Did you have genetic testing done?

[cmp]

I was scheduled for an ultrasound tomorrow afternoon...attempted last week, but baby wouldn't move for a good view...to have measurements, etc. done to check for down syndrome and a variety of other things.

The doctor's office called me this morning and their machine is down, I would have to travel to a different office, which is over an hour from me. It's not possible with work schedules, so I cancelled. Now, I'm freaking out and feeling guilty that I should have just made it work somehow. By next week, I'll be too far along to have the testing done. I did have bloodwork done last week, but I honestly have no idea what exactly that will tell me.

Is genetic testing not as common as I think it is? I'm 32, they aren't too concerned about my age, I just worry so much and now I'm even more stressed about it. How many of you did or did not have anything checked out?

 

[Stacip]

I am 24, and my doctor offered me the genetic testing at 13 weeks. I'm very glad I did it because during my anatomy scan (at 21 weeks) they found choroid plexus cysts on my little guys brain; however because my initial screening at 13 weeks was so low risk, it was immediately deemed a non-issue and I didn't have to go for further (more evasive) testing.

 

[verily]

32 isn't considered "advanced maternal age" so they might not offer if they don't see any warning signs on your scans.

I'm 37, so I'm downright elderly (lol). I expect it to be offered to me along with the nuchal scan, but if not, I plan on asking for it anyway.

 

[Ragnhild]

Hi cmp, im also 32 and my clinic has compulsory testing if youre over 35 so i wouldnt worry about your age. Apart from that, if they took your family history they would tell you if you're high risk and how important the testing is. Fyi, im not going in for the testing and the reasoning might help you decide. First, the basic first level of testing with bloodwork and us only gives you a risk factor and confirms nothing. Two, if there are slightly higher odds, the next step is more invasive and increases the risk of mc. You need to ask yourself if you do get higher odds how will you process that information and if you will go in for invasive testing. And if after that you dont have good news, what will you do? No matter what the risk or odds or whatever, oh and i know we wouldnt terminate so we saw no point opting for the tests. In the end its your decision so do arm yourself with all the info. Gl!

 

[cmp]

I don't have any "problems" in our family histories that we are aware of, which is why I PROBABLY don't have much to worry about, but I stress out about a lot of things.

I would not want to have an amnio done because of the miscarriage risk, which I guess I didn't really think about, so if the testing came back with problems, I would still just spend the entire pregnancy worrying because I wouldn't have the invasive testing done....I didn't consider that, so thank you for mentioning it.

I had some serious health issues a few years ago, and I suppose I'm slightly concerned about any of the medication I was one during that time, but that's probably (hopefully) a stupid thing to worry about.

I'm one of those people that worry about every tiny thing...I just can't help myself. I need to learn to stop stressing so much.

 

[Michellebelle]

I wouldn't worry about not doing testing. I'm having testing done since I'm technically advanced maternal age and will be over 35 when I give birth. if I were any younger, I probably wouldn't have it done.

 

[Scout]

Just for FYI, some of the free cell DNA tests do come back as negative or positive, not a risk ratio, so that would be the choice over invasive testing. For instance, I was 46 when I had daughter and didn't want to risk a miscarriage with invasive testing, but I wanted to know if baby was okay or not because,, even though i'd never terminate based on my personal beliefs, the results would effect my decision regarding the hospital I chose to deliver, and if something were wrong, I'd want my doctors prepared since some things need to be done right after birth. I had the MaterniT21 test, a blood test. The results came back as typical chromosomes. This test is, I think, 99% accurate if you get typical chromosome result and 96% if you get back results indicating a problem.

I did get a risk ratio from my genetic counselor based on age (1:11 for trisomy 13, 18 and 1:17 for trisomy 21) But the blood test gave me a result, not a ratio.

But to your question, I wouldn't worry. You're a spring chicken compared to me! LOL I do know that it's hard not to when you are a natural worrier. I'm a worrier. I would have worried my entire pregnancy had I not had the MaterniT21 test, but like I said, I was much much older, especially when speaking of pregnancy. Best of luck

 

[bobbillina]

I've noticed that not everyone gets it, but for my first appointment at 12 weeks last week it was basically just part of my check up. I got an ultrasound and then a blood draw (6 vials total omg) for genetic testing. I'm only 28 but it seemed like a standard thing that they did, and I didn't specifically ask for it or anything. I'm glad they did it though, because now I get to learn the gender in about a week!

 

[Ragnhild]

Just for FYI, some of the free cell DNA tests do come back as negative or positive, not a risk ratio, so that would be the choice over invasive testing. For instance, I was 46 when I had daughter and didn't want to risk a miscarriage with invasive testing, but I wanted to know if baby was okay or not because,, even though i'd never terminate based on my personal beliefs, the results would effect my decision regarding the hospital I chose to deliver, and if something were wrong, I'd want my doctors prepared since some things need to be done right after birth. I had the MaterniT21 test, a blood test. The results came back as typical chromosomes. This test is, I think, 99% accurate if you get typical chromosome result and 96% if you get back results indicating a problem.

I did get a risk ratio from my genetic counselor based on age (1:11 for trisomy 13, 18 and 1:17 for trisomy 21) But the blood test gave me a result, not a ratio.

But to your question, I wouldn't worry. You're a spring chicken compared to me! LOL I do know that it's hard not to when you are a natural worrier. I'm a worrier. I would have worried my entire pregnancy had I not had the MaterniT21 test, but like I said, I was much much older, especially when speaking of pregnancy. Best of luck

Thanks scout! Didn't know about the free cell tests because they don't offer it here, but it's good information and I will ask my mf more.

 

[Michellebelle]

It sounds like the testing I am having done is the NT scan plus a finger prick test. I think I have the option of doing a panorama or harmony test, but the people I talked to on the phone when scheduling and billing weren't too helpful and told me I'd have to talk to the nurse at my appointment.

 

[cmp]

I wish my blood test told me whether I was having a boy or girl!
My cousin is 41ish and she had the MaterniT21 test done, which I thought about finding a doctor that would do that for me, but she said she had to have the ultrasound to go along with it. I don't understand that since it's a simple blood test.
I suppose I'll just go without and worry the least amount that I can.

 

[MindUtopia]

No, I didn't have any of that last time nor will I this time (the nuchal scan or any sort of genetic testing like the harmony test or others). If it's a factor in what you would decide to do in terms of continuing with the pregnancy, then I would find a way to have it done. For us, it was never and issue and we wouldn't change our decision no matter what the results were, so we've never had it done. I was 31 last time and I'm 36 this time. But if you really feel like you need to know that information than I would find a way to have it done.

 

[AshNAmber]

That's the only reason I want it to find out the gender of our baby. They highly recommended I did it because I'm 33 and BF sister has a very very mild case spina bifia. Once I heard I can find out the sex I was down for it. Results will not change the love we will have for our little one. All I can do is hope and pray for a perfectly healthy baby.

 

[DeuceMom]

deleted

 

[spunky84]

I did. I'm 32 (also had it done at 30). It was just offered (no risks or anything) so I did. Even though I'm not high risk, I still like to know just because if there is something, I want to be able to try to prepare even if just mentally and/or having a support system in place.