Nuchal fold 10.7 at 22 weeks :(

[Dua2016]

Hi had my 20 week scan where my babies nuchal fold was 7.3, they then referrd me to foetal medicine where they did another scan and nuchal fold had reached to 10.7mm at 22 weeks. I'm so worried. I have a genetic disorder however nuchal fold is nothing linked to it. The babies measurements of heart, head, kidney, face etc are all fine it's just this one nuchal measurement that is concerning! I now need to decide if I want to go with amnio test. The consultant said it could be what you have or it could be nothing! I'm so worried, major head ache and can't sleep any advise ? Thank you in advance x

Hi Dua
Firstly I am so sorry you are going through this, so upsetting and worrying. I have just been through this entire roller coaster (not the same markers but the same worrying decision to make about further tests) and unfortunately did not have a good outcome. I am happy to share everything that happened to me but might be too soon to read it and might worry you unnecessarily.
Personally I went for an amnio as I needed to know for sure and the results were available two days later so the wait whilst excruciating was relatively quick. You can also take a blood test privately to diagnose but in France where I live and I believe also in the Uk, you have to pay privately and wait 10 days for the result. It was too long for me to wait which is why I went for the amnio. Once I had the facts I felt I could make an informed decision about what to do next. For me, and it is very personal, it was preferable to not knowing. I was clear in my mind about what I would do if the results were not good so maybe you should think this through before going for more tests.
Someone else on another thread suggested you contact ARC. I highly recommend this too, they will help guide you through the decision process better than anyone. But they will not be open till Monday now so if in the meantime you need a sounding board feel free to message me. I am sure some of the other ladies with experience of this will be along soon too
Thinking of you
X

Hi Bays Water Sophie

Thank you for your response and advice. Please if you are okay with it share your full experience? I find it good to hear different sorts of experiences to get a open minded view of positives and negatives. Nothing's too soon, it's a part of our lives which we have to face and be strong for this baby as we are his/hers mama and papa xx

Sorry you are going through this.

That is a pretty high nt measurement, I didn't realise they looked at the nt after 14 weeks. If everything else looked OK on the scan I'd probably say it's unlikely to be a major chromosomal issue, there are usually lots of soft markers on the scan but 20 weeks.

What were your combined bloods like t 12 weeks?

I'd say you are probably better off having an amnio done. The rapid results are usually only for trisomies 13,18 and 21. You may need to wait longer for full karyotype.

Arc are brilliant and have much more knowledge than most of us on here.

Not at all. You can read my whole post which is the one about being scared about a high risk for Edward Syndrome (you'll find on the same board, 110 comments). But in a nutshell, I am 40, and I became pregnant with my third baby unexpectedly as my Doctor told me I was no longer fertile. I only realised 8 or so weeks in. No probs at 12 week scan, nuchal clarity fine. One month delay in getting bloods back which revealed a low risk for Downs but abnormally low levels of Papp A and hcg. I had a detailed scan at 18 weeks which showed no major issues other than a small for dates baby and one small cyst on the brain. The sonographer did not recommend an amnio and said she thought all was fine. In retrospect I knew something was wrong and booked further tests at a private hospital with a specialist fetal medicine team. I went more for reassurance but the consultant took one look at my file and had me on the couch for an amnio 15 minutes later as she suspected Trisomy 18. This is a very serious chromosomal abnormality generally believed to be incompatible with life. My husband and I knew that we would not continue with the pregnancy if the diagnosis was confirmed as this pathology is very serious. There are some who choose to continue with the pregnancy even with a confirmed diagnosis but this was not right for us. It is a hard decision and a personal choice. Two days later the diagnosis was confirmed which was devastating. I had the termination a week ago, a hard and sad experience which I am still trying to find my way through. I don't regret our decision but I cannot pretend that this has been easy and I miss my baby everyday. Sorry if this all sounds blunt but it sounded as if you wanted the facts. But this is just one story and for every bad diagnosis there are many good ones. If I can help you in anyway at this tough time I will as I know first hand how hard it is when you are told there is a possibility of something being wrong. Remember that it may all be fine and I do hope so for you. I really recommend speaking to ARC on Monday. The helpline opens at 10 am and they are so kind and helpful. But in the meantime, feel free to contact me if I can help

Generally high nuchal is related to either a. physical anomalies (such as spina bifida) b.genetic anomalies (not always trisomies) c. heart defects or is a random finding.

If you have no other soft markers, that is a reassuring sign. Have you had a detailed echo scan, which can confirm or deny any significant heart anomalies? Your consultant should refer you for this. The decision as to amnio is up to you. With no other soft markers pointing in a particular direction, my temptation would be to opt for one, partly because even if you are certain you would continue a pregnancy it is good to get plans in place. However you may or may not wish to take the small risk of amnio.

We were in the situation of a normal nuchal but with soft markers pointing in the direction of a chromosomal anomaly and it was not clear at all which one. We did opt for amnio (and are very glad we did) and it was straightforward. Trisomy 18 was confirmed and we chose to continue the pregnancy (Trisomy 18 is NOT incompatible with life by the way but is a severely life limiting disorder associated almost universally in its full form with profound physical and learning disabilities) We don't have regrets about option for amnio.

I do know of another family in your situation at the moment, who have chosen not to opt for amnio because they felt the risk was too high for them. Some more anomalies have shown up at later scans but they are waiting to see what happens at birth. At the moment it seems unlikely to be any of the major trisomies but there are problems. I also know a family in the situation of high nuchal but so far nothing else identified. A nuchal of 10mm though is 90% likely to point to an underlying problem, it is just how severe that problem is.

I wish you much luck in making these hard choices. I second the recommendation of ARC, have heard very good things about them. This is not a situation anyone wants to be in. I hope that even if there is a problem that it is on the milder end of the spectrum, if not there is lots of support here, whatever choices you make.

Disillusioned, I just wanted to apologise to you for my choice of words in describing T18. I was translating (too literally) what the French consultant said to me into English. I realise not accurate as a description and that these words don't reflect your experience. Please accept my apologies.

TheDisillusionedAnarchist

Thank you for your detailed experience, it has been very helpful!

Bayswatersophie

No need to apologise, I appreciate your advice and info.

I'm hoping all this is a scary nightmare :/

Sophie, no need to apologise. There is just a move to eliminate 'incompatible with life' as a phrase used to describe conditions like T18 as it is meaningless and leads to poor treatment of survivors (there is a really good paper called Lethal Language lethal decisions which explains why better than I can) hence I tend to jump on it at any opportunity but I know medics use it though thankfully are moving away to more description of the effects. Nobody could deny T18 is severely life limiting after all. I hope you're physically recovering from your experience and are resting and feeling better.

Op- hoping for you, you're in the 10% who have a good outcome with a high nuchal. I'd definitely push for an echo though.

OP, just checking in to see how you are doing. Have been thinking of you. Hope all is ok
X

@Dua2016 whatever came of this? I hope everything turned out well!

Thank you for asking. She turned out just fine with no issues at all which was a great relief. She is now 4.5. I since have had a boy who is now 1.5. Hope you and family are keeping well.

Thank you so much for asking. All is well with my daughter who is now 4.5. She had no issues at all! So thankful. I now have a 1.5 year old boy yoo. How time flies. Hope you and family are keeping safe and well x

@Dua2016 Amazing! Congratulations on your two children! I am 27 weeks and my baby’s nuchal fold measured 7.5 mm at 21 weeks. I have a low risk Harmony but have been worried about a false negative. This gives me hope!

Awww, Have faith, believe it will all be ok, regardless you will have a precious amazing baby either way. 27 weeks, wow not long now. Do keep us posted, fingers crossed for you. Look after yourself x

Thanks! I will update as we go! There were no cardiac issues found at 20 weeks but I’m going back for a fetal echocardiogram on Monday to double check! I hope all is well with baby’s heart!

Praying for you. Let us know how you get on Monday x

Completely normal fetal echocardiogram yesterday at 28 weeks, despite the increased nuchal fold measurement at 19 and 21 weeks. I'll meet with a geneticist today to get odds from here. I really don't want to pursue amnio, especially with a negative Harmony, but I also would like to know if I'm high risk for t21 so that Baby's birthday doesn't drop something super intense on me.

Really pleased for the normal reading yesterday. After speaking with the geneticist you will have a better idea of what to do. Remember to talk it through with family members too, you are not alone mama. Goodluck xx

Hi, We are in the same boat, 20 week ultrasound picked up thick nuchal fold, had a cardiac fetal echo and all looks good. Nipt was low risk so don’t know what to make of it. Waiting for a more detailed scan on Friday. So so stressful

Hey Mama. I was the same, the whole pregnancy! Only the nuchal result was high throughout pregnancy and was not showing any signs of decreasing. However the positive was that baby physically and internally was showing no signs of concern. All her readings, measurements were as 'normal' so to speak. Thankfully all worked out. I'm not sure up until this day why nuchal fold was high. Keep positive and goodluck with your detailed scan. Remember no matter what thats your baby and will be loved regardless x

I’m leaning toward getting an amniocentesis as the complication rates at the local hospital are low and I’m far enough along that the baby would survive, should the worst happen. Gonna talk it over with my midwife. I love this baby. I just don’t want to risk their birthday being about a diagnosis.

@B2021 How was your scan? How far along are you now?

My scan was good! Everything looks normal so far. Nipt was low risk so was advised against amnio. I’m 28 weeks now. Won’t relax until the baby is here but feeling a bit better about it now

The only other thing is my stomach is measuring large (and I’m not large) so 28 weeks but measuring 30 so maybe just a big baby?? I don’t know. Paranoid. The OB said since it’s my 3rd my belly is probably just stretched out differently. Did you end up doing the amnio? How are you now?

I’m 30 weeks along, haven’t opted for amnio. Just waiting it out!