nuchal translucency test, results not so good

[organicpapayamama]

I cross posted in my ddc too but wanted to get as much feedback as possible. first off let me say that I am 26 yrs old and the father of my child is 27. Neither of us have a history of Down's in our family. So yesterday at my big anatomy scan at 22 weeks the dr said the nuchal fold was measuring big at 7mm and that my baby has an increased risk of having DS. That was the only soft marker. no other markers found like shortened limbs, her heart was find so were her kidneys and everything else. I am refusing the amnio as I am going to keep and love her no matter what and peace of mind isnt worth putting her life at risk. I already had to have one funeral for one of my children I couldnt do it again.

as soon as I got home I began researching everything. I saw that this measurement is usually taken between 11-14 weeks and isnt accurate after that. well I was 22 weeks 1 day yesterday... so why did they still do it. when I asked the dr what the normal range was he said he didnt like to give ranges.... what kind of an answer is that? so I found somewhere that said at 19-21 weeks it should be roughly 5-6mm but Im not sure if thats accurate. If it is... baby measured 7mm at 22 weeks 1 day which isnt too far off.. it could be borderline right? I mean we are talking millimeters here and I know u/s can be off so maybe he was off. I trust him... he has been doing t his for decades, ive seen him with each of my pregnancies, he is well known for his work, people come from all over the country to see him and is dr to celebrities as well. I know his machines are up to date but there is always room for human error.

Id like to know if there are other options. can i get a second opinion? can they do follow up scans to see if it eventually measures "normal"? or will I just have to wait till the baby is born to see if she is ok? can they tell just by looking at her after birth? I hate that Im going to be worried for the next 4 months. I know the stress isnt good for me or baby. Anyone that has info or has btdt please give me input and outcomes of what happened with your baby. tia!

[Mosaic]

Hi OPM, I'm in your DDC.

I had a high NT measurement at 11 weeks, and we were told that later testing was not nearly as accurate: with several markers, the detection rate at the later ultrasound is still only 50/50. So I think that a high NT measurement at this point, if everything else looks fine, means almost nothing. High NT measurements are also linked to cardiac defects, but they looked at the heart and that turned out fine. Did they do the quad screen or any other blood tests before the u/s?

Regardless, if there are no other markers, and the NT measurement was only 7mm, I think you have a healthy baby.

And FWIW, we did follow up with additional testing (as our NT measurement was 3 times bigger than normal), and this baby is a-ok: no DS, no other trisomy, heart looks good

[MaerynPearl]

my nephew was supposed to have the same problem... he turned out fine and his mother spent quite a while worrying over nothing

the same for you... it seems to be more common for them to tell you its possible than for it to actually be the case.

[ivymae]

It is so common for these soft markers to worry women, and then their little ones be healthy (my sister is one of those women). I would be comfortable asking for another US in a month or so, to see if her (congrats on having a girl! ) kidneys/heart still look good, if she is growing at a normal rate, if they see any other markers, etc. My guess is that she would be exhibiting more markers, or the measurement would be much further off, if she were truly a child with downs. Even if the measurements are correct, babies grow at different rates, and a mm difference does not seem so outside of the range of normal to diagnose anything.

When she is born, they will be able to tell quickly if she has DS - there are pretty distinct markers, not only in their facial features, but also in their muscle tone, hands and legs.

[Simply Mama]

You are right, that is not a reliable indicator at your stage of pregnancy. It can be considered a soft marker, but one soft marker doesn't up your odds very much. Even if you don't want to do an amnio, maybe talking to a genetics counsellor or requesting an u/s with a perinatologist would put your mind at ease.

I can't believe he didn't want to give you a range, but yet tells you your child is not within the normal range. Ridiculous.

((((hugs)))) to you mama, I'm sorry you are left feeling uneasy.

[Tulafina]

I'm sorry you're going through this.

I personally have never had this happen to me but a close friend of mine went through this just this summer so I can tell you what happened to her.

She had an NT scan that was in normal range but slightly on the high side and then she had her blood test come back with an elevated chance for downs- 1 in 44. She decided to get an amnio at 16 weeks...the office misplaced her test results and she worried until 19 weeks when they finally called to tell her that her baby was totally NORMAL!! She looks back and still gets angry about being so depressed through half of her pregnancy(her last one) when nothing was wrong with her baby. The chances are good that your baby is perfectly fine

Healthy baby thoughts coming your way! ~~~~

[organicpapayamama]

thank you all. here is a quick update:

I just got a call back from the genetic counselor. yesterday there were giving me general info because they didnt have the numbers that went with my AFP test. So they couldnt tell me my specific risk. Good news is with just the blood results my chance was 1/93000. now with this new finding it increased to 1/8454 which is still extremely low. percentage wise thats only .1% she will have ds and 99.9% she will be ok. I feel much better but it is still in the back of my mind.

Also although I am 22 weeks my OB was off on my dates and put me at 21 weeks (though I know better ) but have been consistently been measuring (my belly) with my dates perfectly. I just looked at the u/s pic the dr gave me yesterday and it say 18 weeks! wth thats a month behind! no one said anything about the baby being small or anything but isnt that a ds indicator? How could my belly be measuring 22 weeks and her 18? or did they just type a date and it calculated the gestational age... uggg. something new to obsess about....

[MsVyky]

During my anatomy scan, my daughter had several soft markers for DS. Of course I freaked (I'm 26 too, 25 when she was born).I also declined the amnio.


Guess what? She's 100% healthy and normal (and perfect!)

And yours is too

[Cheshire]

As you've said, ultrasound measurements can be off. Trying to date your pregnancy at this point could be way off.

My third baby, also my rainbow baby after my second son's death, had a large measurement around 11 weeks. Don't remember the exact dates but the measurements were taken when they were supposed to be most accurate. I worried a lot but she had a nasal bone at the scan so that made me feel a little better.

We had a number of scans after and each time her measurement got closer to normal and no other soft markers were found. With my age, I'm older, we didn't do any blood testing or amnio.

In researching I found that many cases of DS are never caught on ultrasound - somewhere over 50% if memory serves me. Our doc said even without other soft markers we just wouldn't know for sure until her birth. He was also concerned about other issues that could cause a higher measurement and he looked for signs of those as well. He said an amnio would tell us genetically if anything was wrong but some diseases aren't genetic and won't be picked up with an amnio (sorry I can't remember which ones).

Our regular OB kept reminding me that we had a 97% chance that our daughter was fine. It was hard to look at statistics knowing that statistically we had a better chance of being struck by lightening as we won the lottery while sprouting two heads than what happened to cause our son's death. We'd already hit the crap lottery with the odd issue for him so we didn't find comfort there.

What we did do was take it one day at a time and just enjoyed every moment of my pregnancy. Each scan helped us feel better because we could see her growing. Our perfect little girl was born and she's just peachy.

Best wishes!

[organicpapayamama]

figured out the date thing. Last time I went I was 19 weeks... 18 according to my OB. These were the measurements from last time. He did mention that they were already populated during the scan and assumed he did them that day so it reflected measurents from 3 weeks ago not today. See if he messed that up maybe he messed up the NF measuent too. I feel good now.

[organicpapayamama]

so I know I said I feel that in the end I feel like everything will be ok... and I do but I cant help but worry. I have been obsessing about the what ifs everyday all day since the day of my appointment. I have been having trouble sleeping waking up from horrible nightmares. Oh mamas... Im trying not to obsess really I am... but trying doesnt stop it all. Im a worried mama already to my little babe. I hate the not knowing for sure.... wahh. I just need someone to tell me its going to be ok. and that they went through it and everything was fine. Im going to bring this up to my OB but my appointment isnt for almost another 2 weeks... so thats another 2 weeks of stressing...