Nuchal Fold

ladyanaya · August 2015

I was at the doctors office getting my normal check up and ultra sound. I was 10 weeks, 2 days pregnant at the time. They measured the baby's nuchal fold at 5 mm and then told me how it may be a chromosomal abnormality or a serious birth defect. I'm terrified now. I am going for my NT scan next Monday - I will be 11 weeks, 5 days. I'm 28 and my husband is 30. Has anyone had any results like this with their current or past children? I am having a difficult time handling the news and the anticipation to do the NT scan is killing me. Please keep me in your thoughts...

pettycrocker · August 2015

Hmmm... I thought it had to be done between 11 and 13wks for a reason? It's not accurate before or after that point? Prayers that everything will be fine next week

ladyanaya · August 2015

Thanks for the prayers. The NT scan is suppose to be done between 11 weeks and 13 weeks, 6 days. I don't know for sure if it is less accurate if the doctor takes a measurement earlier or not, but I would assume there is some inaccuracies. This was just a measurement they took in my first trimester ultrasound to alert me of a possible issue and if we should do the NT scan or not (we were already going to do it anyway) Doctor told me its not the highest he has ever seen, but that it is really high and went over all the different things it could be.

LisaDawnA · August 2015

My cousin had a doctor tell her the same thing before 11 weeks. He told her her baby probably had downs syndrome. 2 weeks later, the doctor they saw told them their baby was fine and the first doctor was crossing the line when he made that diagnosis so early. She had a healthy pregnancy and now had a happy, healthy, 8 month old girl.

Life is Exciting · August 2015

Hopefully it was just too early. Have you considered getting the blood test to check for down's? I got the harmony and it wasn't covered by insurance but only cost me $130 out of pocket because they cap it for those whose insurance doesn't cover it. Since it's over 99% accurate, it might help you to get some certainty. Although it did take 8 calendar days to get my results back.
Good luck! I'm sure regardless of whether or not the baby has a disability, you'll be a great mom to him or her.

BabySeaTurtles · August 2015

To me, I am no medical professional, it may too early. My OB said the measurements cannot be really considered until 12 weeks. Hopefully it's just too early and everything will be fine. Plus, even if the measurements are off, it still doesn't mean anything. They have to do blood work to truly confirm anything and even then could still find no defects. Try not to worry in the mean time.

FreshBakedBrownies · August 2015

Agreeing with other responses, hopefully it was just too early? But I'd be doing both the nt scan and one of the cell-free DNA tests (harmony, materniti21, etc) to get the most information without having an invasive test.

breanna86 · August 2015

Here's the thing with those tests: They don't prove or disprove anything. They just show indications or "markers" for different things. I have a 6 year old brother and his fold was thick and indicated a strong possibility of Downs Syndrome. He doesn't have Downs Syndrome--no medical abnormalities, actually. When I was pregnant with my daughter, her fold was all within the range of perfection; however, she was born with and died from Trisomy 18 that even with crazy constant monitoring for her small size came as a total surprise to us at her birth. The only way they can give you any definitive answers is through an amino which comes with great risk. (It's too invasive for me--so even with my history I will not have one because I wouldn't terminate the pregnancy for bad news anyway and I would not be able to forgive myself for compromising a perfectly healthy pregnancy--but that's my personal opinion and I respect and understand those who do the invasive testing, it's just not for me). Even with my false negative with my daughter and the false positive with my brother, I still had the NT scan with my son and my appointment for this baby is the 12th just to see how things look (even though I know that the results, whatever they may show, might not indicate anything one way or the other--it's all based off of statistics).

What I'm trying to say is not to put too much pressure on that one measurement that gives where you fall on a scale of statistical markers and for now just have faith in your baby and love your baby and be strong for your baby and have faith that everything is fine and that's all it is: a marker. Keep us updated though after your NT scan because, as others have said, your measurement was taken early so the reading could be different.

Erinka · August 2015

Even if it's not too early that info is not a diagnosis.

Latina211508 · August 2015

They told me with my first child that he had a chance of downs because of the thickness on the back of the neck. I chose not to do the amnio (sp?) because of the chance of miscarrying. He's a healthy 6 year old now.

anamilia · August 2015

I agree with PP. It is not the correct time period. It is also supposed to be done in conjunction with blood draw for most accurate results. The blood draw is actually 2 blood draws (before and after the NT). Also, do you know what type of machine they were using? My provider has multiple types of machines and for the NT the use a more sensitive, more advanced machine because the imaging is better and therefore gives better measurements. My first pregnancy we miscalculated dates (because of bleeding that seemed like a period, but wasn't) and at my first appointment I was already 11weeks+ pregnant. At that appointment my doctor told me to get the NT scheduled right away and I ended up having to got to a different campus because the 4 special machines at my normal campus were already booked during the dates that I needed to have it completed during.

PP are also correct about the results being a statistical result. Our genetic counselor pointed this out multiple times. The actual NT give you one set of statistics and the when combined with the blood, they change the statistics accordingly. So my NT last time showed a statistically small chance of downs last time, but that chance became even smaller with my blood results taken into account.

MissesSJ · August 2015

It is important to remember that the NT scan is not a diagnostic tool; it merely tells you a risk level/likelihood of chromosomal abnormalities. And yes, 10 weeks is early, don't stress! There is still a 5% false positive probability IF the test is done within the correct window (which 10 weeks was not).

Timmysgal02 · August 2015

The ladies gave you some great advice here & I hope you get some more comforting news at your nt scan. Prayers for you & baby and keep us posted!!

gollymrsmolly · August 2015

When I was pregnant with DS the U/S tech said DS brain ventricles were measuring a good amount out of normal limits, meaning hydrocephalus, delays, and possibly other brain defects. We had to wait 3 weeks until our level two ultrasound at a special clinic. It was a horrible wait and I think it took years off of my life. Long story short at that appointment they determined that the previous U/S tech took the wrong measurements and babies brain was growing right on track. I now have a very healthy, normal development one year old.

Please, try your very best not to stress out and stay off google!! I am sending positive thoughts your way for a healthy happy baby!

MrsJG3 · August 2015

Just to be clear, the free cell DNA test is not the standard blood draw that comes with the NT scan. That blood draw is the quad screen. Hoping for the best for you. I know waiting is hard.

RRC216 · August 2015

@ladyanaya Don't stress! This same thing happened to me!! They measured too early. I went in at 11 weeks for a cvs, and they said It was fine. I wen't with the cvs anyways. Big mistake! I miscarried from the cvs. He was a completely healthy baby boy! This was around Christmas. Try not to stress. The high risk doctor said it is not supposed to me measured til after 11 weeks for this reason! Regardless, you are still in my prayers!! Everything will be ok!! Hugs!!!

ladyanaya · August 2015

Thank you all ladies. I appreciate it a lot and it has made me feel better. I will keep you updated with what we find out.

mommyaviles · August 2015

The reason for the cut off is because the neck is no longer translucent around week 14. I had an NT scan yesterday at exactly 14 weeks with a sonographer and perinatologist because our baby's neck was still translucent.

ladyanaya · August 2015

Just an update, we had our NT scan today. Results were not good, 4.83 mm measurement of the nuchal fold. They also noted an abnormality with the cord, they could only see 2 of the 3 vessels they would typically see. They said this is not as big of a deal and a lot of babies have this condition, but it is something to watch. We opted to do the CVS test to determine if there really was anything wrong, instead of stressing and worrying. Hoping to have those results back tomorrow or Wednesday.

Jellybelly119 · August 2015

Fx for good news for you @ladyanaya

rainbowminion · August 2015

Thinking of you! I'm sorry you have to deal with this stress.

antoniaakhavan · August 2015

Fingers crossed @ladyanaya! I just had CVS last week and am waiting on the results. I know it is different for everyone but please make sure you have people on hand to help the day or two after, especially if you have other children.

bjfras · August 2015

I'm so sorry you are going through this. We had our nuchal screening today and though I don't know the exact measurement, the doctor said it was measuring on the high end. Waiting for blood test results to come back before I start to worry. I hope your baby is healthy and all of this is stress for nothing! Please keep us posted! Sending thoughts and prayers your way.

FreshBakedBrownies · August 2015

@ladyanaya prayers your cvs results come back ok! Hopefully you'll find out soon so you don't have to worry too long?

breanna86 · August 2015

I'm so sorry that your follow up did not bring you good news. My daughter had a 2 vessel cord also (called a single umbilical artery). We went for a lot of extra testing but never anything invasive. Everything else looked totally normal for her (because of the SUA we had to go for ultra sounds and NSTs once to twice a week--depending on what they felt we needed). I can give you a lot more details on my experience with it you want. It turned out (and we didn't know until she was born) that she had trisomy 18. But SUA is considered a VERY VERY soft marker for trisomy 18--so our doctor at maternal fetal medicine and multiple genetics counselors we met with felt our risks of having any major problems was less than .03%. SUA occurs in 1 out of 100 pregnancies; so it's really not that uncommon. We just happened to fall into the .03% of the population. But I went through it so if there is anything I can talk to you about just PM me. I'm only on TB like 3 times a week because it is so slow on my computer but I will check in for any messages.

Best wishes for you!

ladyanaya · August 2015

We got our preliminary results back yesterday from the CVS test. No signs of trisomy 13, 18 or 21. Get the full results next week that will be looking for any other problems. Also, it's a GIRL!

FreshBakedBrownies · August 2015

ladyanaya said:
We got our preliminary results back yesterday from the CVS test. No signs of trisomy 13, 18 or 21. Get the full results next week that will be looking for any other problems. Also, it's a GIRL!

That's great news!

rokxnxroll · August 2015

I just got a call from my Drs office today. They told me last week at my nt that the measurements were perfect, but said my blood work came back positive for downs. Kind of freaking. All I can do is think positive. They want me to come in tomorrow morning for the harmony test. The girl on the phone said false positives are normal?????? I talked to a few people at work and they said their wives had false positives with several kids and got to the point where they thought the harmony test was just another money maker for the offices. I googled the blood work and nt scan and it said 1 out of 20 get a false positive! That seems super high...ugh... Just keep swimming... just keep swimming... Happy thoughts. Happy thoughts. That's what I keep telling myself.

mwmiller4 · August 2015

Hi, @rokxnxroll Everything I have is crossed for you right now! I know two people who had the exact same false positive happen within the past 2 years. Both babies do not have Down's syndrome, so I feel like it has to happen pretty often. Those experiences are the reason why I did the visibiliT21 test instead of the NT/quad screen (it's a cell-free DNA test like the harmony test but only gives the odds for trisomies 18 and 21. Harmony will give you odds of Trisomies 15, 18 and 21). After having a missed miscarriage in December, I really wanted to have as much information as possible. That being said, cell-free DNA tests (like Harmony) are just more accurate screening tests (they don't tell you for sure like CVS or amnio because of how the DNA is collected). The odds for a trisomy can still come back high and the baby may not have it. It's much more rare for that to happen with the cell-free DNA tests, but it does happen. (And I don't think there's enough data yet to really say how "rare" a false positive with the Harmony test is if you're under 35--but there should be stats for 35+). A false negative with a cell-free DNA test would be exceptionally unlikely because of how the test works (which I can explain if you want, I think. I used to be in developmental biology so I kind of became obsessed with figuring out how the tests worked.) Anyway, I hope that this was helpful and I'm so, so sorry for all the worry and anxiety!

minivanmafia · August 2015

rokxnxroll said:
I just got a call from my Drs office today. They told me last week at my nt that the measurements were perfect, but said my blood work came back positive for downs. Kind of freaking. All I can do is think positive. They want me to come in tomorrow morning for the harmony test. The girl on the phone said false positives are normal?????? I talked to a few people at work and they said their wives had false positives with several kids and got to the point where they thought the harmony test was just another money maker for the offices. I googled the blood work and nt scan and it said 1 out of 20 get a false positive! That seems super high...ugh... Just keep swimming... just keep swimming... Happy thoughts. Happy thoughts. That's what I keep telling myself.

I don't have any experience but I have heard that false positives are very common, unfortunately. Best of luck to you and keep us posted. Try not to worry... Easier said than done.

Jellybelly119 · August 2015

@rokxnxroll keeping fingers crossed for you! From what I understand, the combo of the U/S and blood work get considered to give you the probability of a potential abnormality. Since you had a good scan, hopefully that info will factor in in a positive way! Best of luck and keep us updated!

ladyanaya · August 2015

rokxnxroll said:

I just got a call from my Drs office today. They told me last week at my nt that the measurements were perfect, but said my blood work came back positive for downs. Kind of freaking. All I can do is think positive. They want me to come in tomorrow morning for the harmony test. The girl on the phone said false positives are normal?????? I talked to a few people at work and they said their wives had false positives with several kids and got to the point where they thought the harmony test was just another money maker for the offices. I googled the blood work and nt scan and it said 1 out of 20 get a false positive! That seems super high...ugh... Just keep swimming... just keep swimming... Happy thoughts. Happy thoughts. That's what I keep telling myself.

Sending happy thoughts your way. Like a previous poster said, these test are not 100% unless you do CVS or amnio, which is why opted for CVS - we wanted to know for sure. Be thinking of you, stay positive (I know it's very hard).

salixjoy38 · August 2015

Fingers crossed for you @rokxnxroll. Genetic screening stresses me out a lot. I do my blood test this week and I'm nervous already waiting for the results.

rokxnxroll · August 2015

Thanks for all the crossed fingers and hopes. The power of positive thinking should prevail. Harmony test in the morning and should know a week later. I'll just keep on a happy face until then!

Charles&Jahmeelah · August 2015

@ladyanaya I just did my Nuchal screening at 12w3days. Although it was fine, they also offer a blood test that is diagnostic (Nuchal is NOT diagnostic) and tests the baby, yours, and if possible, your Husband's DNA for a true diagnosis. Because you are 28, insurance may not cover it, but I would ask for a diagnostic exam (I think it's called NIPT) not just screenings. The results take 10 days, but at least you'll know for sure. But you MUST keep the stress down. That will do way more damage to your little baby than anything else. Prayers up and with your family!

ladyanaya · August 2015

@Charles&Jahmeelah I did a cvs test, which is also diagnostic. Full results will be back next week, early results were good. Thanks for the suggestion, could help others in the same situation.

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