Nuchal translucency U/S.....please read and share

[Karimelo17]

Hello,

Last week I was given the news that I have a 1/32 possibility that my baby has Down syndrome. My initial reaction was tears rolling down my face and just couldn't stop. I felt so many emotions and I'm still trying to understand how these screenings work. They gave those possibilities due to the measurement of the nuchal translucency from the U/S and my first trimester blood work. I am scheduled to see a genetics counselor today which I'm starting to feel very anxious and nervous about. I've read a lot of false positives and babies come out just fine. I would love to hear if you have or heard of a similar story. I don't know what was the measurement during the U/S or how my blood work was because I was in a complete shock that I couldn't ask or say anything. Thank you.

 

[Scarlett2]

My friend was given a 1:3 risk. She was actually sent for a specialist scan because she opted not to have invasive testing. This was to check, I think, for related health issues. (Many downs children also have heart issues for example). Everything was fine in this scan but obviously she spent her pregnancy worrying. Her little boy was perfect. Obviously he looked absolutely fine at birth, but they tested him just after he was born and he didn' have downs.

I know it is not much comfort but it is still only 1 in 32. 31 women would have a baby without downs.

I hope this helps and I hope your appointment went well.

 

[zmzerbe]

With my son my chances of DS were elevated but I never received a NT scan so they found that out at the 20 week scan. At that point in my pregnancy, the only thing I could do to get more answers would be an amniocentesis which is very invasive and has a higher risk of miscarriage than my son had for DS.

This time around I am currently 15 weeks and had the NT scan. My chances for DS were given to me as 1/45, but my options seem to be a little bit different this time around. Now they have something called Cell Free DNA testing which basically collects a blood sample from mom and can look at the baby's chromosomes. This will give a better idea of the chances of DS. From there if your chances are still high I believe you have other symptoms as well, but I've been told that the cell free dna testing is more reliable. Plus you can find out baby's gender.

 

[Eleonora]

I also know someone who got the bad news of a 1:3 risk and just went with it...her baby turned out fine. Your ratio is ten times better so it is very likely that your child has no chromosomal abnormality. It is wrong to think of it as a positive result, it just puts you in a category of higher risk. These days there is another kind of test that you definitely want to ask about which is called a non-invasive prenatal test (marketed under names like Panorama) that examines a blood sample from the mother to sort out fragments of fetal dna and try to identify chromosomal abnormalities. I believe those are not perfectly reliable when it comes to positive results but that a negative result almost definitely means your child has no problem. Only if that blood test showed high risk would you move on to amniocentesis or another invasive technique.
It is too early to panic! I hope the genetic counselor can put things in perspective. Thinking of you.

 

[mac1979]

Think about it this way, 1\32 chance is 3% chance of your baby having down syndrome, which is a 97% chance your baby doesn't. Most likely you have nothing to worry about

 

[Scout]

With daughter, I had a 1:11 risk for trisomy 18 and 13(both typically fatal) and a 1:17 for down syndrome. I didn't want to risk miscarriage, so I opted for the blood test call the MaterniT21. It's non invasive and tests the fetal DNA for those abnormalities. My genetic counselor is the one who told me about it. Good luck

 

[shellgirl]

With my last pregnancy, I was given a 1:10 chance of Down's for the first and 2nd trimester screening. I was terrified because my original number had been something like 1:1100, but got worse after the bloodwork. They had just come out with the Mat21 test and offered it to me, but it was going to take 2 weeks to get the results and I didn't want to wait that long. I opted for an amnio and my daughter was perfectly healthy. Those screening tests are very inaccurate and have a very high false positive rate. I know exactly how you are feeling right now and it is the absolute worst. I'm so sorry you are going through this, but please try to take some comfort in knowing that the majority of the time these tests send us into a panic over nothing. I went straight to the Panorama test (same as Mat21) this time at 10 weeks to avoid the whole thing this time.

 

[Scarlett2]

Just to add .. I'm not sure where you are but the testing that the ladies are referring to is not available on the NHS if you are in the UK. You can get it privately, it is often called the Harmony test over here.

 

[Fezzle]

I just went through something similar- I had my NT screening test last month and it came back at a 1 in 76 chance of a chromosomal issue, so 'high risk' and a 'positive screen'. We decided to do the Harmony test (non-invasive blood test plus scan) and all came back as low risk. In the weeks that we had to wait for the Harmony appointment (1 week) and then the results (10 days), the things that kept us sane was knowing that there was still over a 98% chance all was fine, and also I knew that the risk results were raised due to my age (I'll be 40 at term) and I knew my NT measurement from the scan was fine (1.8/1.9). If we have another one, I'm going straight to the Harmony test, even though it was private and expensive, because I'll be even older so my risk will automatically be likely high risk no matter what the NT measurement and blood tests show.

I have a friend who got a 1:3 chance too and the Harmony test showed that all was ok with the chromosomes. They still though there might be a heart issue, but the baby was born recently and all is ok.

 

[Karimelo17]

Thank you! I overwhelmed myself so much on the day I was given my results. It took me like 1-2 to start feeling a little bit of ease. I wanted to keep calm until the day of my appt. I felt more at ease with the counselor and I opted for the blood test. I will be receiving my results next week. My Birthday is tomorrow and I feel 50/50 about enjoying my day thinking that I could either get great news next week or bad. But thank you for sharing.

 

[Marumi]

I did not get the test for that reason. The chances are very small and even if baby should have down syndrome they can still live a wonderful life.