Test for Down's Syndrome?

beinfamous · November 2014

Hey guys I thought this was curious. One of my Midwife's partners offered me a Down Syndrome test that is non invasive. I just thought it was curious that she offered this to me since I'm not 35 yet (33 here). I agreed to it mostly because it's non-invasive and I'll get to see baby again in a ultrasound around 11-12 weeks? Has anyone done this or is anyone going to do this?

leenziepops · November 2014

I had the NT scan and bloodwork at 12 weeks just on Wednesday. The scan and blood work will give 90% accuracy for particular genetic disorders. I believe this is quite standard practice regardless of age. Im 30. It's definitely fun getting this u/s because it will be a chance to see your baby and he will have actual human shape. Very exciting! Get ready to cry like i did!

beinfamous · November 2014

Thanks, I couldn't remember what it was called. Does insurance usually cover this test?

leenziepops · November 2014

I'm from Australia. I had to pay $150 for scan only and I will get back $50 from the govt. Blood tests are free.

thay33 · November 2014

I'm only 21 and my doctor suggested it. & my insurance covered most of it. I only had to pay a copay

gabriellamason93 · November 2014

I'm 21 and I'll be getting this done

I believe high risk is 1-100 and then to follow that in England we have a test that's 100% accurate but can cause miscarriage. That's how my midwife explained it any how

AMcClell · November 2014

I'm 25 and I'll be getting the scan and bloodwork on Wednesday. My husband and I decided that it could help us prepare better for the baby. We just have to pay to copay and it's an additional opportunity to see the baby, so why not?

BabyList · November 2014

Nt scan is offered to everyone at my OB's office

Trampslikeus · November 2014

Keep in mind its not JUST for Downs. So its a bit misleading to refer to it as the Downs Test. Not snarking at you, just have seen it referred to that way several times now.

Just want to put that out there since plenty of us are comfortable with the idea of parenting a child with Downs, but still getting this test done because of Trisomy 18, which is not really compatible with life outside the uterus and results in stillbirth 50% of the time. A very different prognosis than Downs.

beckynsean11 · November 2014

I was offered the Harmony test which tests for trisomies 21, 18, & 13. Since we're not doing a NT scan, I opted for it. I'm not concerned with Down syndrome, 18 is the biggie. I'm having a cerclage done in a few weeks, we need to know if there are any life-threatening issues for the baby.

darvo · November 2014

I'm also not sure about getting the test. I have to figure it out by Thursday when I have a meeting with my doctor. I know that the blood test is covered by my insurance, not sure about the others. It's kind of a hard decision! I'm a bit of a worrier and I'm not sure which would make me worry less -- I guess it depends on the outcome of the test! Good luck in making your decision!

carolyngrace · November 2014

I feel like I am one of the only women here not getting any genetic testing done... It would be another doctor's visit, another co-pay, and seems like more hassle than it's worth - being that I'm young and very low-risk all around. No other moms I know IRL have had it done...

dkleid · November 2014

I just had it done. Insurance paid for it. It's an ultrasound and some bloodwork. Nothing I NV as I've at all. I'm not high risk at all but if something g-dforbid is wrong I would rather know ahead of time so I can prepare instead of being thrown with every thing at once.

walls0788 · November 2014

I just had mine and also had it with my first. They do a sonogram to measure the back of the baby's neck. As long as they can get a good picture you shouldn't have to worry about false positives. They'll also do blood work, my sonogram tech was very nice and explained what she was doing and reassured me the measurements looked good! You can google NT scan for pregnancy and see sample sonograms of what they're measuring. It's a huge difference between a child with Down syndrome and a child without.

mrshaynes1216 · November 2014

I'm getting mine done in 2 weeks and can't wait to see the baby.

courtyowl427 · November 2014

@carloyngrace, you're not the only one opting out. We are not doing the NT scan either. The results won't change anything for me or how we handle things. I get that others want to be prepared if there is something wrong, but I want to enjoy this pregnancy for all its worth and not stress about what ifs. Most women I know IRL have/are not getting this done. It does seem like we are in the minority here.

Trampslikeus · November 2014

Well to be fair, when you say no one you know in real life is doing it, no one in my real life knows I'm doing it... Not exactly something you chat about over coffee :P

courtyowl427 · November 2014

Well, for me it is something you talk about. I've asked all the moms close to me (sister in law, sister, coworkers) what they did and why. I've gotten pretty honest feedback. These women are my best resource as a FTM.

HMack4742 · November 2014

Our last baby had Trisomy 13 so we are going for the testing next week.
It won't affect our decision to carry as long as possible however this time we can prepare ourselves.
I live in Canada so it's covered by health care for us

carolyngrace · November 2014

Trampslikeus said:

Well to be fair, when you say no one you know in real life is doing it, no one in my real life knows I'm doing it... Not exactly something you chat about over coffee :P

That's true. I know for sure about a few, the others I'm just assuming so I may be wrong.

Good luck to everyone getting baby tested.

littlechemist · November 2014

courtyowl427 said:
@carloyngrace, you're not the only one opting out. We are not doing the NT scan either. The results won't change anything for me or how we handle things. I get that others want to be prepared if there is something wrong, but I want to enjoy this pregnancy for all its worth and not stress about what ifs. Most women I know IRL have/are not getting this done. It does seem like we are in the minority here.

I'm in the same boat... although the only thing I said to my OB is that I wasn't interested in the invasive genetic tests, and then she never mentioned OE asked about any of the tests after that. It was really confusing - they handed me a pamphlet at one appointment, said "Read this," and then didn't really explain anything about them at all.

Anyway, we aren't doing any tests or scans. I'm in the mindset of "everything is fine until something happens to suggest otherwise" - I'd drive myself crazy thinking of the what ifs!

Best of luck to everyone doing the testing.

leenziepops · November 2014

skiergal38 said:

My midwife told us that it's an option and I'm 28, so my chances are fairly low. My husband and I decided that I should get the test but now I'm worried about false positives. Does anyone know how the results are given? Is it like you have a 1/900 chance but for your age group 1/1000 is typical?

My friend was categorized as high risk and her numbers were something like Edwards 1/160 and Down's 1/120. She went for genetic counseling and opted to do a CVS for 100% accurate results.

thursdaychick · November 2014

I am very back and forth on this. I don't want the extra worry if something is wrong, since there is false negatives. I also have to go to a different city to get it done, which is a four hour drive. I really want to see the baby again though!

Trampslikeus · November 2014

@thursdaychick Dont do it just to see the baby. There are false positives in the initial test, but the follow up testing is very accurate. Like I said before, even if you would carry a Downs pregnancy, there are other chromosomal abnormalities that are not compatible with life that can be picked by this test. My feeling is even if I decided to carry to term, I would want to know ASAP if my baby would never leave the hospital.

DaveandKim08 · November 2014

This was a hard one for us too. We slept on it many nights, I talked to some trusted friends that have gone through the decision already...we decided to test. Our logic was, if it's down syndrome we will still keep it since they can't really tell us the severity. But the trisomy 13 or 18, I am not sure I can go through with this pregnancy any longer knowing I have one of them. The false negatives do scare me but I am trusting modern medicine here and also I don't want to wonder if there is something maybe wrong for the next 6 months. It's a personal choice.

leenziepops · November 2014

The only way to find out with 100% accuracy is the CVS but that is so invasive and introduces a risk factor of miscarriage (not sure of the numbers here). It is annoying that the best we can get from the non-invasive methods via NT Scan and blood work is 90% accurate. I agree with PP, it's a very personal choice on what to do if you do receive positive tests. It's also something my DH and I have agreed to not discuss with anyone period.

erbear84 · November 2014

Seeing how both of us have a history of Down's on both sides of our families in pregnancies under 35, I want to test. I'm waiting to see if my insurance approves NIPT before scheduling a NT scan, which I know they cover.

holliberry28 · November 2014

I'm currently having to fight to get the CVS. I guess I'm in the minority who would choose not to continue with the pregnancy if they found a chromosomal abnormality. I treated too many children with Down Syndrome who couldn't eat by mouth, had difficulty walking and very low cognition, so you never know the severity; each child is different.

jesscmv · December 2014

carolyngrace said:
I feel like I am one of the only women here not getting any genetic testing done... It would be another doctor's visit, another co-pay, and seems like more hassle than it's worth - being that I'm young and very low-risk all around. No other moms I know IRL have had it done...

I'm not getting any of this extra testing done either and feel kind of out of the loop for not doing it. No matter what the results would be we would still be in the same boat.

I guess it could help you prepare for it though. Good luck everyone with all the testing!

leenziepops · December 2014

@erbear84 Wishing you all the best with the results of your tests. I feel stressed and have no histories in either family so I can't imagine how you are feeling. Best of health you and your LO.

beinfamous · December 2014

I'm really not doing it just to see the baby again. If there was something wrong I would like to know and would like to have the option to decide whether or not to continue with the pregnancy.

I already have a son that is special needs and I don't think I can handle another. Granted his genetic problem has caused him to have physical problems not mental problems.

ldg1979 · December 2014

I read that the bloodwork taken for this can also be tested to find out the sex of the baby.

I'm in Canada and have my bloodwork next week. Going to ask the dr about this bc if it's not an additional cost I think I'm going to have them do the testing for the sex if the baby as well.

Trampslikeus · December 2014

Just FYI, less than 5% of chromosomal abnormalities are the genetic component that "run in families". The vast vast majority are completely random mutations that cannot be predicted by family history at all. So unless you've had genetic counseling done that identified the very rare hereditary marker for downs, having someone in your family with it is not cause for additional worry.

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