Should I have prenatal cystic fibrosis screening?
December 5, 2008 3:10 PM   Subscribe

Is there a more affordable way to obtain prenatal cystic fibrosis carrier screening? How important is it to be screened?

I'm 11 weeks pregnant with my first child. The doctor has offered/recommended that I be tested for being a cystic fibrosis carrier. It's my understanding that this is a standard offer to childbearing women.

My otherwise wonderful insurance does not cover genetic testing except in very limited cases which certainly don't apply here. I called my hospital's billing department and just found out that the test runs almost $1300. Ouch. The billing woman did offer to reduce that by 50%, so our out-of-pocket would be about $750. If I tested positive, my husband would need to be tested too for an additional $750.

That's a lot of money, but we can afford it if we need to. On the one hand, I'm tempted to skip it, because the odds are in our favor (there's a 1 in 29 chance each that we would be affected, and a 25% chance of having an affected baby if we're both carriers). However, we would definitely terminate the pregnancy if the baby was found to have cystic fibrosis, so in that light, $750 doesn't seem like a lot of money.

So, two questions I guess. 1) Is there any way I could get the test cheaper? 2) Should I get the test? What did you do and how did you make the decision. Since we would act on the eventual results of the tests, my gut says we should go for it, but I'm curious about how other people have thought about this.
posted by anonymous to Health & Fitness (12 answers total)
Sorry, knowing this will probably be deleted, I am so sorry that you have to go through this additional stress!
This should be such a happy time for you.
If both of you are Ashkenazi, I can see this test as being necessary.
I see from the quick google I did that in the USA Caucasians are also considered to be 1:30 risk but I can honestly say here in Europe I have never seen that statistic, and we're mostly Caucasians.
Hope someone comes by with better data.

posted by Wilder at 3:33 PM on December 5, 2008

I did the cystic fibrosis test and felt ridiculous about it. Also, HIV.

I also did an amnio. Like you, I would have terminated for genetic problems.

The thing is, though I felt ridiculous doing the cystic fibrosis test, and I felt ridiculous doing the HIV test, I absolutely had to do them because I'm way too uptight to get through a pregnancy without jumping at my own shadow every ten seconds.

My insurance covered it, and I'm not sure what I'd do if it hadn't, but my point is--how you handle this has to do with your regular tolerance for risk. Mine is low. If you are the kind of person who basically believes everything will be okay, I'd say you are lucky indeed--skip the test. Generally speaking, most of this stuff turns out fine.

But if you're going to be a basket case for the next six months, get the tests they throw at you. Try not to get too caught up in their fear mongering, though -- it's kind of part of pregnancy culture. Also, women telling you random horror stories. I don't know what the deal is with that.
posted by A Terrible Llama at 3:40 PM on December 5, 2008

The CF carrier test is one of those diagnostic tests that are not terribly helpful, in my opinion, because the action you would take upon receiving a positive result isn't clear.

As far as I understand it, if both you and your husband test positive, that means there is a 25% chance that a pregnancy from both of you will have CF. What would you do with that information? Would that mean you would never have children?

These are very sensitive issues, but facing tough decisions is part of what being a parent is all about. If you're frightened of it, you may want to get to know some people with CF. I've known a number of people with CF, and though maintaining their health presents challenges at times, their lives have enriched the lives of many others.
posted by jasper411 at 4:25 PM on December 5, 2008

jasper411 - if both parents are found to be carriers, the next step is genetic testing of the baby, either with CVS or amnio. if the baby has CF, you can either terminate or just use that information to be better prepared for your baby, for example giving birth in a hospital that has better facilities to care for a baby with CF.

As for future children, you can either get pregnant and do genetic testing, or you can do in vitro and test the embryos before they're transferred.
posted by robinpME at 4:53 PM on December 5, 2008

Are you planning to test for any other genetic issues? I opted to skip all screenings and instead did a CVS (chorionic villus sampling) test at 11 weeks. It was expensive, but it tested the actual fetus for a bunch of genetic issues (CF among them, if you choose) and then I didn't have to agonize over probabilities. For me it was better, even though it was expensive and invasive, to have definitive results while still in the first trimester, rather than wait for screenings and blood work to flag something and then have to do an amnio at 18 weeks.
posted by xo at 4:58 PM on December 5, 2008

$1300 seems a bit high for a standard CF screening panel. Having said that, there are several methods of analysis available and which is appropriate depends on several factors including family history. That said, you might want to take steps to ensure you, your OB and the billing department are all on the same page as far as what test is being discussed. Furthermore, most hospitals labs do not actually perform CF screening in-house; instead, they ship it elsewhere and serve as the relay center for results, etc. Your OB may be willing to ship your specimen directly to an actual performing lab, thus avoiding your hospital lab’s upcharges. There are numerous genetic labs performing CF screening/testing as Google will be happy to point out.
posted by beaning at 6:43 PM on December 5, 2008

If you are somehow in a higher risk group than your husband, get him husband tested first. If he tests negative, then no worries.

Try here for a pretty comprehensive genetic test- including CF- priced at $399.
posted by charmcityblues at 7:32 PM on December 5, 2008

Huh, that price seems awfully high. I'm Ashkenazic, so in late 2006 before attempting to get pregnant, I opted to get tested for the full range of Ashkenazic genetic diseases that Quest Diagnostics then offered as a "set" -- something like 15 diseases, including CF, all in one blood test -- and the whole thing cost less than what they originally quoted you for one CF-only test. My insurance did not cover any of it.

For what it's worth, the documentation I received that came with my test said that the Ashkenazic and non-Ashkenazic-European likelihoods of being a CF carrier were exactly the same: 1 in 25.

Also, for what it's worth, people with CF do tend to live into their 30's these days; Wikipedia says average lifespan is now up to 36 years. It's not an automatic childhood death sentence; I went to college with a guy with CF who's probably 29 or 30 now and recently got married. And gene therapy trials started several years ago, though there's no cure yet. I would worry more about carrying something truly awful, like Tay Sachs or Canavan, and get tested for those disorders instead if your ethnic group might predispose you to that.
posted by Asparagirl at 10:22 PM on December 5, 2008

You don't need the test. The chances that you AND your husband are both carriers of CF is slim enough that you shouldn't worry about it.

And now for my anti-abortion comment: My sister-in-law has CF. She is 23. She is not in the best of health all the time, but she isn't in the worst of health, either. She is the sweetest, kindest, most wonderful person you could ever meet. She has the heartiest laugh of anyone I've ever met. Everyone who knows her is better for it. She's married, went to college, and has worked steadily since she was a teenager. Because of CF, she doesn't lead a normal life. But then again, who does?

From 2006: "As an interesting perspective, in the last four years alone, more than five years have been added to the median survival age of CF patients." Think about it. With medical advances being what they are today, by the time your child reaches 30, his/her life expectancy could be that of an average adult.
posted by puritycontrol at 11:47 PM on December 5, 2008

IANAGC (genetic counsellor) but I think you need to consider the result of your Down's screening before making a decision. If you have a high-risk Down's result, you might be more likely to go for amnio/CVS anyway, which presumably would be covered by your insurance.
You have only a 1 in 3364 chance that the baby you have on board has CF, assuming you are caucasian with no family history of CF. My back of an envelope calculation suggests that the people who offered you this test are making >$4000000 for every baby with CF they prenatally diagnose, which doesn't sound like a good deal. In most places (Canada, UK, everywhere that can't afford $1300 a couple) testing for CF is not usually recommended in the general pregnant population, but I guess that must be changing in the US.
One final thought, if your parents or parent-in-law have more comprehensive insurance, could they go get the CF testing, which would help modify your risk?
posted by roofus at 1:43 AM on December 6, 2008

You need to go get tested. Don't worry about the cost.

There are more than 1500 mutations for CF, and a full screen costs around $3000. The regular test for CF only tests for the most common mutations.

It takes 10 days to get the results. If you test positive as a carrier, then you must also get your husband tested, which is another 10 days of waiting. If you both test positive as carriers of a CF gene, then you will need to get a CVS test on the baby, which takes up to 2 weeks to get results.

With the holidays coming up this means you may not know about your baby's health until early January at best. This means you'd be well into your 2nd trimester. If the baby is sick and you want to terminate you'd need a D&E procedure.

The fastest way to get solid results is to have both of you tested at the same time. You can then make an educated decision about a CVS, if that is needed (you both test positive). If you do need a CVS, make sure you choose a doctor who will send the samples to two different labs for testing. Most insurance companies do not cover CVS and the cost is about $1500.

Call around to the accredited CF clinics in your area and ask if they can help you with the costs. It is their goal to rid the world of this horrible disease and there are plenty of ways they can help: monetarily, counseling, advice, etc.

Both my wife and I are carriers and we've been through this process.

Lastly, call your mom and dad and grandparents on both sides of your family. Find out if anyone in either family has CF, has had CF and died, or is a known carrier of the gene. If the answer is yes to any of this, the chances that you or your husband are carriers goes up dramatically.
posted by camworld at 7:17 AM on December 6, 2008

Disclaimer: IANAD(y) and IANAGC.

Ravgen offers the standard 23-mutation panel for what seems to be a pretty low price ($160). From what I've read, the panel has "an expected sensitivity of 80% in Caucasians of European descent, 90% in Caucasians of Northern European descent, and 97% in Ashkenazi Jews." So it's not foolproof (and no negative DNA screening test is ever really conclusive), but if you're in one of those groups, the standard panel might meet your needs.
posted by greatgefilte at 8:55 AM on December 6, 2008

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