor CVS/amnio can detect other genetic conditions beyond chromosome anomalies, unless there is a known genetic condition in the family they are looking for as otherwise it would be like a needle in a million haystacks.

We then had a fetal heart scan and two detailed anomaly scans which were all normal and were consultant led but otherwise pregnancy and delivery were completely normal. I did worry throughout my pregnancy because like you I'd found that it is linked with other problems causing the increased measurement. I must have read every thread on the internet about it and I found lots of people who'd said their children had high measurements but were born completely healthy, and I found a few where there was a problem although usually it was something treatable.

When our DD was a few weeks old we realised she does have a rare and fairly severe structural problem and she will need surgery in the next couple of years but our surgeon is very optimistic about the surgery and that she won't be affected by it long term. But honestly, she is a totally normal and wonderful toddler! She hit all her milestones early, she is such a bright, happy and active little thing and people are astonished if we tell them as you'd never know there was anything wrong to look at her. She's our world and we are so so happy to have her and couldn't imagine anything else.

You might feel a bit mixed about this because of course you want your DC to be totally healthy and the chances are that they will be (upper centile is not outside the normal range after all) but I wanted to tell you that even if there was something, it may not affect them long term.

Please feel free to PM me if you have any questions.

One thing I found really hard was people constantly telling me not to worry and that I was anxious because I was a first time mum (the same happened when I realised there was something wrong with DD, and even now when I try to discuss worries about various treatment options) and it's so frustrating being dismissed without being heard! I'm sure people think they are being helpful and reassuring but if they are just dismissive it's worse than unhelpful I find. So I'm happy to talk if you'd ever like to!

oh thank you so much for replying @nuchalQuestion - yes exactly, everyone keeps telling me not to worry but how can you not when there is evidence that it signifies something is wrong?

I'm glad to hear your daughter is bright and healthy and that the surgery will hopefully help her and there will be no long term problems. That's so great to hear and must be so good for you to know.

May I ask if your fetal heart scan was a "fetal echocardiography" scan or just a detailed normal scan where they focused on the heart?

And did you go private or did NHS do it?

NHS was so full (and I registered so late) that they couldn't fit me in for my 11-14 week scan at my hospital - and I'm sure you've read too that 11-14 weeks is the only time you can accurately measure the nuchal translucency - and so we had our scan privately, which is when we got the scary news.

I'm not sure if I tell my midwife the news/ show her the report if they will schedule the fetal heart scan, or if it's just better to pay more and go private in this case if it means possibly getting a better scan. (I could be totally wrong about private being better than NHS, but would love to know your experience)

thank you again x

It was a fetal echocardiogram and we had it on the NHS at the Evelina.

We actually first got our measurement at a private scan preceding the Harmony test because we'd decided to pay for it before I'd got pregnant as a reassurance. We never imagined we'd get a measurement that would indicate it, if you see what I mean. So we had the Harmony test while we were there, but actually I wish I'd waited until our NHS scan later that week because it turns out they'd have done Harmony for us - and in any event it was pointless in the end because we decided to go ahead with CVS which was also on the NHS (although of course in your case they didn't have the appointment available for you to wait for!) They were very good for us.

Have they offered you a dating scan date even if outside that window? Or, when is your next midwife appointment? I think when they know the measurement that should kick start the further investigation process on the NHS although I guess it depends on where you are. I think fetal ECGs are only offered at specialist children's hospitals so I don't think you would be getting a better service going private, but as your baby's measurement is within normal parameters they may not refer you for it on the NHS. Our's dropped to 3.8 later in the week but we were still referred as over 3.5.

If you do decide to go private I have heard that the Fetal Medicine Centre is very good although I don't know if they have the technology for a fetal ECG. Evelina do have a private component although I'm not sure for what things. I understand you wanting to get this checked and I think I would again if we were in same position (as my DD's condition can go hand in hand with heart defects, although happily not in her case) although I regret that my DD had a lot of scans thereafter because although ultrasound seems extremely safe there are theoretical questions over a large number of high frequency scans.

Once she was born we did have to go private for her diagnosis (actually I paid for three consultations before we found our surgeon who agreed with what we were seeing) and she was then referred on the NHS for imaging which confirmed it. The NHS are great now she's in the system but it was difficult at first because the community paediatricians felt nothing was wrong (our GP however was fantastic). I do understand their hesitance to image children unnecessarily but in our case it was very evident to us what the problem was. I suppose all this is a tangent though!

She's helping me with dinner now after a busy day at playgroup, soft play and dog walking.

ah okay - our measurement was actually 3.5mm so not sure what they will say. We have our first scan with the NHS tomorrow - I will let you know what happens, if that's okay?

Thank you so much for this, I haven't been able to talk to anyone else who understands this particular uncertainty.

That must have been so frustrating to know something was wrong and have to keep trying to get other people to believe you. It does show that we do often have to do our own research or trust what we think/ can see even when doctors tell us otherwise.

At our 20 week scan we were told our boy had a high nuchal fold at 7.3mm and was offered the amnio to check for any chromosome abnormalities. We decided to have the Harmony test instead as we didn't want the risk of the amnio. The NIPT test came back clear and the scan showed no abnormalities to baby's heart and growth etc so all signs are looking good which was a huge relief. I'm now 31 weeks and have had no further scares but we are being consultant led just to keep an eye on everything. Although everything is looking in our favour I am still terrified and it's still in the back of my mind, but we'll see when he's here :) I know what a horrible and lonely time this is full of uncertainty and I wouldn't wish it on anyone. If you need anybody to talk to please feel free to messaged me privately xxx

@coffeeanddogs please do let me know what they say, I'll be thinking of you. Like @scorp94 says it's a horrible and lonely feeling and I wish nobody had to go through it. You may find the measurement has dropped a little and they aren't too concerned, especially as it is still considered normal, but be aware that if it looks high the sonographer may not say much and may ask the midwife or consultant (I can't remember who it was) to discuss it with you so don't panic if that's what happens. They took me into the quiet room but looked really relieved when I explained I already knew because of the private scan.

@scorp94 sorry you've had this worry too but great to hear that everything has come back normal

One thing to keep in mind is that the odds are very much in your favour especially with normal findings on tests (for both of you). I agree that the research does show a statistically higher risk of other problems increasing with the measurement (for the 12 week Michal translucency scan anyway, I'm not sure about the nuchal fold at 20 weeks) which increases with the measurement but remember it's still unusual at the lower end of the scale. Reading the array of conditions linked is frightening but every pregnancy has a background risk of defects and so if you were to follow any large number of pregnant women you would sadly find a variety of problems, regardless of NT measurement. And on threads like these you might read about people saying their baby did have a problem (like me I suppose) but again that's biased by the topic in question.

I went for the scan today and explained the situation to the sonographer. She measured the nuchal translucency to be 3.1, but I'm also at 14 weeks, 4 days - so it's not as valid as I think that's when the NT starts to naturally decrease...

As I seemed freaked out by the 3.5mm reading we had privately, we now have an appointment and a scan with an NHS consultant on Friday and they've said amniocentesis might be the next step (if we want it). Which I think we might - @nuchalquestion - did you pick CVS over amnio for any particular reason or is that what they recommended for you?

@scorp94 i hadn't even realised that the measure the nuchal fold at 20 weeks - it does feel like we have to basically get a medical degree as we go through pregnancy to understand everything. fingers crossed everything goes okay for you.

I'm glad to hear it's dropped OP although understand what you are saying about timing. I'm really pleased they listened to you as well and you will still have the option to discuss it with a consultant.

We picked CVS purely because they mentioned it, and at that stage of pregnancy (12 weeks) it was too early for amnio and we wanted to know as soon as possible I guess. The risk of miscarriage was more or less equal at our hospital for both procedures, but still very low.

However, I think amnio is slightly preferable because there's even less risk of false results, which are extremely rare anyway. Both procedures are considered diagnostic but because CVS uses placental cells there's the possibility of them being different from the fetus (as in placental or fetal mosaicism) whereas I believe the amniocentesis uses fetal DNA from amniotic fluid.

From what I read afterwards (because I was so worried I couldn't believe our results were really ok) I think I'd prefer an amnio in the future but we never discussed that with the consultant so they may be able to explain the pros and cons better.

ah okay, that makes sense @NuchalQuestion.

I have a feeling we just won't know more until amnio (and it's too early to do that) and until after the 18-20 week scan / FEG as the baby is just too small to see these things yet....so another 4-5 weeks to wait...

I'm sorry you're going through this.
My story isn't a positive one but I'll share it anyway.

Our little boy had a nuchal of 5.3 and we had the NIPT which came back normal.
Scans were all looking good. Except for a slight something they thought might be on the heart. Thankfully we had an amnio because our little one was very poorly with a really rare genetic condition. We likely wouldn't have known how bad it was until he was born had we not had the amnio.

I wish you all the best, message if you have any questions x

@Treaclepie19 - thank you for sharing that story - i'm so sorry, that sounds so difficult.

i wish you the best, too x

Thank you @coffeeanddogs.
It has been the worst thing I've been through but, I'm doing okay. My 4yo gets me through and I'm now pregnant again.

Will be thinking of you x

Update, but still no news. I had an amniocentesis and they have said they do not think the baby has Down's Syndrome or trisomy 18 and trisomy 13.

They told me it would take 10 working days, or 14 days to get the microarray results - the extra test for other abnormalties that could be related to the baby's high NT measurement.

It's been 16 days. I keep calling the hospital and they don't know why results from the lab aren't in yet. They aren't getting a response when they chase them. Needless to say, I'm panicking - esp bc often they don't do the microarray test and THEY decide at the lab if they want to test you or not.

I'm afraid they didn't do the second test, which is the real reason we did the amnio. I had cramps after the amnio and was so upset and scared that I'd hurt the baby - and now I can't believe that I might have done it and won't even get the test results.

Sorry for the rant, but feel so helpless. I keep calling the midwives, they keep saying there's no news.

Has anyone else had to wait this long? I think the lab at St Thomas is doing the test...

Does having to wait for a result usually mean the news is bad?

Will update when I hear more.

I had the quad test which came back high risk. Unfortunately at my 12 week scan they weren’t able to get the NT measurements due to the baby not being in the correct position. We paid yesterday to have the harmony test so hoping everything comes back ok. Has anyone else had anything similar? X

Hello

I had my 12 week scan yesterday. As I was leaving she mentioned one picture showed a higher nt of 3.5 so would have to refer me for further tests. I’m waiting on my blood results now before another scan with Fetal medicine. I’m worried sick!!! Has anyone else had experience with this please? X

Hi there,
I am currently pregnant with my 2nd. Last week I had the Nuchal Translucency scan done and was told that I’m borderline. I also had some blood work done.
Since I’m wrecking my brain over the results, can someone please reassure me that maybe I have nothing to worry about.
I also booked the harmony scan to be done as I am really worried sick.
I’m 35 years old. My results are
2.8mm
Free b-hcg 66.7IU/ equivalent to 1.939MoM
PAPP-A. 1.874 IU/I equivalent to 0.548 Mom
Would appreciate any kind of guidance.
Thanks

@Happydays0109 sorry to hear your concerns. Did they give you a risk result ?

Like -1/1000 ?

Thanks for reaching out.
Basically my DR said my chance for D/S is O.5% he said some might be concerned and some might not.

Just adding to the post.

My 12 week scan nt measurement showed 4mm. Combined bloods came back low risk at 1/359 but i had booked harmony while awaiting results due to the high nt. Harmony results all cake back clear at 1/10,000.
We also had 2 scans with a consultant to check babies heart, brain and overall growths checks that eveything was as it should be at 16 and 20 weeks. We were told nt had resolved at the 16 week scan with consultant and everything looked as should be with absolutely no concerns. Consultant told us to put any worries out our heads and to enjoy the rest of the pregnancy. I am 22 weeks now and have no further scans or checks now unless noted further down the line as would normally happen.

@Happydays0109 obviously I’m not medically trained but apart from your hcg being slightly high all your results look really normal ?

A 0.5% chance is tiny. Try and remain positive until your Harmony results. They are pretty conclusive.

Also NHS would have offered further testing had you shown markers (PAPP - Being lower than 0.4 / NT over 3.5mm etc )

I think how baby is laying/moving at the time of scan can be an issue with this measurement. When I was scanned with our twins the higher of the 2 had a bad result on the scan but bloods done at the same time put us low risk so no further testing advised. She's a perfectly healthy 5 year old now. I do worry that I may get not so good results with current pregnancy but will deal with it if it comes.

I really appreciate your response. I really am trying to stay calm but my thoughts still go there.
Thanks

@Happydays0109. Sorry I didn’t mean to come across flippant. Every time you worry try and remind yourself there is a 99.5% chance everything is okay.