Cell free DNA (cfDNA) screening thoughts?

kateleap · February 2016

Hi ladies--since my loss last summer/fall, my OB has started offering cfDNA screenings, and I'll be able to take it when I go in for my 10 week appointment. Just curious if others have done it with previous pregnancies, are planning to with this one, and hear folks' thoughts! We are inclined to get it because it's non-invasive, and we'd be looking at the results in the spirit of being prepared for whatever comes--plus, knowing the sex sooner is such a tease for my impatient self! Curious about how other people might feel about it.

von1976 · February 2016

We will be doing it because I'm AMA. I'll be 40 when baby comes. We are concerned with chromosomal abnormalities and defects. We will elect not to use it to determine gender, however.

cd92007 · February 2016

Oops! Just posted about this exact same thing ha!

kateleap · February 2016

@cd92007 Haha, great minds!

PrimRoseMama · February 2016

No.

lyonbbmum · February 2016

We will also definitely do it. First because I am AMA and second because I just had a MC 6 months ago...

btsrc5 · February 2016

I am AMA (35) and decided to do it. DH wants to find out the sex in the u/s later, but I am looking forward to finding out early. We would not terminate if something were wrong, but I would like to know so we can be better prepared.

kateleap · February 2016

@btsrc5 That's how we feel as well.

It sounds like my OB office is very atypical in offering cfDNA as standard to non-AMA moms--my insurance covers it as standard as well. Interesting!

Glow360 · February 2016

I'm doing it and I do plan on terminating if something is wrong. I've got a child with special needs and I love him more than anything, but it's been a long journey and Im not about to go down that road again.

kmalls · February 2016

kateleap said:

@btsrc5 That's how we feel as well.

It sounds like my OB office is very atypical in offering cfDNA as standard to non-AMA moms--my insurance covers it as standard as well. Interesting!

@kateleap have you actually confirmed that with your insurance company? It was my understanding that no insurance company covers this testing if you don't meet specific criteria. The companies that produce these tests typically offer subsidies, though, when insurance doesn't cover it, which brings out of pocket expense down to about $120.

ETA: my OB also offers this testing standard to every patient.

kateleap · February 2016

@kmalls I did confirm with my insurance--spoke with them yesterday (I also work with some health insurers professionally so I read benefits docs pretty well, which is coming in handy!). That said, I do live in MA, which generally tends to have the most comprehensive maternal/prenatal benefits in the country.

kmalls · February 2016

@kateleap - interesting, I'm also in MA. Ours definitely does not cover it, though! We had no choice as far as what insurance company to go with, my husband's office only offers one, with various levels of coverage within that company. Luck of the draw, I guess!

kateleap · February 2016

@kmalls Luck of the draw for sure. For what it's worth without getting into personal details, if you have Tufts or BCBSMA I would say it's definitely worth calling to confirm if you want it (though of course it depends on your specific plan too).

kmalls · February 2016

kateleap said:

@kmalls Luck of the draw for sure. For what it's worth without getting into personal details, if you have Tufts or BCBSMA I would say it's definitely worth calling to confirm if you want it (though of course it depends on your specific plan too).

Huh. We DO have one of those companies (and the highest level PPO within that company) and were definitely rejected for the screening last pregnancy. I'll call and see if anything has changed in a year!

kateleap · February 2016

@kmalls Good luck!

EConwayWilliams · February 2016

Hi! I was curious about it too, and had a long talk with my O.B. about it yesterday that was super helpful. Essentially, how accurate a positive will be depends on your age, because of the interaction of the tests' specificity/sensitivity with the base rate in the population. So, if you are 19yo and receive a positive, there is only a 10-20% chance that the positive is actually correct. However, if you are 40, approximately 75-80% of positives will actually have a genetic defect. So, if you are not of AMA, in many ways it makes more sense to wait a couple of weeks for CVS. Also, often insurance does not pay for it, and I was told it was $800 out of pocket, so be sure to check into that. Right now it is being heavily advertised, and seems to be somewhat overused, in part for that reason. HTH!!

kateleap · February 2016

@EConwayWilliams Thanks for that--I hadn't heard about the results varying by age. For us, since it's a screening and not a diagnostic, we aren't assuming that the results would be super-accurate either way, but more of a decision about whether to do more testing later on, since I'm very inclined against CVS and anything invasive without having a stronger reason.

von1976 · February 2016

@EConwayWilliams Are you certain your doctor was talking about the free cell DNA test? The results for this have nothing to do with age, they are accurate regardless. Now if you're talking the NT sonogram, that is based on age, and is therefore less accurate. I don't anticipate going for the CVS after the free cell DNA test. There's really no need, since the information can be gathered through this non-invasive test.

EDIT: Never mind, I just googled it and it does say it's only a "screening" test and not a diagnostic. I guess I don't understand how that works and how it is based on age of its looking at fetal DNA. But you're right!

vanessa11411 · February 2016

If it's offered to me, I will do it. We are still unsure of what has been causing my recurrent miscarriages. My OB gave me the option of using the progesterone supplements this time around but she mentioned to me that worst case scenario would be that if my miscarriages are because of chromosomal abnormalities that the progesterone could continue the pregnancy that my body has previously been rejecting.

agogo1 · February 2016

I respectfully (but strongly) disagree with the suggestion that CVS makes more sense than a cfDNA test for moms who are not AMA. CVS comes with a number of risks, and cfDNA has essentially none. If you test positive through cfDNA, then do CVS for a diagnostic result. cfDNA is more accurate than the NT scan (which is often done as a screen before a diagnostic CVS/amniocentesis test), and it is much, much less than $800 in the majority of cases. I paid $160 during my last pregnancy (after my insurance company denied coverage), and it sounds like $120 is the going rate these days. My NT scan was $190 out of pocket (after insurance). There are a number of companies who offer this type of testing. If it's something you are interested in, shop around.

kateleap · February 2016

@agogo1 Yes!! This is exactly where I'm coming from.

Selena2016 · February 2016

Who is considered "at risk"? I will be 35 one month after my due date.

Enoira · February 2016

This is the first I have heard of cfDNA... I only know about the CVS. I am AMA and plan on doing quite a bit of genetic testing-- did CVS with my last pregnancy. What is the big difference? Sounds like it happens earlier than CVS?

kmalls · February 2016

Enoira said:

This is the first I have heard of cfDNA... I only know about the CVS. I am AMA and plan on doing quite a bit of genetic testing-- did CVS with my last pregnancy. What is the big difference? Sounds like it happens earlier than CVS?

@Enoira - cfDNA is done through a simple blood draw so there's no risk at all to the baby. The draw can be done as early as 10 weeks. Unlike a CVS, though, cfDNA is not a diagnostic tool, it's just a screening. The results will tell you if the baby has an elevated chance of a specific disorder but additional testing (like a CVS) would then need to be done to confirm. Obviously the benefit is that if the screening comes back clear, no further testing would need to be done.

kmalls · February 2016

Selena2016 said:

Who is considered "at risk"? I will be 35 one month after my due date.

@Selena2016 - typically those aged 35 or older during pregnancy are offered a cfDNA screening because they're at slightly higher risk than younger women for genetic abnormalities. Those who have a family history of diseases or those who know they're a carrier for a genetic disease also can be offered the screening.

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