Bad Nuchal Translucency results...high risk.

[wannabamommy]

Hi everyone. I just came back from my IPS testing to look for any chromasomal abnormalities like Down's syndrome, spina bifida, and trisomy 18. The baby's NT measured 4.1mm. Which is high and puts me at an increased risk for having a baby with down's, trisomy 18, or heart defect. So now I need to get more testing done...possibly amnio or cvs. Normal NT is less than 3mm. I'm soo worried, I can't stop crying and thinking the worst. Like what did I do wrong? I'm really scared about the results. I want nothing more than a healthy baby. Just can't believe this is happening to me. Anyone else have a high NT measurement and have a normal healthy baby. I'm worried b/c I'm still very young to be having such a high result. I also had blood drawn today to check for the proteins...don't know when I'll get the results....hopefully tomorrow. The wait is killing me.

[LazoMom]

First of all I want to let everyone know how helpful these posts have been for me!

I'll give you a little bit of my history, which some may find helpful and then let you know what's currently going on for me.

During my first pregnancy (26 years old at the time) the ultrasound at 11w 4d showed a measurement of 3.3 mm NT putting our chances at 1/10 of having a baby with DS.  The genetic counselor insisted on scheduling an amnio right away and didn't give us any other options.  Luckily we had already had our first blood draw for the combined screening, so I knew it was an option to consider these results and I told her that I wanted to wait until we got the results from the second blood draw to make any decisions about whether or not we would do an amnio.  She insisted and insisted that I AT LEAST schedule the amnio, which really bothered me.  At the time I felt certain that our baby was fine so I dug my heals in and told her that we'd just decide later.  As it turns out our results from our second blood test put us in the clear and sure enough our son was born happy and totally healthy. With this experience I felt very calm and collected throughout.  I was sure that our son would be fine and I wasn't going to allow this bully of a Genetic Counselor talk me into an unnecessary procedure that could put my baby's life at risk.  When everything came out ok I felt like I couldn't really trust these people and that they weren't really there to help you through the process, but to schedule amnios.....  I even started to get all conspiracy theory crazy and began thinking of scenarios where the counselors get points for every expensive test they schedule.  Anyways, let's just say that I was a little traumatized by my experience of having to feel so cornered and that I really had to argue with someone to do what I felt was best for me.  All in all, everything turned out ok, water under the bridge, right?

I am currently pregnant with our second child (now 28 years old) and our 11w 5d NT screening gave us a measurement of 5.5 mm.  Here we go again!!!  What are the odds of this happening twice!?

I've read through all of these posts and just from this sampling, I can see that indeed this is very large.  We immediately met with another genetic counselor and she wasn't nearly as weird as the first lady, luckily.  However, to be fair, since I've been traumatized into distrusting this process, I've been on high alert for things that don't add up. For example, she gave us our odds as being 1/12 chances of DS.  I'm not sure why our odds are less than with the smaller measurement with our first, but anyway.  I decided we'd do the same thing as with our son, we'd do the sequential screening and wait for those results and then decide on whether or not we'd do an amnio.  Luckily, since this counselor doesn't appear to have an 'amnio-scheduling-agenda' she was supportive of this plan and said that she'd be happy to help us in whatever we decided to do.  

So that same day they drew my blood to start the sequential screening.  The counselor did warn us that mostly likely it would 'screen positive' since it takes into account the NT measurement, and since it is so large, it would very likely cause a positive result.  I told her I wanted to see what the blood results were either way.  We just got the results back and as she warned, it is 'screen positive,' for DS in particular.  However she did say that my blood matched the patterns for DS.  Now our chances are 1/10. Bummer.

Here's my problem, this time around I don't have that 'renegade' attitude like before,  Maybe it's because I'm sleep deprived and chasing after a running 14m old, or maybe it's because this pregnancy is a bit of a surprise and I've taken a while to wrap my mind around having a second and have had a hard time connecting to the baby. I don't really know.  I just don't have that 'for sure' feeling that I did with my son and with these results I'm concerned.  

I've decided to schedule an amnio as soon as is possible (I'm 13w 4d right now) because, while I don't really know what we'd do with the results if they were positive, I'd like to know for sure, either way.  

I'll update as the saga continues.  I'm hoping to be yet another example of the false positive nature of this business.  Wish me luck!

[xsara_d]

I'm 31 and expecting my 3rd child. My NT scan came back with a high reading of and the hospital advised me that my risk of having a Ds baby was 1:274. I turned down amnio and CVS because I felt then that I would keep the baby regardless of the outcome of those tests.

Today however, I went for the 20 week detailed fetal scan which showed several markers highly indicative of Ds (short limbs, low amniotic fluid level, etremely small sized baby according to gestational age, abnormality in the clavicle vein/artery, esogenic bowel tract, backflow of blood in the heart). I'm numb and as much as I would like to keep myself optimistic, I've come to realize that I am not (probably not ever going to be) emotionally equipped to raise a child with Ds. In retrospect, I should have gone for an amnio when it was offered, if only to give myself peace of mind. I will be going for an amnio as soon as I can and proceed from there.

Just needed to unload here. Thanks for reading.

[oksana38]

And also, no one forced me to get an abortion. My genetic couselor kindly went over the facts and my options. It was up to me to decide.

[oksana38]

As to your advice:
A) How is it possible to not stress? Any normal human being that has feelings will stress in a situation like that;
B) It is everyone's personal decision to have amnio. Are you trying to preserve the planet population or what? My amnio confirmed that my baby had Trisomy 13. I don't know where you live but where I live amnio is 99.9% accurate. Good for you that your baby didn't have any issues. However, this is not the case for everyone;
C) It is everyone's personal choice whether to have an abortion (I wouldn't want to use this word actually, because it's not that you're getting rid of a healthy baby that you can potentially bring home). And, if you are okay with taking care of a disabled child, not everyone else is. Just remember that.

[Mum2B3]

For everyone that got a HIGH RISK I just want to give you all some advice.

A) DONT STRESS
B) DONT HAVE AN AMNIO
and C) DONT HAVE AN ABORTION

I am 21 now (20 when i did the scan) and i didnt just get a high risk, i got an EXTREAMLY HIGH risk.. The doctor demanded i go to counciling at the hospital, which i did. There they wanted to book a next day abortion. Not even giving me time to think. I told them i wanted to first get the opinion of my Doctor, which reacted in saying 'What are you waiting for, you dont want to raise a child with down syndrome'.I refused to listen to their advice (i couldnt possible terminate another human bean, let alone my own baby!!) I decided im going to have the baby, so i begun to prepare myself for a child with many abnormalities, i wanted to be ready.

I must say the next 6 months was the most stressful time of my life!! Instead of enjoying my pregnancy I was constantly worried. Although i came to terms that i could not terminate my pregnancy, As much as i told myself that i would love my baby no matter what, It was hard facing the fact that i had an extremly high risk and honestly I was not very keen. I didnt enjoy baby shopping, and i was not excited at all to have this baby.

Now My baby is now 6 months old and as healthy as she is beautiful (thank god). I changed my Doctor because a doctor that would encourage someone to have an abortion because of tests that no one even knows how is determined, does not deserve to be anyones doctor. I honestly wish I wouldve enjoyed my pregnancy rather then being constantly stressed and worried.

Just to add, alot of my friends, both younger and older (20's and 30's) have experienced the same thing. One of my friends was told her baby had no arms or legs during all her ultrasoulds!!!!! EXTREME!!!!! She was strong enough to keep her baby and Her daughter is now 12 and in 100% fine.

I think that the country is trying to reduce their population or somthing, or they dont want as many people giving birth, so they have come up with this theory to make people have abortions when in fact people that keep their babies have the healthiest happiest babies.

I dont know why Doctors even recommend this test being done when there is no proof behind the results, and we dont know how they reach their conclustion of a percentage. Such test that has more false positives then posotive positives, should really be dismissed. I know for a fact if i was to have another baby down the track, I would NEVER even think of doing this stupid, horrible inaccurate tests again. And whatever happens happens, at least i get the chance to enjoy my pregnancy.

All the best of luck to all that have gotten a high risk, keep strong, and remember my story hopefully yours will be the same and all will ok:-)

[beachgirl4508]

This is my 2nd pregnancy and I am 27. I went in for my 12 week NT Scan w/ blood work and the babies neck looked normal, I think 2.1 mm, and at 12 weeks they could not really see much more. At 14 weeks they called me back with the results and the doctor told me that my results came back abnormal and that my odds of this baby having DS was 1:140, which is equivelent to a woman over 35! The doctor said that my blood chemistry and the babies blood chemistry was abnormal....I was freaking out and crying! My last pregnancy was so normal all the way to the end, and no complications whatsoever. My husband or I have no history of chromosomal abnormalities. I feel like I may have done something wrong. I have another ultrasound at 16 weeks (8/24/11) and they will be looking for soft markers. Im really praying that the ultrasound looks good. I will not have an amnio and am willing to take care of my child whatever may happen, Im just scared for the baby and am praying that the baby is healthy. Any words of encouragment would be appreciated! Thankyou :)