Prenatal testing - what's the point?

raspberrycustard · August 2019

I would love to hear some of your thoughts on pre-natal testing. I'm a non-US resident, currently at 12 weeks. My pregnancy was a surprise - so the insurance that i have doesn't really measure up for my circumstances. I travel for work, so it covers me globally and for most health needs - but is going to max out at around 1000 dollars for appointments and 7000 for the actual birth. It's for this reason, I'm going to be travelling back to my home country a couple months before due date and just having my baby there, where it's free, and the quality of care is equally good. If there's any complications, the costs in the USA could reach 100k - maybe even more.

My doctor here knows my circumstances - but there's so much grey area for testing. For example, testing for certain disorders, the only benefit is really just knowing in order to prepare yourself. Unless you first discuss, 'hey, if I found out this information and the results are negative, i'll terminate.' wouldn't it be better to have these things treated as optional?

For example, I've discovered I'm a carrier for Fragile X syndrome, after undergoing a test my doctor reccomended. Now, given this was my first birth, I just went with her advice. The company who managed the test has now reccommend I get my partner tested, but it was only after asking dozens more questions with my doctor was I able to ascertain that actually, the risk was VERY low and the reason I was reccomended to take the test was because I could know the genetic risk of my own child passing on fragile X to their children. Given it's 400 dollar cost, I don't see how this would be urged as such, no one person living today would be affected by the outcome. This is what pushes up insurance premiums for everyone! And for someone like me, it's going to be rude surprise when I receive the bill as costs of different tests are not broadly discussed in doctors offices. I've learnt it's my responsibility to speak up, but given most women (it seems) are covered where I'm being attended, the doctors just reccomend you do everything.

Does anyone else feel like they are being pressured into having tests that don't seem to be immediately helpful other than just giving you slim 'maybes' on various disorders? I know everyone is different, but frankly, I would rather reduce the stress of these outcomes and just hope for the best, address each situation as it comes once my baby is here. I feel like the moneymaking system here in the US isn't about providing options for mother's as rather just funding all these medical services.

This isn't like the movie Gattaca where we can choose to alter the health fate of our offspring once they are conceived. I'd love to know the opinions of those Momma's who perceive the benefits of 'knowing everything' and those who would rather 'hope for the best' and trust in fate. The question of how bad it needs to be before you'd consider to terminating is also on the table here and that's about as complicated and emotional as it gets.

Finally, the tests I'm most interested in are the ones that determine the immediate environment my child, anything that could jeopardize my baby or cause an early arrival - so I'm not really addressing those.

It's all so confusing!

jvk2012 · August 2019

We did genetic testing before even TTC because my H's brother has Fragile X syndrome. Through this testing we found out that neither of us is a carrier for Fragile X or Cystic Fibrosis. We did find out unexpectedly that I am a carrier for SMA with no family history. If my H was also a carrier for SMA then we'd have a 1 in 4 chance of each pregnancy having SMA. SMA is a terrible disease and even though there are great new advances in medicine, many children born with this disease do not survive childhood and definitely do not have anything resembling a "normal" life. If H was a carrier (he's not), we would have absolutely considered doing IVF with genetic testing of embryos to select ones that do not have SMA. Not everyone would make that decision but we would have. I also know that since I am a carrier, my children could be carriers as well as my brother and even cousins. I informed them of my genetic results so that when/if they have children they can make an informed decision on if they also want genetic testing or not.

Some genetic testing results could absolutely change the way people plan for their child's future, plan to continue/end the pregnancy, or plan for how they achieve pregnancy in the first place.

I don't know if you have met with a geneticist about your Fragile X testing. As a female carrier, all of your male offspring are at an increased risk of having Fragile X. Your female offspring could just be carriers or have a generally "mild" version depending on the child's father's genetics. I know a lot about this so if you have questions let me know. A child with Fragile X syndrome will have a lot of challenges. My BIL is awesome, I've known him for 15 years since he was about 15 years old and have watched him grow in so many ways but it hasn't been easy.

craftywitch · August 2019

We would terminate for anything that would decrease the quality of life for our family as a whole even if it weren't an incompatible with life diagnosis. It's something DH and I have discussed and would consider on a case-by-case basis. I find these kinds of threads are always full of "it's just great to be educated in advance, but we'd never consider terminating" responses. I just want to de-stigmatize the option of choosing not to continue a pregnancy.

That said, in your case if you don't want to know anything more in advance there is no obligation to continue testing and saying no is always an option. You should be able to ask your doctor about the specifics of what each test can provide you with and if you deem it useless information, opt out. Let you doctor know where you stand with all of this, and if they aren't providing you with the care and informed consent you're looking for change providers while it's still early.

doodleoodle · August 2019

I still haven’t decided if I’m going to get the NIPT done. Although I am planning to make a genetic counseling appointment to talk through my concerns. I understand the mindset of wanting to have as much time as possible to prepare for any unique challenges that you and your child’s may face. I haven’t decided yet, personally to go through with the NIPT yet because I’m not sure what I would do if they found the was at risk, apart from getting amniotic fluid drawn for further testing. And even that is (a little) risky. While there a very few false positives with NIPT they do still happen so, there’s an argument to be made to not have it done when it could potentially be putting an otherwise perfectly healthy baby at risk.

Anyways, all I’m trying to say is that because I’m not sure what I would do with the information I’m not jumping at the chance to have the testing done.

I think it’s a very personal choice and there is no one size fits answer.

leksiL · August 2019

As an older mom (I will be 39 when I have this baby) I actually have a very high chance of having a child with down syndrome or some other genetic defect - 1/78 chance. We would have absolutely terminated if that happened. Of course it would be devastating. With the more significant defects, that cause the child to struggle and die at a young age, in my view it is a kindness to terminate now versus have them go through that pain and struggle.

Now that I have my NIPT and NT scan results, I feel assured that my daughter does not presently have any genetic defects and we can continue the pregnancy without worry. Of course the anatomy scan will (hopefully) provide additional assurance since they check the heart chambers, etc. at that point.

doodleoodle · August 2019

@leksiL So, as someone who would definitely terminate (no judgement here) if there were any chromosomal abnormalities, would you have opted to get the NIPT done if you weren’t deemed high risk? Asking for a friend lol

stassischroeder · August 2019

craftywitch said:

We would terminate for anything that would decrease the quality of life for our family as a whole even if it weren't an incompatible with life diagnosis. It's something DH and I have discussed and would consider on a case-by-case basis. I find these kinds of threads are always full of "it's just great to be educated in advance, but we'd never consider terminating" responses. I just want to de-stigmatize the option of choosing not to continue a pregnancy.

*lurking

stassischroeder · August 2019

@raspberrycustard *I'm lurking from March 2020, but I wanted to chime in*

I guess it boils down to how you would feel if you skipped the testing and your child was born with a disorder that could've been detected by the optional prenatal testing.

Additionally, you may want to chat directly with any testing companies because they often offer discounts if you don't go through insurance. For instance, I know the "regular" cost for NIPT through companies like Counsyl and Harmony are $2000+. But, if you don't have or forgo billing your insurance, the cost drops to $250+, and they offer payment plans.

I happen to be in the "knowledge is power" camp, and I live in an ultra-conservative area that just assumes you don't want any testing because you wouldn't terminate even in a terminal situation. They also offer little to no education regarding testing options. It's infuriating.

Also, just for information's sake, I'm going to copy/paste some valuable info that @emmasemm posted in March 2020 (I hope you don't mind!):

cfDNA testing describes the method used for NIPT screening - there are now quite a lot licensed screens available, some more mature and more reliable than others. Make sure you know which ones are on offer and which one you decide on. Some require your OB practice to have signed up with them - so it might be why not all are offered by your own OB. But shop around especially if you have to pay yourself or if the ones your OB offers doesn’t give you what you want.
Another important point is that some of them only test for the three most common trisomies, whereas others you can optionally add on to screen for sex chromosome linked conditions eg XXY or some common microdeletions.
Most well known name brand is Harmony who for T21 does have a greater than 99% detection rate for T21 (but much lower for T13 and T18 - but the other screens have the same lower rates for these too - and sometimes much lower!) and an only 1 in 1600 false positive rate. The difference in the error and detection rates do differ a lot between the screens!
Also SUPER IMPORTANT is to note that none of these only screen are perfect and they don’t test for everything, plus very critically they are not diagnostic tests - very important OBs etc don’t lead anyone to think these are diagnostic tests as they are not - CVS and Amniocentesis are the only common in utero diagnostic tests (and come with their own risks as they are invasive).
The NT scan combined with the blood test for PAPP-A and free b-HCG is normally known as “first trimester screening”. This is based on measurements and where the three all fall in the database they have - thick NT, high free b-HCG and low PAPP-A indicates a higher risk. But the ranges and interactions are quite complex so don’t try to calculate anything yourself (I’m a mathematician and I might half want to try but I won’t...). If someone uses the term NIPT it doesn’t officially include this first trimester screening.
Many OBs will offer and compare the results from both NIPT and first trimester screening to have a fuller picture if you’re in a risk group.
Or some will do NIPT and just the NT measurement as a sanity check.
Most of the NIPT Tests need you to be over 10 weeks for the blood draw as that’s when the plugs no longer stop the babies blood mixing with the mothers - of course it can be a few days earlier but on average 10 weeks means everyone should get a result. Earlier you might risk a report of not enough fetal material.
Whether you do NIPT, first trimester screening or both or none - the 12ish week scan where they should do a “mini anatomy scan” and check there are not already any anomalies showing is very important for either confirming the results from the screening or maybe spotting signs which could mean something less common is going on which the screening doesn’t test for. Or it can give reassurance everything looks ok so far!
At 16 weeks you can also opt for the less popular “quad screen” which is like an extended version of the first trimester screening. It’s a blood test of four things - and particular also includes AFP which is the only screen (other than US - yes officially US is also a screening tool...) where potential signs of neural tube defects can be picked up so early. Only other ways are again with amino at that stage - which is invasive but definitive. It’s less popular as it’s so much later - before NIPT it was much more popular as it’s more accurate than first tri screening - in that it had less false negatives and false positives.
You can also do the AFP blood draw on its own then together with an US - especially if all your NIPT or first tri screening showed very low risk. So no need to the full quad screen if you just want to add the check on the neural tube stuff.
Once again, the only real issue to keep in mind is that the only trisomy that all the screenings have great accuracy on is T21. The others are still pretty accurate in some cases, but I was recommended to always compare the risk outcome with what is seen on ultrasound. And it’s such a small number of conditions they do screen for. Not wanting to scare anyone as the less common ones are just that - less common.
If you get a high risk, then my heart is with you. Deciding whether to do an amino or not, or what action to take is heartbreaking whatever happens. I also think this a very personal choice and everyone should do what is right for them and their family.
But i do also think knowledge is power in that you can prepare for whatever is coming.

kbrinks2 · August 2019

Completely a personal choice about whether you decide to do the testing or not. This is our 3rd and we didn’t get the testing for any of them and won’t this time. Both kids had choroid plexus cysts on their brains in their ultrasounds which are markers for Trisomy 18. We were devastated when they told us but whether we had the genetic testing done or not wouldn’t have changed anything. Neither ended up having Trisomy 18. Again I completely respect what anyone decides to do with the information they are given! It’s your family, your life and your choice as to what you choose to do! No judgement here!

raspberrycustard · August 2019

Ahh this is such a helpful discussion! It's really up to us to inform ourselves and our doctors about what kind of things we'd like to know in order to make practical decisions. I think I'm more in @kbrinks2 camp - I'd prefer to get bad news after the birth than have it hanging over my head during pregnancy, but this is just a personal preferences, like deciding if you'd like to know the gender - or not.

raspberrycustard · August 2019

stassischroeder said:

craftywitch said:

We would terminate for anything that would decrease the quality of life for our family as a whole even if it weren't an incompatible with life diagnosis. It's something DH and I have discussed and would consider on a case-by-case basis. I find these kinds of threads are always full of "it's just great to be educated in advance, but we'd never consider terminating" responses. I just want to de-stigmatize the option of choosing not to continue a pregnancy.

*lurking

And yes to this! I don't want to stigmatise this either -I certainly share @craftywitch views on this. It's just unfortunate that there's so many shades of grey in terms of severity and risk, indefinite results at 20 weeks is going to mess with your head something chronic. It's just so far along...

leksiL · August 2019

@doodleoodle - I have never not had a high risk pregnancy since I was "so old" with my daughter so it is hard to say. In my 20s $350 was a lot of money and I felt pretty invincible about anything so I probably wouldn't have done it, unless DH insisted which is likely. If my current self was in my 20s I would have spent the money haha. Funny how you change as you get older!

It's such a personal choice! There is no risk to the baby so it is really the $350 versus the peace of mind of knowing.

doodleoodle · August 2019

@leksil omgosh! Everyone is having babies later now. You’re not so old! I’m 29 and pregnant with my third and feel funny about being “so young” to have three. It’s one of the reasons I haven’t told many people. I know what you mean about changing as you get older though. I had my first at 25 and it never occurred to me to get the testing done and this time around I am agonizing over it. Mostly because I want to know, but I don’t realllyyyy want to know because I think when it came down to it I wouldn’t be able to “do anything about it”. I totally respect any choice that anyone would make in that situation and everyone should get to have the opportunity to make that choice, but after some serious soul searching I don’t think it’s for me.

I think these pregnancy hormones are getting the best of me. Phew! This thread is too much 😂

adifrog · August 2019

I'm just over the "advanced age" line. If there was a chance something could be corrected, I'd be all for the testing. After going through an experience of receiving an incorrect test result for a different condition, I do not want to risk a false positive or chance of something being wrong that never actually comes to fruition. The anxiety and heartache is awful, and I don't want to spend the next six months worrying about the what-ifs. If there is something wrong, we'll find out soon enough.

raspberrycustard · August 2019

Ahh see - thats the thing, so many of these tests will give you statistical odds, but there's also a chance they are wrong. So you could end up with anxiety and heartbreak over the potential to have a disorder that never eventuates.

It's also that, so many of these disorders - they can't be 'corrected'. You really just have to ascertain if their severity is so much that you might terminate, or not. Very complex questions to answer. For example, I'm a carrier for deafness - I'd never terminate for that - but an extreme disability, perhaps. There's a whole sliding scale in between.

If you're of the mind that you wouldn't terminate for anything, I don't really see the benefit in testing for so many disorders. My next appointment is 20 weeks, what help would it be discovering my child has Spina bifida? I'd rather not know simply because the anxiety would be so damaging, for me personally.

adifrog said:

I'm just over the "advanced age" line. If there was a chance something could be corrected, I'd be all for the testing. After going through an experience of receiving an incorrect test result for a different condition, I do not want to risk a false positive or chance of something being wrong that never actually comes to fruition. The anxiety and heartache is awful, and I don't want to spend the next six months worrying about the what-ifs. If there is something wrong, we'll find out soon enough.

DDRRT1982 · August 2019

As a NICU therapist, it’s very helpful to have information at delivery versus being surprised. Not to mention, some of the hardest hits emotionally for parents are to find out there might be a genetic or physical anomaly when they were expecting a healthy pregnancy. Everyone wants their child to be healthy, but when they aren’t it’s best for your medical team to be prepared.

jessieR358 · August 2019

We opted to not do any testing with our first, second, or this one. We wouldn’t terminate the pregnancy and I didn’t want the anxiety of a false positive. Would I be devastated with a genetic abnormality? Yes.

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