nuchal translucency thickness

hock1 · Dec 2, 2004

i hope i have it right...i just had my ultrasound at 20w4d and they told me that there is a possibility my baby has downs syndrome. i have to have an amniocentisis...could there be another reason for this? they said there was a thickness of the back of the head/neck and the kidneys. they wouldn't tell me anymore and want me to wait until i see the specialist. i am just looking for any inofrmation b/c i am confused and do not understand what is going on!

i did a brief google search on nuchal translucency thickness. it's a screening test used to spot downs or heart defects. a case study had 280 pt with abnormal results, ater amnio was performed only 40 actually had a birth defect. hopefully this gives you some hope. good luck to you and your baby.

cabbage patch rn · Dec 3, 2004

I know this is not scientific, but a good friend of mine actually had the same thing to occur and the baby turned out fine. There is really no way to predict the outcome of your procedure. Just try to focus on something else until you get actual results of the amnio. Easier said than done I know, but worrying and stress is not good for you or the baby. Hope everything turns out okay for you. Let us know what happens.

Burnt Out, ASN, RN · Dec 3, 2004

From what I understand (and what I was told by my ob/gyn), the NT exam should be done in the first trimester only. I would ask the peri or maternal fetal specialist to do another scan before you have an amnio. Also, have you had a serum AFP done? I hope everything is ok!

Here is some links:

http://www.perinatalcare.com/PSampleTesting.html

To see this, you will need to have Adobe downloaded: http://pro.gyneweb.fr/jmb/gyneweb-echo/aneuplo/Souka.pdf

http://www.vidyya.com/archives/0912_5.htm

http://www.ds-health.com/prenatal.htm

Chevelle · Dec 7, 2004

Thank you all very much! I had no idea what to do because nobody would tell me anything and I am just so confused!

They made my appointment for this friday the 10th. I will have a level two ultrasound first, followed by genetic counseling and then they have an amnio scheduled if needed.

Thanks again everyone!

HappyNurse2005, RN · Dec 7, 2004

i had my actual nuchal translucency scan in first trimester. i was told it had to be done by 14w gestation. but, i guess they could just look during the 20w u/s but i dont know how accurate it would be.

like all screening tests, there are benefits and risks. you could find out early about a problem wiht your baby or you could just freak out and have nothing be wrong.

oh the benefits of technology!

rose

HappyNurse2005, RN · Dec 7, 2004

hey....test

alphafe · Dec 8, 2004

This concerns false positives and a strange experience I had when pregnant.

I was a great, compliant healthy patient. When it came time for the AFP test I had this **gut** feeling that I would get a false positive and worry for the duration of my pregnancy. I turned down the test. And I'm SO glad I did -- I have the most beautiful 15 year old!

What I'm trying to say is that I think our instincts are very finely tuned -- for some of us a lot of the time, but VERY fine tuned in pregnancy.

Has anyone else every refused a test or procedure due to a gut feeling, OB/GYN or otherwise? I find this really interesting.

allnurses Guide · Dec 8, 2004

I had a positive AFP test for Down's Syndrome ...and then I did some research and found out it had NOTHING to do with what they found in my blood but they simply factored in my age . .

43 years old must equal Down's Syndrome. :nono: AFP test is not definitive.

I had the diagnostic sono and the amnio and everything was completely normal. If I had it to do over again, I would not do the amnio. The outcome would not have changed anything - we would continue to have a baby.

Sometimes medicine goes overboard. And tests are deceiving.

You've gotten some good advice here.

Steph

BETSRN · Dec 8, 2004

While there are markers for Downs that can be seen (or appear to be seen) on ultrasound, the only definitive diagnosis for this is an amniocentesis. That is your genetic workup that is completely accurate. Wait until you have the results of the amnio before getting yourself all worked up. I know that's a scary potential, but I have seen ultrasound be wrong: very wrong. The amnio will give you the answer.

drews578 · Dec 8, 2004

I am a sonographer and it is true that it should be done around 14 weeks. I am not certified for doing the nuchal fold testing so that is the reason for being a little vague. in fact, I dislike OB the most of all types of Sonography becasue too many patients think I am there to entertain them and dont understand that is being done for medical reasons but that is another discussion... anyways, I have seen a lot of Sonographers who "wing it" even though they have not been specifically trained. It is scary when people in any profession know just enough to be dangerous. Sonography is completely operator dependant. It is not like an other Radiology modality where most of the responsibility is on the Radiologist.

I personally would not take the risk of amnio because we would have the baby regardless.

Sometimes too much knowlege is a bad thing.

Best of luck....

Dawn27 · Dec 13, 2004

Chevelle this must be a worrying time for you although I hope by now you have some answers.

I thought I would try to explain there is a difference between measurement of the nuchal pad and measurement of nuchal translucency.

Nuchal translucency measurement should be undertaken between 10-14 weeks gestation.

Thickened nuchal pad the is a "soft marker" ( an ultrasound finding at 18-24 weeks associated with an increased risk of anomaly) for Down syndrome and together with the other marker dilated renal pelvis indicate the need to offer further diagnostic testing, both of these markers can be incidental and in no way confirm any problem.