I think that's what it is called... testing for risk of neural tube defects, trisomy 18, and Down Syndrome. I'm just trying to process my results and put my mind at ease. This is my first pregnancy. My doc said the results "may" be abnormal but really, it isn't bad at all.
Neural tube defect risk is standard: 1 in 1000.
Trisomy 18 risk is standard: 1 in 100.
Down Syndrome relative risk is increased based solely on maternal age: 1 in 237. (Which I knew it would be. I am 36.) But based on the blood test, it indicated a reduced risk of the standard: 35+ year olds have a 1 in 237 risk. Make sense?
So these are really the best results I could have asked for, right? Just looking for other people's experiences processing the test results. I know it's just a risk assessment.
I think I just keep getting hung up on "The gestational age needs to be confirmed, (genetic counseling regarding the risks and benefits of amniocentesis is recommended.)" First, there is absolutely no question on the gestational age... which I'm guessing could affect the lab understanding the results? So is it just that because of my age, my doc should talk to me about the benefits/risks and NOT that my doc should encourage me to get an amnio? (He isn't pushing either way. We'll talk more at my next appointment in 12 days.) Ugh, I struggle with general anxiety (being currently treated) so I'm trying to balance my runaway thoughts of worst-case scenario with wanting to know sooner than later so I could mentally prepare for any issues. I mean, there are other non-invasive ways to look for Down Syndrome, right? What about the neural tube defects and Trisomy 18?
Yes, there are other non-invasive ways of testing for trisomies. You can look up cell-free fetal DNA testing - it's also a blood draw. It doesn't sound like your screen showed an elevated risk, though. Your doc might be willing to do the other blood test just based on your age if you ask for it.
I am not sure about alternative neural tube defect testing options.
Post by estrellita on Sept 17, 2014 17:42:48 GMT -5
I'm doing the quad screen (blood test) and I'll probably get those results at my next appointment, so not a lot of experience here. However, at my initial appointment, the NP explained that since I wasn't at risk for much of anything, some of these tests may give me a "false positive" or make me worry more than necessary, so I decided against most of them. I think it's a good thing to remember. Try not to read too much into the results, even if they are slightly abnormal. The risk is still pretty small either way. I think there is additional testing that can be done if you want though. I don't have any info on it, but I'm sure it's out there.
Wait, are these the results of your Harmony/MaterniT21 type of blood tests? Or are these from the blood draw at the same appointment as your NT scan?
I had both the Harmony test (the blood draw) and the NT scan to check for everything you mentioned. I am 32 but I had a m/c that was caused by a chromosomal abnormality last year. My OB said the Harmony test could help me put my mind at ease with this pregnancy. I would discuss getting the blood test done if it wasn't already offered to you. Since you are 36, I am guessing they already did offer it.
I don't think I had an NT scan. :/ I did have an ultrasound at 10w2d. I had the most recent blood test at 16w. I think the NT is done between 11-14 weeks? This is the first I've ever heard of it. I did not have the Harmony/MaterniT21 test. I will be asking my doc for it at my next appointment.
I was reading this and maybe it's because my doc is a rural doctor/OB and the hospital where the ultrasound is done is TINY.
"The NT scan is now widely available, and it's offered to all pregnant women in the first trimester. But because the NT scan requires special training and equipment, it may not be available in many smaller institutions."