Genetic Testing Pregnancy Issues
April 12, 2006 6:06 AM Subscribe
Pregnancy filter: did you do 1st trimester genetic testing? Did you do an amnio or CVS as a result? Did you completely freak out over tiny risks? How did you cope?
We just had our 1st trimester "triple test," where they do an ultrasound and bloodwork for PAPP A and HCG. The ultrasound looked pretty good -- a nucheal translucency on the high side of normal, but nothing to worry about too much. The bloodwork looked fine on the HCG side, but PAPPA A was pretty low (10th percentile, but not 5th percentile). So, the computer tells us that the risk of Down's has gone from like 1/800 to something like 1/280. There are also various other bad things associated iwth low PAPP A, but the percentages are like 1-3% for people in the 5th percentile of measurement, which we're not even in. Also, Down's babies usually have high HCG (not us) and also an absent nasal bone at 12 weeks (not us).
We're now faced with: (a) a complete freakout over what still look to be pretty tiny risks; (b) the question of whether we should do more testing -- even invasive testing like an amnio -- to get a more precise result. If it matters, we're both not really math/statistics people, so we have no way to really get our heads around how worried we should be.
Did you go through something similar? Did everything turn out ok? How did you deal with this constant uncertainty? The terrible part is that I'm sure that even once we get past this latest piece of information, we're going to get some other test result that tells us we have a 1/1000 chance of having an alien baby, a 1/250 chance of getting hit by a bus, a 1/232 chance of having a serial killer, etc. Nothing is certain! (This gives you a flavor of the freakout.)
We just had our 1st trimester "triple test," where they do an ultrasound and bloodwork for PAPP A and HCG. The ultrasound looked pretty good -- a nucheal translucency on the high side of normal, but nothing to worry about too much. The bloodwork looked fine on the HCG side, but PAPPA A was pretty low (10th percentile, but not 5th percentile). So, the computer tells us that the risk of Down's has gone from like 1/800 to something like 1/280. There are also various other bad things associated iwth low PAPP A, but the percentages are like 1-3% for people in the 5th percentile of measurement, which we're not even in. Also, Down's babies usually have high HCG (not us) and also an absent nasal bone at 12 weeks (not us).
We're now faced with: (a) a complete freakout over what still look to be pretty tiny risks; (b) the question of whether we should do more testing -- even invasive testing like an amnio -- to get a more precise result. If it matters, we're both not really math/statistics people, so we have no way to really get our heads around how worried we should be.
Did you go through something similar? Did everything turn out ok? How did you deal with this constant uncertainty? The terrible part is that I'm sure that even once we get past this latest piece of information, we're going to get some other test result that tells us we have a 1/1000 chance of having an alien baby, a 1/250 chance of getting hit by a bus, a 1/232 chance of having a serial killer, etc. Nothing is certain! (This gives you a flavor of the freakout.)
There are false positives and false negatives in any type of testing. Ask yourself this: what if further testing unequivocally shows a problem? What will you do? Your answer to that question will help you decide on your next action.
Good luck to you.
posted by SuperSquirrel at 7:27 AM on April 12, 2006
Good luck to you.
posted by SuperSquirrel at 7:27 AM on April 12, 2006
I had some slightly off-the-scale results too with my first. I freaked out, given that it was my first. Ultimately, we decided to not do amnio. Our thinking was as follows: there was a much higher chance of miscarriage from amnio (don't remember the number) than the chance of having a Downs child. My first is now a teenager too, and she was fine.
Talk to your doctor, but my sense is that you can just relax. Sometimes I think that pregnancy screening tests cause way more anxiety than they're worth.
posted by Flakypastry at 7:28 AM on April 12, 2006
Talk to your doctor, but my sense is that you can just relax. Sometimes I think that pregnancy screening tests cause way more anxiety than they're worth.
posted by Flakypastry at 7:28 AM on April 12, 2006
One question you need to answer before moving on to more invasive tests (i.e. amniocentesis) is whether you are prepared to terminate the pregnancy if the results are bad. Don't wait to make this decision until after the test as the test involves extra risk for the baby. Terminating the pregnancy is extremely difficult to do, even if you know the baby has defects. Many parents will decide that it is better to go forward and care for their child despite the problems than to end things early. If that is you then doing the amnio just adds more risk to what is most likely a normal baby.
posted by caddis at 7:31 AM on April 12, 2006
posted by caddis at 7:31 AM on April 12, 2006
I'm going to have my AFP test done in a few weeks, so I can't speak for my own reaction just yet (but I'll certainly admit to already feeling a little nervous). A good friend of mine recently had hers and the results said they had a 1 in 50 chance of having a baby with Down's. They had the level II ultrasound and it appears to say that their baby is actually looking very normal. They, however, have decided not to do any further testing. They've decided that they're having this baby no matter what and that the results of any other tests aren't going to change their minds.
I'm not sure if I would make the same decision if I was in their shoes but it certainly gave me something to think about. I know all those statistics that you're dealing with would have me in a tizzy. I guess one of the other questions you should ask yourself (which my friend was able to answer easily while I think I'd have a harder time with it) is "will it make a difference in how I deal with this pregnancy?"
Another note - her doctor was using the date of her last period to figure out gestational age even though my friend knew that date was about a week to a week and a half off of the actual conception date. Since the test is based on the amount of hormones you're supposed to have at a particular getstation date, this can make a big difference in the results.
Sorry for the ramble - I know how heartwrenching all this is. Just thought I'd share and wish you and your family the best of luck.
posted by chrisubus at 7:33 AM on April 12, 2006
I'm not sure if I would make the same decision if I was in their shoes but it certainly gave me something to think about. I know all those statistics that you're dealing with would have me in a tizzy. I guess one of the other questions you should ask yourself (which my friend was able to answer easily while I think I'd have a harder time with it) is "will it make a difference in how I deal with this pregnancy?"
Another note - her doctor was using the date of her last period to figure out gestational age even though my friend knew that date was about a week to a week and a half off of the actual conception date. Since the test is based on the amount of hormones you're supposed to have at a particular getstation date, this can make a big difference in the results.
Sorry for the ramble - I know how heartwrenching all this is. Just thought I'd share and wish you and your family the best of luck.
posted by chrisubus at 7:33 AM on April 12, 2006
We went through this with our second child, and it was quite hard. In the end we had an amnio done. The baby turned out fine. The things I would say as a result of that experience are:
before you test, think carefully about what you'll do with the knowledge. If you had an amnio and it showed you had a Down's syndrome child would that help you to get more psychologically prepared? Maybe you'd consider termination? If you're basically committed to having the child in any case, why do you want to know?
even if all tests are normal, there are things you can't test for. And then there's accidents etc - having a child is a leap of faith and part of what you're feeling just reflects the fact that you've consigned part of your happiness to the fate of another human.
I won't try to explain stats to you - talk to your doctor or midwife and get them to explain the risks.
Hope it all goes well. Try not to worry!
posted by crocomancer at 7:44 AM on April 12, 2006
Hope it all goes well. Try not to worry!
posted by crocomancer at 7:44 AM on April 12, 2006
Second caddis. When is the amnio completed - around 16 weeks? Would you be willing to terminate this pregnancy once you are that far along (which potentially means giving birth to a very tiny stillborn)? I am as pro-choice as the rest of em, but when it came to my life and my pregnancy, I declined genetic testing because I knew I was unwilling to abort.
posted by crazycanuck at 7:44 AM on April 12, 2006
posted by crazycanuck at 7:44 AM on April 12, 2006
On preview - sorry. What everyone else said.
posted by crocomancer at 7:45 AM on April 12, 2006
posted by crocomancer at 7:45 AM on April 12, 2006
We did the first set of tests you mentioned with both pregnancies, and everything came out normal. But since pregnancy comes with all kinds of built-in uncertainties and unknowables, there will always be something to worry about. I know I found plenty of things to fret over.
Telling you to stop worrying is not going to work. So, maybe you could consider all the statistics, not just the bad ones? Most babies are born perfectly healthy or with only minor health problems (jaundice, for example). I've had several friends who gave birth to normal babies even after having abnormal results on an AFP.
How did you deal with this constant uncertainty?
Hoo-boy, welcome to parenting. Maybe the only way to deal with constant uncertainty is to get used to it. That's what's worked for me.
posted by whatnot at 7:46 AM on April 12, 2006
Telling you to stop worrying is not going to work. So, maybe you could consider all the statistics, not just the bad ones? Most babies are born perfectly healthy or with only minor health problems (jaundice, for example). I've had several friends who gave birth to normal babies even after having abnormal results on an AFP.
How did you deal with this constant uncertainty?
Hoo-boy, welcome to parenting. Maybe the only way to deal with constant uncertainty is to get used to it. That's what's worked for me.
posted by whatnot at 7:46 AM on April 12, 2006
Worth repeating: know what your plan is before the test. (Although you can of course change your mind.) I know someone who had an amnio each time she was pregnant -- the first for more accurate testing of indicators and the results showed a chromosone abnormality. The pregnancy was terminated. Second time: she took all of the tests even with the odds getting better with each test -- right on through the amnio. The baby is well. (The doctors noted that while odds are quoted for amnio related miscarriages each had never had one occur.)
posted by Dick Paris at 8:26 AM on April 12, 2006
posted by Dick Paris at 8:26 AM on April 12, 2006
I'll throw some anecdotal on the pile for you - 3 women in my office had wonky AFPs. All of them had amnios to find nothing wrong and all have healthy babies. They all universally said the amnio test itself wasn't bad at all (which surprised me). I know how anxious I was waiting for my test results. I know that in your situation I would go for further testing. The mostly likely conclusion of which is allowing you to relax at least a little for the rest of your pregnancy.
posted by Wolfie at 8:53 AM on April 12, 2006
posted by Wolfie at 8:53 AM on April 12, 2006
We had a genetic ultrasound done and felt much more secure. It wasn't covered by insurance and was ~$900.
posted by Aknaton at 10:12 AM on April 12, 2006
posted by Aknaton at 10:12 AM on April 12, 2006
OK - a few things. AFP is not a definitive test. It's a test that puts you into a slightly different probabalistic bin. What you had is also known as the Ultrascreen and an AFP is recommended no matter what.
Our AFP indicated a possibility of an issue but the probability was lower than spontaneous miscarriage because of an amnio that goes wrong. This decision was also affected by a close friend of ours who had an abnormal AFP and spent the rest of the pregnancy in fear. Ultrascreen was not available to us. The first ultrasound revealed a kyphosis, which is really a fancy term for curving of the spine and they didn't investigate further because it was not too unusual. In retrospect they probably should have investigated.
Our daughter has trisomy 21 or Down syndrome. You know what the worst parts are? Fear and society. Fear because we don't know how things are going to turn out (T21 could be referred to as a "staircase condition" in that if you pushed 100 people down a staircase, you'd have a wide range of issues with only a base set of commonalities), but these fears are similar to what other parents will feel someday, we just got them really early in trying to figure out what she will or will not be able to do. The society issue is a bigger problem. We have to deal with ignorance and the side-effects of ignorance, and this is what seeds a lifelong role of parental advocacy.
So why am I going on about this? You should be asking yourself about consequences and how you'd react to the reality of having a child with a disability. If you're specifically worried about having a child with Down syndrome, then read this book which is one of the best books I've found. A lot of our fear stems from ignorance, and education is the cure for that. In our my case, I don't think I'd trade my daughter for anything since she has taught me so much about truly being a parent. Plus she's a real sweetie. My best friend from college told me that he believes that the fundamental gene for human kindness is on the 21st chromosome, and if so those with T21 get an extra helping.
And one last little thing - and I'm not saying this out of rancor, but out of the desire to educate a teeny bit- since even medical professionals seem to get it wrong: It's Down syndrome (capital D, lowercase s), not Down's syndrome. You can also say Trisomy 21, which is probably the most accurate, medically. Please avoid Down's babies or Down's kids and favor babies with Down syndrome or kids with Down syndrome. Some people don't care about the phrasing "Down's babies", but some people care very much. I don't really buy into PC nomenclature myself, as it makes me want to use the phrase "metabolically challenged" instead of "dead", but this particular nuance, called Person First Language, while somewhat clumsy, puts focus on the person not the condition and that is a subtle but effective shift in viewpoint. End of lecture.
If you have more specifc questions, my email is in my profile.
posted by plinth at 10:38 AM on April 12, 2006
Our AFP indicated a possibility of an issue but the probability was lower than spontaneous miscarriage because of an amnio that goes wrong. This decision was also affected by a close friend of ours who had an abnormal AFP and spent the rest of the pregnancy in fear. Ultrascreen was not available to us. The first ultrasound revealed a kyphosis, which is really a fancy term for curving of the spine and they didn't investigate further because it was not too unusual. In retrospect they probably should have investigated.
Our daughter has trisomy 21 or Down syndrome. You know what the worst parts are? Fear and society. Fear because we don't know how things are going to turn out (T21 could be referred to as a "staircase condition" in that if you pushed 100 people down a staircase, you'd have a wide range of issues with only a base set of commonalities), but these fears are similar to what other parents will feel someday, we just got them really early in trying to figure out what she will or will not be able to do. The society issue is a bigger problem. We have to deal with ignorance and the side-effects of ignorance, and this is what seeds a lifelong role of parental advocacy.
So why am I going on about this? You should be asking yourself about consequences and how you'd react to the reality of having a child with a disability. If you're specifically worried about having a child with Down syndrome, then read this book which is one of the best books I've found. A lot of our fear stems from ignorance, and education is the cure for that. In our my case, I don't think I'd trade my daughter for anything since she has taught me so much about truly being a parent. Plus she's a real sweetie. My best friend from college told me that he believes that the fundamental gene for human kindness is on the 21st chromosome, and if so those with T21 get an extra helping.
And one last little thing - and I'm not saying this out of rancor, but out of the desire to educate a teeny bit- since even medical professionals seem to get it wrong: It's Down syndrome (capital D, lowercase s), not Down's syndrome. You can also say Trisomy 21, which is probably the most accurate, medically. Please avoid Down's babies or Down's kids and favor babies with Down syndrome or kids with Down syndrome. Some people don't care about the phrasing "Down's babies", but some people care very much. I don't really buy into PC nomenclature myself, as it makes me want to use the phrase "metabolically challenged" instead of "dead", but this particular nuance, called Person First Language, while somewhat clumsy, puts focus on the person not the condition and that is a subtle but effective shift in viewpoint. End of lecture.
If you have more specifc questions, my email is in my profile.
posted by plinth at 10:38 AM on April 12, 2006
Response by poster: Thanks. Sorry for any offense with the terminology -- I really don't know anything about this area.
posted by Mid at 11:17 AM on April 12, 2006
posted by Mid at 11:17 AM on April 12, 2006
I know this doesn't help you now, but my partner and I decided not to have any kind of prenatal testing done at all. We'd both read about the high likelihood for false negatives, and we knew that we wouldn't terminate the pregnancy even if our baby had defects, so there was no point in stressing ourselves out. Also, I'm a chronic worrier, and I knew that if I knew for 6 months of my pregnancy that there was something wrong, I felt that would somehow be communicated to the baby that it wasn't wanted or there was something wrong with it. Stay positive!
posted by jennaba at 11:28 AM on April 12, 2006
posted by jennaba at 11:28 AM on April 12, 2006
No offense here, so no need to apologize. If I can answer a MeFi question and also take an opportunity to educate a tiny bit I will. Again, if you (or our other dear readers) have specific questions, please feel free to email me.
If I were to offer any piece of specific advice it would to avoid letting fear drive decisions, if at all possible.
posted by plinth at 1:18 PM on April 12, 2006
If I were to offer any piece of specific advice it would to avoid letting fear drive decisions, if at all possible.
posted by plinth at 1:18 PM on April 12, 2006
It's Down syndrome (capital D, lowercase s), not Down's syndrome. You can also say Trisomy 21, which is probably the most accurate, medically.
Bravo, sir; well stated, especially the part about person-first language. In my own practice, I was so pleased to stop treating epileptics and start treating people with epilepsy. I feel it's worth pointing out that occasionally a translocation will produce Down syndrome in the absence of Trisomy 21, so the two terms are not always synonymous.
To the original poster: it upsets me when I see docs (probably malpractice-wary docs) dump statistics on their patients in lieu of rendering an opinion. Docs are paid to give their opinion; in your shoes, I'd ask the doc what she thought I should do, and then I'd do that thing.
The idea that your ability to gather information on strange and rare things, via anecdotal reports, the Internet, and god knows where else is somehow going to produce an instant expertise on your part that will trump that of a trained obstetrician - that's a pretty silly idea. If you're not going to the OB because you valued her expertise, why go at all?
posted by ikkyu2 at 2:53 PM on April 12, 2006
Bravo, sir; well stated, especially the part about person-first language. In my own practice, I was so pleased to stop treating epileptics and start treating people with epilepsy. I feel it's worth pointing out that occasionally a translocation will produce Down syndrome in the absence of Trisomy 21, so the two terms are not always synonymous.
To the original poster: it upsets me when I see docs (probably malpractice-wary docs) dump statistics on their patients in lieu of rendering an opinion. Docs are paid to give their opinion; in your shoes, I'd ask the doc what she thought I should do, and then I'd do that thing.
The idea that your ability to gather information on strange and rare things, via anecdotal reports, the Internet, and god knows where else is somehow going to produce an instant expertise on your part that will trump that of a trained obstetrician - that's a pretty silly idea. If you're not going to the OB because you valued her expertise, why go at all?
posted by ikkyu2 at 2:53 PM on April 12, 2006
We had a AFP that indicated higher Down Syndrome risk; we had another ultrasound but no amnio, Like others we weren't interested in termination but rather just being prepared if that were the case--amnio was an unacceptable risk for us because of this. (Baby's fine, BTW).
...that's a pretty silly idea. If you're not going to the OB because you valued her expertise, why go at all?
ikkyu2, I will be interested to hear the responses to your comment. Although I agree that the advice of laymen here should be considered with proper regard for its source, there are many reasons to ask:
1. Many do not have a choice, essentially, of their OB. Perhaps they cannot afford a choice, perhaps their plan does not allow them to choose, perhaps the provider is the only one in the area.
2. Everyone is wrong sometimes, even doctors. Laymen will be wrong on medical matters much more often than doctors, but this is not an absolute. A "second opinion" of an MD is not always possible (see 1.).
3. The OB may be male or childless, and the poster looking for a female opinion/perspective or that of a mother.
4. Perhaps the OB that initially seemed a promising choice didn't offer enough help at this point, as you imply may be the case with your "opinion" commentary. Well said.
5. Where *else* will this person get the information needed? The library (not mine!)? Try making an appointment with another provider just to talk about Downs worries. In my experience, offices are too busy/overworked to provide such "nonessential" care. Perhaps it is better where you live, or if you are yourself a doctor. Not to mention, switching obstetricians in mid-pregnancy is generally difficult.
6. While the OB has possible seen many pregnancies (or maybe they're fairly fresh, yet), it is likely that the breadth of responses here may exceed the breadth of experience of the OB (Yes, the *depth* of these responses of course will usually be less here). It is likely that the combined experience of responders will be reasonably correct, and may in fact bring additional considerations into focus that the OB did not mention.
Though I acknowledge you have a point, I don't think the OP was expecting instant expertise to trump the OB.
There seems to be a trend of mutual disregard between doctors and their patients; Doctors can be dismissive of patients' attempts to educate themelves, and patients can underestimate the amount of education necessary to be a competent doctor. I think that (some) individual doctors think too highly of themselves, and (some) patients don't think highly enough of the profession.
posted by RikiTikiTavi at 3:41 PM on April 12, 2006
...that's a pretty silly idea. If you're not going to the OB because you valued her expertise, why go at all?
ikkyu2, I will be interested to hear the responses to your comment. Although I agree that the advice of laymen here should be considered with proper regard for its source, there are many reasons to ask:
1. Many do not have a choice, essentially, of their OB. Perhaps they cannot afford a choice, perhaps their plan does not allow them to choose, perhaps the provider is the only one in the area.
2. Everyone is wrong sometimes, even doctors. Laymen will be wrong on medical matters much more often than doctors, but this is not an absolute. A "second opinion" of an MD is not always possible (see 1.).
3. The OB may be male or childless, and the poster looking for a female opinion/perspective or that of a mother.
4. Perhaps the OB that initially seemed a promising choice didn't offer enough help at this point, as you imply may be the case with your "opinion" commentary. Well said.
5. Where *else* will this person get the information needed? The library (not mine!)? Try making an appointment with another provider just to talk about Downs worries. In my experience, offices are too busy/overworked to provide such "nonessential" care. Perhaps it is better where you live, or if you are yourself a doctor. Not to mention, switching obstetricians in mid-pregnancy is generally difficult.
6. While the OB has possible seen many pregnancies (or maybe they're fairly fresh, yet), it is likely that the breadth of responses here may exceed the breadth of experience of the OB (Yes, the *depth* of these responses of course will usually be less here). It is likely that the combined experience of responders will be reasonably correct, and may in fact bring additional considerations into focus that the OB did not mention.
Though I acknowledge you have a point, I don't think the OP was expecting instant expertise to trump the OB.
There seems to be a trend of mutual disregard between doctors and their patients; Doctors can be dismissive of patients' attempts to educate themelves, and patients can underestimate the amount of education necessary to be a competent doctor. I think that (some) individual doctors think too highly of themselves, and (some) patients don't think highly enough of the profession.
posted by RikiTikiTavi at 3:41 PM on April 12, 2006
Response by poster: Ikkyu2 and Riki:
In the doctor's defense (sort of), these tests are only good for screening, not a diagnosis. So all you really can ever get out of the test is a statistical range. There's really nothing more to explain except the 1/x chance. If you want a yes-no diagnosis, it's amnio time. In fact, the best way to think about the test is that it tells you whether or not you should get an amnio.
That said, it was a very frustrating experience. We didn't even meet with the doctor, just a "genetic counselor." It was obvious that she had just punched the data into a computer and gotten back the 1/280 number.
Thanks to everyone who commented.
posted by Mid at 4:52 PM on April 12, 2006
In the doctor's defense (sort of), these tests are only good for screening, not a diagnosis. So all you really can ever get out of the test is a statistical range. There's really nothing more to explain except the 1/x chance. If you want a yes-no diagnosis, it's amnio time. In fact, the best way to think about the test is that it tells you whether or not you should get an amnio.
That said, it was a very frustrating experience. We didn't even meet with the doctor, just a "genetic counselor." It was obvious that she had just punched the data into a computer and gotten back the 1/280 number.
Thanks to everyone who commented.
posted by Mid at 4:52 PM on April 12, 2006
Just to be perfectly clear, no offense meant to any doctors happening to be reading; doctors are good :). Just speaking to the breakdown in communication that seems to have worsened lately.
posted by RikiTikiTavi at 5:23 PM on April 14, 2006
posted by RikiTikiTavi at 5:23 PM on April 14, 2006
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No matter how much you plan, this is not something you are in complete control over, and for the vast, vast majority of people, things turn out beautifully. Remember - every last one of us has some abnormality. We deal. Good luck!
posted by clarkstonian at 6:14 AM on April 12, 2006