NT scan versus cell-free DNA test

[littleducky]

At my OB appointment today, I talked with my doctor about doing a NT scan (which I did when I was pregnant with my son as well as during my last loss pregnancy) versus doing one of the cell-free DNA tests (Materniti21, or Panorama, or Harmony... one of those).  She said her recommendation would be that I do the NT scan/quad screen and then if anything looks funny at the NT scan, there would still be time to do a cell-free DNA test afterwards.  My OB generally only recommends the cell-free DNA test for people are are AMA.  I'm not AMA (33) but I do have a bit of a quirky history given my losses, so she said we could do the blood test instead if I prefer.  I told her I think I'd rather do the NT scan.  Mostly, it's because I want the reassurance of another ultrasound.  

Were the rest of you given the choice between the two, or did you OB recommend one or the other, or does your OB have you do both?

[shoogars]

Traditionally my OB gives everyone the NT scan at 12 weeks, then those who are AMA or want to pay can get the Verifi. For me, it's not a one or the other choice.

[ArgyleEnigma]

Nov 20, 2015 14:43:57 GMT -5 shoogars said:

Traditionally my OB gives everyone the NT scan at 12 weeks, then those who are AMA or want to pay can get the Verifi. For me, it's not a one or the other choice.

Precisely this.

[littleducky]

It was never an either/or choice for me in my previous pregnancies, either. I think because of my losses she is offering me the choice.

[frecklesnbrains]

The majority of insurance companies won't cover the cell free test unless:
1) You're 35 or older (at the age of delivery)
2) You have a personal or family history of a pregnancy with a chromosome disorder
3) You have an increased risk based on another screening test (like NT scan or quad screen)

Personally, I like the cell free test because it's much more accurate than the quad screen and you get a more definitive answer sooner. However, you'd probably want to call your insurance company to see if it would be covered given your history (I'd guess if you had a history of a partial molar pregnancy then they may...)

[littleducky]

Nov 20, 2015 14:58:14 GMT -5 frecklesnbrains said:

The majority of insurance companies won't cover the cell free test unless:
1) You're 35 or older (at the age of delivery)
2) You have a personal or family history of a pregnancy with a chromosome disorder
3) You have an increased risk based on another screening test (like NT scan or quad screen)

Personally, I like the cell free test because it's much more accurate than the quad screen and you get a more definitive answer sooner. However, you'd probably want to call your insurance company to see if it would be covered given your history (I'd guess if you had a history of a partial molar pregnancy then they may...)

Yeah, I'd definitely call and check first.  Unfortunately the cell free tests don't pick up triploidy/partial molar, but the fact that I've had one quirky genetic issue in the past might make them more likely to cover the testing for other quirky genetic issues.

[frecklesnbrains]

Nov 20, 2015 14:59:57 GMT -5 littleducky said:

Nov 20, 2015 14:58:14 GMT -5 frecklesnbrains said:

The majority of insurance companies won't cover the cell free test unless:
1) You're 35 or older (at the age of delivery)
2) You have a personal or family history of a pregnancy with a chromosome disorder
3) You have an increased risk based on another screening test (like NT scan or quad screen)

Personally, I like the cell free test because it's much more accurate than the quad screen and you get a more definitive answer sooner. However, you'd probably want to call your insurance company to see if it would be covered given your history (I'd guess if you had a history of a partial molar pregnancy then they may...)

Yeah, I'd definitely call and check first.  Unfortunately the cell free tests don't pick up triploidy/partial molar, but the fact that I've had one quirky genetic issue in the past might make them more likely to cover the testing for other quirky genetic issues.

Exactly. You're correct that the cell free tests don't pick up triploidy, and actually the genetic mechanisms of triploidy are quite different from the trisomies, so there is not really any evidence that you'd be at higher risk, but the insurance company might not know that and if you're interested in the test then it's certainly worthwhile asking them.

[sandandsea]

Im AMA so I did the panorama. My ob said the Dna test basically tells you everything the nt scan would with more accuracy. But insurance won't pay unless the things pps said.


Eta. They said to schedule the anatomy scan detailed ultrasound for 18-20 weeks so anything that doesn't show up on the Dna test will be tested then and that the u/s they use for Ama is more detailed than the regular one they otherwise order.

[vlinder]

I'm doing both. I'm AMA so I don't know what they'd do for someone younger but my OBs office tried to push me to choose one or the other, with a preference towards the cell free DNA test. I pushed back because I want all the information possible and the NT scan has the potential to catch some issues that the DNA test doesn't. The extra ultrasound is a bonus.

[bgkc4]

I'm AMA and when I went to the geneticist this week, an NT scan wasn't even offered. My choice was a Cell free DNA test, amnio, or CVS. It was pretty obvious that I chose the Cell-free DNA test given the more invasive nature of the other tests. I think the geneticist only told me about the others to explain all of my options, but she was clearly leaning towards the blood test and said that the others were really only necessary pending the outcome of the Cell-free DNA test. Nobody mentioned an NT scan.

[littleducky]

Sounds like different offices have totally different protocols for when to recommend the different tests and whether to order the tests themselves or refer to a geneticist to determine what makes the most sense. I guess that is to be expected, given that the cell free tests are relatively new. I'm sure the recommendations will continue to change over the next few years.

[nymama917]

My office offered the NT which we are doing. I will be a month shy of 35 when I deliver so she explained i could get an amnio if I want but her recommendation was to wait and see if the NT raised any flags first. The other testing she said she does on first time moms but since I had genetic testing done (for the big stuff like cystic fibrosis etc) with DD1 and had no risk factors she said she wasn't going to do it. I had the option to do it but I chose not to because I felt okay with the original results and we can always get it at 12 weeks if there is concern. I can't believe how much things have changed in just 2 years!

[shan]

My OB suggests not doing the NT scan. It's not as comprehensive and it is up to human error with measurements. She wanted us to do panorama and if anything came up, they would do an extra ultrasound and additional testing.

[littleducky]

nymama917, I'm surprised that your doctor said that NT scan or amnio were the only options and that your OB didn't mention the cell-free tests at all. Seems kind of extreme to offer amnio without offering cell-free DNA. Good luck with the NT scan - that is the route I am going as well.

shan, so your doc does cell-free DNA for everyone? Again, I'm just so surprised how much the recommendations differ so much for everyone!

[cattuccino]

the variance surprises me as well!

I'm not sure if any of the cell-free is even available in Canada, or perhaps I guess at least not for low risk or moms or moms that aren't AMA... but because of universal health care the NT (Called IPS here, which is blood work and an ultrasound) if offered/available to every pregnant woman.

[shan]

Nov 23, 2015 15:43:55 GMT -5 littleducky said:

shan, so your doc does cell-free DNA for everyone? Again, I'm just so surprised how much the recommendations differ so much for everyone!

Yes. Panorama for everyone, unless you decline any genetic testing (which is an option). She will do an NT scan, but she says if you want genetic testing than panorama is the way to go. She's also a big fan of limited ultrasounds. It's a midwife/OBGYN practice, so they definitely hippyish.

[squirmywormy]

Lurking:
With my first I had the NT scan. The NIPT tests had just came out. NT scan was perfect. Baby was born and she had Down Syndrome. This time I wanted both just to make sure of no surprises. My Dr would not do both since if one was positive and the other was not the results would not be helpful. I did the NIPT since the NT scan was not accurate for me.

[txmommy14]

squirmywormy, Wow! That is crazy that the NT didn't catch it. How old is your DD now? I have a twin sister with DS. I know that must have been a HUGE surprise!

[squirmywormy]

Nov 24, 2015 21:23:56 GMT -5 txmommy14 said:

squirmywormy, Wow! That is crazy that the NT didn't catch it. How old is your DD now? I have a twin sister with DS. I know that must have been a HUGE surprise!

Yeah. The only thing was that it was shown she has short leg bones and both DH and I are short so we thought nothing of it. She is 2.5 yrs old and such a character.

[emadlma]

I go to an office that specializes in high-risk pregnancies. I am AMA (40) and they wanted me to do the NT scan next week before getting the blood testing done. I would rather just do the blood testing, but I want to make sure insurance pays for it since we have already spent a lot on this baby working with an RE after two mc last year.

[acob]

Routine unless you're high risk/AMA at my OB is NT scan/integrated screening - blood draws for protein markers at around 12 and 16 weeks. They didn't even discuss cell free fetal DNA as an option. I brought it up to them - and had to FIGHT to get them to do it. I'll be switching providers after the results are back. I had my NT scan at 11 weeks, and while subjectively it looked fine, they couldn't get a measurement so it won't be calculated as part of the integrated screen results. Another fight, but they're redoing the NT tomorrow before it's too late.

I'm getting VisibiliT drawn tomorrow (same lab and technology as MaterniT21, geared toward low/average risk people. Only looks for trisomy 21 and 18, and sex, costs $350 out of pocket - they don't bill insurance at all). As MaterniT21 is something like $700 out of pocket, I think this VisibiliT will work for me.

[txmommy14]

acob, Sorry for your bad experience, crazy that you had to push back so much, but it's great that you advocated for your own health!

[acob]

Thanks txmommy14. It's a major, state university teaching hospital, and it blows my mind that this is their protocol. The genetic counselor actually told me that if the blood serums/NT scan weren't enough info for me, to remember that anyone can have an amnio done. Seriously, they'll offer an amnio on any low risk patient without any indicators that something might be wrong, but won't do a freaking blood test.

Even though I'm getting the tests I want, I hate to think of how many women could have benefited from cfDNA, were told it wasn't an option, and didn't push for it.

[virginiaorjohn]

I just got blood drawn for the materniT21 test today. My genetic counselor said my insurance would reject it because I'm not high-risk, but that Sequenom has a company policy of billing the patient a discounted amount if insurance rejects it. She said my discounted amount based on my state and insurance plan is $140. At that amount I'm like, uh, yeah, gimme all the tests.

[frecklesnbrains]

Wow virginiaorjohn! That's a GREAT deal. My insurance covers the MaterniT21 test because I'm AMA but because I'm healthy as a horse and haven't spent a dime on medical expenses this year I as told it would be $500 OOP to cover my deductible. I haven't actually seen that bill yet, but I was fine with it because I assumed I would have to pay that deductible at some point anyway (though this may not be true... as it's now almost the end of the year). But now I'm kinda wishing I had found a way to get the test without them billing my insurance. The whole system is totally whacky.

I agree that the best practice should be to offer these tests to ALL women, but to tell low-risk women that the caveat is that there may be a big OOP expense and leave it up to the patient to consult with their insurance company. I think the issue is that the tests are so new and insurance coverage is a moving target, so some practices are having a hard time keeping up with it all.

[txmommy14]

My doctor's office said the same thing about the Harmony-even if insurance rejects it, the max I'll pay is $135 out of pocket. However, they likely won't reject it because of family history. The weird thing is that I haven't even seen it show up on my insurance claims center yet, and lots of things have gone through with later dates. Maybe it just takes them longer to process it since they have to see a letter from the dr. about why they did it.

[ArgyleEnigma]

I had no history or justification for it and it was still only $130. Mind you, ultrasounds and other appointments have been sooo expensive, I bet I will hit 1.5-2k by the end of the year.