Talk to me about genetic testing

Uptowngirl2009 · October 2013

So we had our confirmation appointment today. I took a urine pregnancy test (still positive :-D )and then the doctor examined me. He explained about the various appointments and tests that I will have to have. He mentioned about the genetic testing in the first trimester and went into depth about how it can give false positives but if it is positive then I have to go see another doctor who will do a scan and then the next step could be an amnio. He explained everything so fast that my head was spinning. This is not my normal doctor that I will be seeing...he was out on vacation this week. Our regular doctor explains everything in detail and makes sure that we understand it all.

So I know a lot of ladies decline the genetic testing. Isn't that because the scan later on in the pregnancy can pick up any of the problems that might be shown on the first trimester testing? Maybe I'm misunderstanding it all. I have my next appointment on November 11th with the "nurse educator" and I'm sure I'll be able to ask more questions and we can make a decision then.

Uptowngirl2009 · October 2013

I was just doing some reading on Baby Center's website about this. I guess the genetic testing is related to the NT scan? Like the draw blood work plus do the scan between 11-14 weeks? I guess it might be something I need to call my insurance about to see if they will cover it or not. I would think it would be covered.

sparklingdiamond · October 2013

Yes, the NT scan and the bloodwork are the first trimester screening. Then there is more bloodwork in the second trimester that they combine with the first trimester results, if I am not mistaken. I would call your insurance and see if it is covered. All of the testing is optional though, so you don't have to do it. It gives you a ratio on how likely you are to have a baby with Down's and two other genetic issues that I can't remember at the moment.

We were going to skip it, but DH has a son with multiple issues, so our doctor highly suggested we get it done.

brij2006 · October 2013

I haven't done too much research on it yet, but I believe it's the NT scan you're talking about.

H and I have decided that we will opt out of it. Unless our Dr feels we should really have it done.

ream02 · October 2013

@teacherlady79 I knew that they did the NT scan between those dates, but since they said I was measuring ahead by 8 days at 14w1d at my NT scan should I be concerned that it might of been a couple days late with the measurements?

PinkinProvence · October 2013

There are several different kinds of genetic testing. It sounds like your doc was talking about the NT scan. I think your doc did not explain it to you correctly though. You will have blood work taken and this will be combined with measurements taken during an US in your 11-13 week. The results will be combined, and you will receive a ratio of how likely it is for your baby to have Down's Syndrome and 2 other chromosomal diseases (trisomy). It is not positive or negative. It is a probability. Even a woman with a score of 1/25 is not "positive" but just at an increased risk. The score will be something like 1/16,000 or 1/85, etc. If the number shows that you are at a higher risk than the average woman your age, you will be sent for more definitive testing like an amnio or CVS, which can tell you for sure if your baby has one of the three disorders.

There are other types of genetic testing as well. We had the Counsyl genetic testing too, which is just a blood test that tells you whether you are a carried for 100 different genetic orders - some are pretty benign like fructose intolerant or deadly. I think Harmony and Materniti-21 are 2 more genetic tests like that. They also tell you the sex of the baby.

Some people opt out because there is the misconception that the only reason to test is so you can terminate the fetus if something is found. I find that silly. If something were wrong, I would want to prepare beforehand and line up the best care and treatment for after birth. It is a personal decision though.

Keep in mind that the most reliable test for Downs and Trisomy is during the 11-13 week NT scan. If you opt out, your A/S and other ultrasounds will not be able to tell you the results (although "soft markers" may be found, it is not with the same reliability or ratios).

Uptowngirl2009 · October 2013

So if I do call my insurance, what should I ask if they cover? Do you think they will know what I mean if I say "first trimester genetic testing" and "NT scan?" I don't have the exact codes for the tests. It might be that it will be covered but I might have to meet my deductible.

Right now I am leaning towards doing it just to be on the safe side but DH Might have a different opinion.

PinkinProvence · October 2013

I didn't call my insurance but typically the billing person at your doctor's would know since it is such a routine test.

BackseatDriver · October 2013

I had to get the codes from my doctors office and then call my insurance company with those. It was actually a very frustrating process. The billing person at my doctor's office said that sometimes it is covered and sometimes it isn't. My insurance company said it would be covered but "only if it is medically necessary". I could NOT get my insurance company to tell me under what conditions it would be considered medically necessary. In the end it was covered though.

jnadoreshn · October 2013

My RE just asked DH and I today if we were interested in genetic blood testing. The one he does is called Verify. I guess it tests for trisomy 13, 18, and 21 and also tells you the sex. Our insurance does not cover it and its "only" a few hundred dollars. We haven't decided whether or not to do it. If we do it, we will have to do it next week he said.

Being a NICU nurse I am not so sure I want the tests. Just because IF it does come back I think it would make me worry/stress more because I've taken care of patients with different trisomy anomalies. But thats just me.

We will discuss it more when DH gets home from work.

LittleLady77 · October 2013

PinkinProvence said it really well. It just gives you the likelihood of having downs or trisomy, it is not a positive or negative. We had it done as we would absolutely need to prepare both mentally and in life if we were going to have a child with a disability. My insurance covered the whole thing.

Uptowngirl2009 · October 2013

Thanks for sharing your wealth of knowledge! I have one more question: if you decline the testing and NT scan, does that typically mean you won't have an ultrasound at all during that time period? I want to see the baby as much as possible so that might factor into my decision as well.

sgautschi · October 2013

I declined the genetic testing. I didn't have any family history of genetic problems (downs, etc) and didn't want to worry myself or chance having to pay for it. And I wasn't under he impression that an ultrasound was part of it, otherwise I may have gone for it. I only had the 10w initial dating ultrasound and the 20w a/s.

Well actually I did have other ultrasounds, but they were only because I went to the hospital at 15w after a fall/head injury, and I got an elective one a 26w.

LSquared1024 · October 2013

@ream02 14w1d might still be okay for NT. It actually depends on crown-rump length measurement, not gestational age. Gestational age is just a rough guideline for scheduling purposes.

@uptowngirl2009 most people who decline don't have an ultrasound until 20 weeks, although it may depend on your doctors office.

BackseatDriver · October 2013

jnadoreshn said:

My RE just asked DH and I today if we were interested in genetic blood testing. The one he does is called Verify. I guess it tests for trisomy 13, 18, and 21 and also tells you the sex. Our insurance does not cover it and its "only" a few hundred dollars. We haven't decided whether or not to do it. If we do it, we will have to do it next week he said.

Being a NICU nurse I am not so sure I want the tests. Just because IF it does come back I think it would make me worry/stress more because I've taken care of patients with different trisomy anomalies. But thats just me.

We will discuss it more when DH gets home from work.

Just so you know the test you are referring to is a different type of test. If it detects an abnormality there is only a small chance that your child will be unaffected.

LSquared1024 · October 2013

And as a NICU nurse, i would think you would know better than many others the importance of parents/families being emotionally prepared and well educated about potential complications. As a mother, being totally present and prepared for my special needs baby trumps my "worry/stress".

PinkinProvence · October 2013

BackseatDriver said:

jnadoreshn said:

My RE just asked DH and I today if we were interested in genetic blood testing. The one he does is called Verify. I guess it tests for trisomy 13, 18, and 21 and also tells you the sex. Our insurance does not cover it and its "only" a few hundred dollars. We haven't decided whether or not to do it. If we do it, we will have to do it next week he said.

Being a NICU nurse I am not so sure I want the tests. Just because IF it does come back I think it would make me worry/stress more because I've taken care of patients with different trisomy anomalies. But thats just me.

We will discuss it more when DH gets home from work.

Just so you know the test you are referring to is a different type of test. If it detects an abnormality there is only a small chance that your child will be unaffected.

Tests like verify, cvs, materniti21 are positive or negative. There would be no worry "if", you would know for sure.

jnadoreshn · October 2013

@PinkinProvidence @backseat @Lsqueared I appreciate the feedback.

Talk to me about genetic testing

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