Genetic testing and NT scan

[JoeLies]

The NT scan is just a set of probabilities based on your age and your measurements. So if you're xx years old, you may start at 1 in 800 chance of DS (for example), then based on your scan, that probability goes up or down. It's not a positive or negative, really it's used as in indicator for whether you require additional testing, like CVS or amnio (which carry some level of risk).

That said, the blood tests are also probabilities rather than a positive/negative. However as the genetic counselor told us, they tend to be more reliable, hence commonly referring to the results as positive or negative.

Aside for thinking about all the possible things that could be wrong, I actually really enjoyed talking to the genetic counselor. The way the blood tests actually work is fascinating to me.


ETA: My practice orders the NT scan unless you proactively decline, then the visit includes a meeting with the genetic counselor.

[sosayweall]

I declined last time and will decline again the sequential(blood work and NT scan)and quad screen. I don't meet the criteria for the maternit21 or other similar tests, but I would do that. The false positive rate is higher than I am comfortable with with the sequential screen or quad screen and I don't want to cause myself anxiety. I also don't want to do an amnio based on those results.

[jags8]

DH and I opted out of all genetic testing and/or screenings. To start, the only things that run in my family are high cholesterol and bad knees, so we didn't have any pressing concerns.

We would not choose to terminate this pregnancy if there were defects (unless they were life-threatening for me or the fetus). I do not place any judgement on anyone who would choose to terminate, this is just our personal decision.

Also, I know some people would prefer to know ahead of time if there are any defects/abnormalities so that they can prepare, but I would prefer not to know before birth. I know I would spend the rest of my pregnancy worrying about how we won't have a "normal" life.

[Deleted]

Would it matter to you? With DD we didn't worry about it and declined all testing but now that we have DD it might have made a difference in our decisions.

Unfortunately we're pretty late for when I had hoped to do Counsyl, but I still might ask about it since DH is possibly a carrier of CF since we know his brother is.

[mrsk23]

We opted out. For us being young and not having any genetic history of conditions it didn't really seem worth it for us. Also, we wouldn't do anything different if they found something. I feel like we made the right choice for us, but can totally see where others would want more information!

Edit: Typos

[None]

We didn't do it. I think it would cause me more stress.
I have had previous genetic testing done on myself for breast cancer. During that process I learned a bunch about genetic testing.
It's a door I felt I just didn't want to open. I don't want a non answer answer.

[okiemama]

In my two previous pregnancies I didn't have any testing done, so I don't think my doctor is even going to offer. (I don't think she did with my second either). I got some pamphlets on the first visit in a goodie bag thing and I think I'd have to ask if I wanted to pursue any. I'm not sure if this is more a case of my doctor knowing I'm not interested or if it's just not the norm at the practice. It hasn't been mentioned at all this pregnancy. I'm fine with that.

[Courtniko]

We declined last time but we are doing it this time. I am AMA this time around. I am a huge planner, especially already having a kid, if we needed to deal with something extra I would rather research now then when I have 2 kids. Like they say to read all the parenting books while you are pregnant because once the kid is here you won't have time.
Also, I REALLY want to know the sex

[JoeLies]

Sept 29, 2015 8:58:17 GMT -5 Courtniko said:

We declined last time but we are doing it this time. I am AMA this time around. I am a huge planner, especially already having a kid, if we needed to deal with something extra I would rather research now then when I have 2 kids. Like they say to read all the parenting books while you are pregnant because once the kid is here you won't have time.
Also, I REALLY want to know the sex

This is us. Around here, the quality of special education differs wildly by school district and even by individual schools, which are assigned solely based on where you live. My MIL is a special ed teacher at the elementary school level and having the best resources available at a young age can make life so much easier.

Plus child proofing as we went with one perfectly healthy kid was challenging enough, forget with 2 kids and special considerations. I'd want as much forewarning as possible. Type A all the way.

[Deleted]

Sept 29, 2015 8:32:03 GMT -5 heartbot said:

Sept 28, 2015 18:10:13 GMT -5 buttercup said:

My sister was AMA with her daughter when I was pregnant with D. She was pretty stressed by the results of a test and everything turned out well.

At our anatomy scan, something popped up that indicated a high risk of a genetic disorder, and we were initially put on a short timeline for amnio (which comes with a fairly high risk of miscarriage) and abortion. However, because I'd had NT testing, we were able to use those results to get a better handle on her actual risk. DD's risk went from like 1 in 12 based on a single congenital defect to 1 in over 2000 based on everything together. We skipped the amnio and the abortion, and ended up having a healthy baby. I think it's kind of a misconception that genetic testing is only there to tell you if something is wrong. It can also help you determine if something is actually fine and whether you should pursue certain treatment.

That's a really helpful way to look at it too. With DD they saw a calcium deposit in her heart during the A/S and it would have probably been less stressful had we done the NT scan and known we were already at really low risk. 

This time we did NT, got all the results from the blood work and everything there looks good. I've 100% decided we need to do the Counsyl testing asap because it would totally affect DH's job if we had a LO with CF. I hadn't thought about what changes would occur with DH's job until today and now I feel like we really need to get it done.

[MissMusic]

I think you are talking about the Harmony test?

We did it. I'd rather know than not know so I can plan. I want to know what I'm in for. Age, genetics, and other things all played into the decision. Our insurance sucks and it wasn't covered, but I think it was $110 OOP and for us, its worth it.