Genetic Screening

[pootsen]

Are you have Genetic Screening done? Why or why not? What tests are offered to you and when is it done?

[pootsen]

I chose to do it this time, though I didn't with my first. We do not have any chromosomal abnormalities that run in our families, but I guess I just want to be more prepared this time since my last pregnancy became unexpectedly high-risk. And it's only $99 so I figured why not?

My MW's office only offers the Progenity Innatal testing which screens for trisomy 13/18/21 along with Turner syndrome, Klinefelter syndrome, and XYY/XXX syndrome. I'm also having a test to see if the baby is a carrier for CF.

The blood needs to be drawn after 10w, so I'm going in on Monday.

[grumpycat88]

The only one we are doing is the Quad Screening during 2nd tri. No family issues and we are in our late 20s.

We did the NT + blood test with DS and it took like 45 minutes for them to actually get the measurement they needed because he would not stop moving. We didn't do it this time around (I think I would have needed to go last week or this week). We aren't doing it this time because it was a pain in the ass last time and it wouldn't change our decisions about anything. 

I was "high-ish" risk last time because I went into PTL 3x because my body was not pleased with my VERY active child. Also had "renal colic" because he was sitting on my ureter and again, body was NOT thrilled. He was a monster in utero. I also had low HCG on the quad blood work (I think that was the test, basically DS may have stopped growing in my 3rd tri so they did extra u/s ... turned out not to be anything but lots of extra sneak peeks!).

[Deleted]

We will just be doing the quad screening. We have two healthy kids, no family history of genetic abnormalities, and are both 26.

[mrspiatt]

We're doing all the tests, no family issues, but I'm 37, so it's recommended. My OB mentioned the CF test and said to only do it if I would terminate with a positive result.
To be quite honest I don't think I can say one way or another under what circumstances I would or wouldn't terminate. I think that would have to be a conversation between me and H if an abnormality is found. Am I completely wrong in my logic? Is it better to figure that out first so the emotions don't fuck with me?

[mrspiatt]

Never mind- I answered my question by asking it. My emotions would definitely get in the way, so I think it's a convo H and I will need to have prior to receiving results.

[bostonbaker]

I'm getting my blood draw for the Panorama test tomorrow. I'm 35 and my insurance will cover it 100%, so it was a no brainer for me. I want all of the information as soon as I can get it.

I'm doing Panorama because that's what my OB's office offers, and my doctor said to do the draw any time after 10 weeks, but maybe not exactly at 10w0d, so I figure tomorrow at 10w4d is good.

[izz67]

I'm glad you asked because we're undecided and it's nice to see other opinions. We didn't do it with DD because my OB said there's a good chance at finding false positives and we felt it might make me anxious to find something that wasn't actually anything. On the other hand if something is "wrong" we would rather be prepared and educated before birth. Basically, I have no idea what we will do and need to decide soon.

[bethkate]

I'm not. We've already had genetic karyotyping done and we're not carriers for anything. Plus, the embryo was CCS tested and all of the chromosomes werenormal.

[cnf2013]

We will.

With DD they thought they saw a big pocket of fluid behind her neck at 10 weeks so we got bounced to a genetic counselor and MFM for a CVS. It was such a horrible time, we were told all day all the horrible reasons why our pregnancy was going to fail.

During the NT preceding the CVS they didn't find any fluid, so I chickened out and got harmony instead. Those few weeks from that 10 week ultrasound until we got our results at 13w was gut wrenching and terrible. Thankfully DD is fine and healthy, but now I need to know.

My office does panorama and I'll be getting that done at my May 1st appointment.

[spacedcadet]

I'm still debating. My doc offers the Harmony test and I thought they would recommend it because I am 36 but she was pretty meh about it. Just said I could do it if I want or not. I am leaning toward doing it just so we have as much info as possible but I'm not sure how helpful it will really be.

[peggels24]

We are doing the Panorama testing. I am 41 so it was offered and we accepted. We did it last time with DD as well. No CF testing because DH is not a carrier (even though I am). I'm mostly excited about finding out the sex in the next 2 weeks

[grumpycat88]

Apr 17, 2017 18:52:13 GMT -5 @iheartmyshiba said:

I know we have the NT scan scheduled but I think that's it? We aren't in any high risk categories that qualify us for insurance covered scans so...

My OB recommended the quad screening because there are all kinds of surgeries that can be done for neural tube issues now. Not sure if insurance typically covers it though.

[grumpycat88]

Apr 17, 2017 20:37:06 GMT -5 @iheartmyshiba said:

Apr 17, 2017 20:35:55 GMT -5 grumpycat88 said:

My OB recommended the quad screening because there are all kinds of surgeries that can be done for neural tube issues now. Not sure if insurance typically covers it though.

It that just labs or more? I feel like a newb again.

It's a blood test. So yup, just labs. Looks like it covers some of the same stuff as the NT testing but is generally more accurate. And looks at one additional substance in your blood.

[blabbermouth]

Apr 17, 2017 18:06:29 GMT -5 Miss Killjoy said:

We won't be. Doctors here don't really offer it unless you have a reason to suspect something may be a concern. We are doing IPS, but that's the only standard test. If that comes back with an elevated risk for anything, then they go to NIPS, then amnio if necessary. We didn't have to go past IPS last time, so I'm hopeful it's the same this time around.

Samesies. Although I think my MW said there was something else now, so an amnio is rarely necessary. I figure we'll start with the free one and move on from there. It's just two blood draws at specific times, I did the first one last week. 

[beefinch]

The only test we are doing is the Down syndrome one at the 12 week scan. We had it with DS and it was very low risk. 1 in 25000 or something.

[lgraceh]

I intend to ask about/request it at my OB appointment on the 26th. I want all the information. I'm not sure what tests are offered/available since it's a new practice.

[blabbermouth]

Apr 18, 2017 4:49:00 GMT -5 Miss Killjoy said:

Apr 17, 2017 21:12:36 GMT -5 blabbermouth said:

Samesies. Although I think my MW said there was something else now, so an amnio is rarely necessary. I figure we'll start with the free one and move on from there. It's just two blood draws at specific times, I did the first one last week. 

Did you hear they're changing the NT test? They're phasing out the second blood draw. My OB is still having me do the two but my GP was just going to have me do one.

The test before the amnio is NIPS - non-invasive prenatal screening. Another blood test, I believe. I didn't ask too many questions because I'm hoping not to have to go past the NT.

I didn't hear either. Interesting. Oh, that makes sense, the NIPS before the amnio. So many acronyms! 

[RoLoMa]

We had the panorama done last time and will again this time unless the office has switched to another in the past two years, in which case we will do whatever one they offer. I am AMA (37) and have some high risk issues. I assume I will have blood drawn for it at my appt on 5/5. I'll be about 12w and do look forward to getting to know the sex so early.

[Deleted]

I am doing the NT scan and blood work at 12 weeks. We did the same for DD. If I didn't do the tests I'd spend the rest of my pregnancy wondering if something was wrong, it's just my personality.

[bostonbaker]

Apr 19, 2017 13:21:20 GMT -5 @thatgolfbitch said:

Apr 17, 2017 14:54:00 GMT -5 mrspiatt said:

We're doing all the tests, no family issues, but I'm 37, so it's recommended. My OB mentioned the CF test and said to only do it if I would terminate with a positive result.
To be quite honest I don't think I can say one way or another under what circumstances I would or wouldn't terminate. I think that would have to be a conversation between me and H if an abnormality is found. Am I completely wrong in my logic? Is it better to figure that out first so the emotions don't fuck with me?

Wow she said to terminate with a positive CF result? That is one of the genetic diseases that is easier to manage so that surprises me. I mean, not easy by any means, but typically CF patients live in to their 20s or 30s, especially nowadays.

I read it as the OB said only to do the test if you would terminate in case of a positive, not that the OB recommended termination.

My OB ordered the CF test on my blood draw too which I thought was weird because it's already in my record that I am not a carrier (from my first pregnancy).  But they were already drawing the blood so I guess why not.  (Insert tangent about high health insurance costs here)

[mrspiatt]

Apr 19, 2017 13:32:45 GMT -5 bostonbaker said:

Apr 19, 2017 13:21:20 GMT -5 @thatgolfbitch said:

Wow she said to terminate with a positive CF result? That is one of the genetic diseases that is easier to manage so that surprises me. I mean, not easy by any means, but typically CF patients live in to their 20s or 30s, especially nowadays.

I read it as the OB said only to do the test if you would terminate in case of a positive, not that the OB recommended termination.

My OB ordered the CF test on my blood draw too which I thought was weird because it's already in my record that I am not a carrier (from my first pregnancy).  But they were already drawing the blood so I guess why not.  (Insert tangent about high health insurance costs here)

Correct- she said there is no sense in doing the test if I'm not considering termination. I don't think there is anything that can be done prior to birth and all babies are screened at birth.

[Rogue]

i am getting some test at 13 weeks. i am not even sure which. what i do know is the doctor wants to check for birth defects since i had "uncontrolled" diabetes early on. i wasnt given the choice and the specialists just called to schedule an appointment.

[pootsen]

Apr 20, 2017 11:07:40 GMT -5 Rogue said:

i am getting some test at 13 weeks. i am not even sure which. what i do know is the doctor wants to check for birth defects since i had "uncontrolled" diabetes early on. i wasnt given the choice and the specialists just called to schedule an appointment.

It is your health care. You can advocate for yourself and ask questions. Ultimately it's your decision and you can decline the testing if it's something that you don't want.

[bethkate]

Apr 21, 2017 8:54:49 GMT -5 @catvaughn said:

I got a lot of blood drawn at my 8 week appointment for genetic testing. However, I'm not sure exactly what test it was. I put a lot of faith in my doctor I guess. Anyone have any idea?

I think 8 weeks is early for the harmony-type testing. I wonder if it was to test your chromosomes to see if you're a carrier for anything. Those types of tests can be done at any time.

[bethkate]

Apr 21, 2017 9:02:10 GMT -5 @catvaughn said:

bethkate,Maybe so, I will be sure and ask at my next appointment. As far as I know, I'm not a carrier for anything though and they just asked if we wanted to repeat the bloodwork since we did with dd.

Maybe it was something else, but I think the testing that gives you info about the baby (risk of issues, sex, etc) is usually done around week 11 or so. It definitely could be a type of test I haven't heard of, though!

[grumpycat88]

Apr 21, 2017 8:54:49 GMT -5 @catvaughn said:

I got a lot of blood drawn at my 8 week appointment for genetic testing. However, I'm not sure exactly what test it was. I put a lot of faith in my doctor I guess. Anyone have any idea?

My OB does general blood work ... checks your platelet counts, does a HIV/STD panel etc. You should be able to look it up in your chart if you have online access.

ETA: They can also check if you are a carrier for CF and will check to see if your blood is -/+ (Rh antigen).

[grumpycat88]

Apr 21, 2017 9:34:56 GMT -5 @catvaughn said:

grumpycat88 ,That makes sense. I know I'm rh negative from dd.

They check it every pregnancy. I would definitely call and ask if you think it was more than that. I personally don't know of any other genetic screenings it could have been at 8 weeks. (But I'm not a doctor either ) I was shocked by how much blood they took for just the general blood work (at least 6 tubes). 

[grumpycat88]

Apr 20, 2017 11:18:25 GMT -5 pootsen said:

Apr 20, 2017 11:07:40 GMT -5 Rogue said:

i am getting some test at 13 weeks. i am not even sure which. what i do know is the doctor wants to check for birth defects since i had "uncontrolled" diabetes early on. i wasnt given the choice and the specialists just called to schedule an appointment.

It is your health care. You can advocate for yourself and ask questions. Ultimately it's your decision and you can decline the testing if it's something that you don't want.

+1. I encourage you to ask questions! Also, if you have access to your charts online, to look at them. My OB's office posts all lab results and nurse/doctor notes from my appointments. It's really helpful to look back at it as a reference. 

[peggels24]

Yesterday they drew 8 vials of blood....2 were for genetic testing and 6 for regular blood work. So much blood