Nuchal fold measuring 4.1 at 13+4 weeks.

[Claudius123]

So I had my 12 week scan yesterday, I'm actually 13+4 but that was the earliest they could fit me in. The nuchal fold is 4.1 and they're sending me for blood screening and Nother scan next week. I'm devastated. I suffered a miscarriage right before this pregnancy too. They suggested down syndrome or other chromosomal defects. Does anyone have similar stories. Negative or positive? I'm considering the nipt private testing.

[Cannyhandleit]

My first babies my measurement was 3.5, I actually think it was higher but they took 3 measurements and went with the middle one. We had had 2 previous miscarriages and I was heartbroken! I wanted to have an amnio but the day before we were to meet with the consultant I started bleeding! We made the decision that if when they scanned me and there was still a baby then we wouldn't have any invasive testing as we didn't want to add any more risk into the equation! We were given a 1:5 chance of downs.
I was classed as a high risk pregnancy and had most of my appointments at the hospital as I was consultant led but the rest of my pregnancy was pretty smooth sailing.
My baby was born 10 days late via emcs after a failed induction. He does have Down's syndrome.
He is now 4.5 and attends mainstream nursery. He was crawling by 1, walking by 2. He does have a development delay but it's not huge, he struggles with speech at the moment but he is very good at making himself understood. He has a small hole in his heart that may require surgery in the future but other than that he has no health problems.
I am happy with the choices we made and I'm very glad he is in my life.

[Jessie5]

Hi, my son’s NT measurement was 4.1mm at our 12 week scan, we decided to have the harmony test privately which came back low risk. (1 in 10,000) I think we had to wait about 5 working days for the result. During this time my combined screening came back as 1:192 after my blood results. We also had an extra heart scan at 16 weeks which did not show any issues. My son is 11 months old now and is doing well. I don’t know if it is a possible reason for the high NT reading but he had some excess skin at the back of his neck when he was born which has now gone down as he has grown. I spoke to the ARC charity for further support at the time, I found them really helpful. I wish you all the best, it is a worrying time of waiting and deciding, I hope all works out well for you

[Claudius123]

Thank you so much for your replies. It's totally thrown me, we're going to have the private test after we get the NHS results. I just keep hoping by the next scan it will have went down, it's been a roller-coaster few months and I just can't believe it's happening.

[Teddypicker1]

Ds had measurement of 4.5. We had cvs and it came back clear. However when he was born it turned out all was not right. At a year old we had a full genetic review and he was diagnosed with white Sutton syndrome. It's got a wide spectrum but most adults lead semi independent lives.

A high neck measurement can have so many different outcomes. So really be prepared for anything.

[MadeForThis]

My nt measurement was 4.2. The bloods have a risk of 1:5. We had also had a previous missed mc so didn't want an amnio. Paid for the harmony test and a week later results were 1:10,000.

Dd was born and no issues. Now almost 4.

Prepare for any news. But I would 100% get the harmony or a nipty test. I totally trusted the results and didn't stress throughout the rest of the pregnancy. Well not about that at least.

[stucknoue]

My friends daughter has downs, she's just started college (higher ed) in the US. My DD's scan was normal and she has additional needs and is struggling. Try not to worry, but the extra heart tests are often offered if downs is suspected

[NuchalMeasurement]

I'm really sorry that you are going through this OP. I remember how devastating it is, our DD's measurement was similar and we'd also had a miscarriage shortly before. Our story is a very happy one though

A higher than normal measurement can be an indicator of chromosomal problems like Downs. The NIPT uses placental DNA from your blood to check for Down's, Edwards and Patau (I think some also test for Turner's if the baby is a girl, but I'm not certain). This doesn't rule out other rarer chromosome anomalies and it isn't considered diagnostic (rarely could give false results) but it generally very accurate. You could also opt for CVS now or amniocentesis in a few weeks which could check the full microarray for chromosome disorders (but this does not look at or rule our genetic disorders which are slightly different - it's impossible to test for all the possibilities but this is the case with every pregnancy.) CVS will give you a faster result but uses placental DNA so is very slightly less accurate than amnio which uses fetal DNA but both are considered diagnostic. These invasive tests (unlike NIPT) carry a very small risk of miscarriage.

If a chromosome problem is ruled out, as it was for us (we had CVS at 13 weeks) your hospital may suggest checking for a structural problem that could have caused a higher than usual level of fluid. We were sent to London for a fetal heart scan twice and had extra anomaly scans which were all normal.

At 4.1 it is higher than normal but on the lower half of the risk charts if that makes sense so if the chromosome tests and any additional scans are normal your hospital will probably say that the risk of problems with the baby are now a background risk like with every pregnancy and not to worry (so much easier said than done!)

I was so so worried throughout and spent hours and hours looking for stories and found lots and lots of posts from people who'd had a similar measurement and their babies had been born absolutely healthy and grown up to be lovely normal children with no signs of any problems.

Our DD is an amazing, happy, active little thing hitting all her milestones (walking, talking etc) early and she is the best thing ever. We found out not long after her birth that she did have a very rare physical problem which sounds severe and of course it is a big worry, but our hospital are confident surgery will be very successful and it hasn't affected her development at all - in fact most people are astonished to hear it as you'd never know to see her. We really hope and are quite confident it won't impact her life. It might have been a complete coincidence but I think it makes sense that the measurement is connected.

Please PM me if you want to talk. I remember how awful it is and will be thinking of you.

[Magneticred]

With DD3 she measure 4.5 at a similar gestation. I was given 1 in 12 for downs and 1 in 23 for other Edwards and pataus syndrome. I didn't have any further testing as I was worried my ex would try and pressure me for an abortion as he had only just accepted that I was going through with the pregnancy.
I was given extra scans and put as a high risk pregnancy. She was born at 39 weeks and has no obvious health probs the only thing we noticed was 2 dimples and a v above her bottom. No one seems concerned and she's a very bright and active 2 year old now.

[Claudius123]

I'm going to book the private testing today. It's scary to hear it won't test for every abnormality, don't get me wrong, I'm not suggesting I expect the perfect child but I'm obviously hoping the nuchal fold measurement can also just turn out to be nothing. My daughter is only 1, I'll have two under two when this baby is born and I was already nervous, now I'm terrified.

[NuchalMeasurement]

It does test for the most common though, and every pregnancy has a background risk of abnormalities.

It might be worth just checking if your hospital does NIPT on NHS as our's did (but we went for CVS for full chromosome test in the end)

[Claudius123]

Thank you Nuchalmeasurement your information has been so helpful. It's going to be a long wait until Tuesday for the NHS results.

[123family]

@Claudius123 im in same situation. Miscarriage in january so all i was worried about at dating scan was heartbeat. Which all looked perfect then the lady mentions the high nt also 4.1 i was so upset with midwife and the not knowing we decided not to wait for blood results so went and had a cvs test dond a few dsys later. It fell on a Friday so im agonising over the results coming either today or tomorrow. Hope we both get good results and healthy babies.