So my NT scan came back slightly high, as did my bloodwork. My doctor said I can't have both downs and trisomy issues, so she's concerned it could be Turners Syndroms. So she wants me to have a Level II ultrasound this week to check on the nuchal fold again. I also have to meet with a genetic counselor
Anyone know what to expect?
persimmon / 1205 posts
I had a level 2 ultrasound and genetic counseling as well, but it was because of my age and not due to any specific concern. The ultrasound was fairly normal, except they look at everything up close and take a ton of measurements. You can't really tell what you are looking at and they measure all sorts of things. So just expect a long ultrasound.
For the genetic counseling we had to fill out a questionnaire, and then met with a very nice woman who asked questions and then went over what our risk factors were and helped us decide if we wanted to proceed to an amnio. Because everything came back fine and our only risk factor was my age, we opted against it and LO is fine and healthy.
Think of this as an information gathering session and the genetic counselor will walk you through the risks and concerns they have, and then you and your hubby can decide if you want to proceed with an amnio or the CVS test, which are the only things that will tell you for certain if there are any genetic disorders.
I am sending you my best and hoping that this is just a false alarm.
wonderful grape / 20453 posts
Thank you for the info. Information-gathering, I like it.
My doc said if the fold shrinks, it's ok. If it stays the same or gets bigger, we'd have to do an amnio. I think i'm past the point for a CVS, unfortunately.
pomelo / 5073 posts
@blackbird: Yikes! Good thoughts headed your way. We were supposed to do a Level 2 ultrasound, but the day before we went is where we found out we had already miscarried. Our situation was totally different because it was my 'levels' that were high to warrant the ultrasound.
Keep us updated! Good thoughts to you and your baby!!!!
GOLD / squash / 13576 posts
I had a CVS test because we were at risk for down syndrome. If you have any questions about CVS, please let me know. I could be wrong but there might be a slight window to get it if you do it right away. If you do have to do amnio or CVS go to the best doctor around, mine was excellent! It's scary but knowing you are in capable hands makes you feel better.
blogger / pineapple / 12381 posts
I'm a little confused about your statement that it can't be downs and trisomy. Downs is a trisomy as is trisomy 18. Usually the risk of one or the other of those is higher... So for us, the blood work came back high and we went straight to CVS to find normal chromosomes.
"Fetuses with Turner syndrome have been associated with increased nuchal translucency, lower maternal serum pregnancy-assisted plasma protein-A (PAPP-A) levels, and normal maternal serum free beta-hCG levels in the first trimester". Turner syndrome happens in girls who only have one X chromosome. Many are developmentally normal but short in stature. Some have developmental delay.
"Down syndrome pregnancies have lower levels of AFP and estriol, so their levels would be below the average, and therefore less than 1.0 MOM. Likewise, hCG in a Down syndrome pregnancy would be greater than 1.0 MoM" They have a greater nuchal thickness.
Low PAPP-A is also associated with trisomy 18.
I'm not trying to project anything, but rather give you some information to help you look at your own labs. Of course the genetic counselor and your OB are your best go to resources.
Remember to take one step at a time and not get too far ahead of yourself with what ifs. Like I said, our proteins were way off but things turned out fine.
Please keep us posted and I'm sending healthy baby thoughts your way.
pear / 1698 posts
Ask your doctor about the MaterniT21 Test! It's less invasive then an amnio or CVS. We had a 1 in 35 risk of downs after our quad screen and we elected to have the materniT21 done instead of the amnio. It was just a blood test so no risk to the baby and it's supposed to be pretty accurate. It took us about two weeks to get the results which came back negative.
wonderful grape / 20453 posts
I was also confused by that, mrs jacks. I wasn't sure which other trisomy she was referring to. I plan on calling today to get the actual numbers. I'm assuming my Papp-a is low but I really need to call.
I'll ask about the other blood test! Especially of its very accurate. I'm currently leading towards the amnio to be sure, though
pear / 1965 posts
Good luck and keep us UTD. I did Genetic counseling and it was just a lot of family medical questions and infotmation of chances etc...
blogger / pineapple / 12381 posts
@blackbird: BTW if you really are 13 weeks, they can still do CVS, I think. That's when I did mine! It gave me such peace of mind.
GOLD / squash / 13576 posts
How did your meeting go? I saw in a previous post you ended up getting CVS. My thoughts and prayers are with you, waiting for test results is so stressful.
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