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.

[kate33698]

At our first 12 week scan we were told our baby had a high NT result at 3.88, we were given brochures to read over as they had thought our risk for chromosone abnormalities would come back high. We were devastated I could not speak in the car on the way home and my husband was in pure shock. We waited two days to hear from the midwife who delivered the horrible news that we had a 1:26 chance of the baby having chromosone abnormalities. We could not understand why this was happening to us as we are only 25 years old, extremely healthy and no history of any chormosone abnormalities in our family. We then booked in to have a CVS completed on Friday the 7th of Dec I found this uncomfortable but not painful however afterwards did have some minor cramping for the following two days, we then received the FISH results the following day which came back negative.


Two days later we received more bad news that I had an infection which caused the cells to die and not be able to culture correctly and therefore I could not be given a final result. The midwives suggested I book for an amnio as the FISH results can have false negatives/ false positives. We had the amnio completed on the 21st of Dec and had to wait over the chrissy period to obtain full results. Yesterday I received fantastic news that our baby is 100% healthy and the test was all clear.

I thought I would post our story to give others some hope as when I received all the bad news I found this forum to be extremely helpful in staying positive. I wish everyone the best of luck remember to stay positive.

[Eternaloptimist612]

At our 13 week ultrasound, our excitement and happiness turned to worry when we were told our baby's NT= 4.9.  We were devastated by the news that our baby was at an increased risk for Trisomy 13, 18, 21, and heart defects.  I am 26 years old, husband is 31, and this is our first pregnancy.  Being 13 weeks pregnant, we were told that I was too far along for the CVS test, so we waited until I was 15 weeks pregnant to have an amniocentesis.  In the meantime, my bloodwork results were calculated for the risk of chromosomal problems.  Taking my age into consideration, my calculated risk for Trisomy 21 is 1:60, T13 1:124, T18 1:124.  Fast forward to today, we received the FISH results from my amniocentesis and our baby tested negative for all preliminary chromosomal abnormalities (T21, T13, T18, AFP protein, and others I can't recall).  These FISH results have a high accuracy rate, and it is likely that no other problems will arise when the full amnio results are in next week.  I should add that my dear sister has Down's syndrome (T21), and that her chromosomal work up shows that there isn't a chromosomal disjunction in our family, and that hers is a spontaneous case.  This fact also eased my worry that perhaps I had an inherited chromosomal dysfunction.  I hope that our story gives you all hope, and we pray for all to have healthy babies!

[NTFU]

NT=3.9mm.

Age 33. Was told that blood testing "would just muddy things up." Probably would have, honestly. Wasn't told any other measurements or given a # out of # odds. In general, was kind of freaked out that no one seemed to really appreciate/understand/know the probabilities I wanted them to know, particularly considering that we were thinking about a potentially risky procedure that did have such numbers. I mean really, what else should a genetic counselor really know or be able to look up? Still bothered by this.

Retested 72 hours later just before CVS; NT=2.5 to 2.9 max. Dr. said this was "normal" now, didn't think the prior number was inaccurate. With that kind of rapid change, I wondered whether there has ever been a study of the stability/normal variability of NT (measuring, say 30 random pregnant women every day throughout this four week or so window to see how much fluctuation was normal, or how many normal pregnancies would reach a 3.5mm at least once, etc.). Haven't come across that kind of study yet - could explain some of the variability in outcomes. If we'd scheduled the ultrasound on Monday instead of Friday I think we probably would have just gone along as normal. Now that's shot.

FISH results just came back normal today, QUITE relieved, but still waiting anxiously now for the rest.

I've found these posts to be very helpful. I've also found the following site to be a very good and comprehensive resource; from 2001 but probably about as up to date as necessary since it looks like most of the formative research was conducted in the 90's anyway:

http://www.sonoworld.com/Client/Fetus/html/11-14week/chapter-01/chapter-01-final.htm

I also found a table from Souka et al. (2005) reproduced a couple of other places online that is the only thing I found that breaks down NT outcomes into smaller increments than just normal vs. big. It includes a column of "alive and well" outcome by size, which I had to keep going back to, and still do. It's a larger number than other numbers would lead you to believe (like the "5% false positive rate" that is thrown about everywhere) You can find it here:

https://docs.google.com/viewer?a=v&q=cache:uQcGGB6QBkwJ:www.leedsteachinghospitals.com/sites/fetal_medicine_unit/documents/ThickenedNuchalTranslucency.pdf+&hl=en&gl=us&pid=bl&srcid=ADGEESgoorjOkIvqnicJNpdppqnOM0De-VMfTwZA8MeT0vGayBnnFMxefcImtwZS107TvLkYML284-syfGWMvaj8zilr7AVhlE7XwKx7WWtbr5smDBy5zkVgBxLzUBDlHoNVP2Eg9IWP&sig=AHIEtbS_NWhbQThpFhGPxsS0KarE5zVfkg

That page also has a second table (not cited) that outlines risk of cardiac defect by size of NT, also in increments.

Hope that is helpful to others.

[nervous245]

Hi everyone
I am also pleased to have found this site, I am worrying myself crazy and have been for 2 weeks now
My 12 week scanned showed a NT of 2.6mm, low PAPP and HCG levels, puts me at 1.163 risk of downs syndrome, I was low risk for Trisomy 18 and 13,
I went for a CVS last week but my uterus was to tilted so we try again next week,
I would love some advise, I have a healthy 13 month old son, and am praying that this bubs is 100% healthy as I dont think I could go through this again!
Thank you!

[girlie84]

Hi every one I got an NT of 3.3 and combined with bloods I have a 1 in 40 chance of having a baby with ds I'm 27 and going on to have the amino and will get the results jus b4 xmas I'm so worried although as a percentage its only a 2.5 chance.

[nervous245]

Hi there
I had a high risk reading at my 12 week scan yesterday, 2.6mm and 1:16 for Trisomy 21, I am freaking out too, have never dreamt this would happen, what is the CVS like?