WWYD re: genetic testing

[Wonderwall]

Good morning ladies, 

I had an appointment yesterday and we got to see our critter. Strong heartbeat and right on track.   <)

I think this may have been asked before but I thought I'd post anyway...

Our next appointment will be at 11 weeks right around the time when the genetic screening would take place. I'm not quite 35 (I'm 32) but it's being offered to me anyway through the state and my provider and I'm feeling very torn on whether or not to do the testing.  

I understand that for 1 it's not 100% accurate and that if it does show some markers I'd have the option to confirm  the results via amnio- but I also understand that there are some very real risks involved in doing an amnio test as well.

Here are my questions: 

If you have been given an option to do genetic testing did you decide to do it or not to do it?


Why did you decide to do the testing or why did you decide to NOT do the testing?


I just need to bat this around a little bit more and would love to hear your thoughts and feedback. 

Thanks

[Poppy]

We are doing the NT scan and will consider further testing even though I'm only 29. Two primary factors drove our decision:
1) Heartbreaking anecdotal stories from ladies whose children had severe medical issues - I know it's rare but it happens
2) We are not "it doesn't change anything" people

[Deleted]

What are you referring to exactly when you write "genetic screening"? Are you talking about something like the cystic fibrosis screening, NT scan and bloodwork or a blood test like Maternit21?

I would do any of the above if it was covered since there are no risks and we wanted as much info as possible. The Maternit21 was not covered by our insurance so we didn't get it but got the other test I mentioned. I am 31 btw.

[formerlyak]

I am 38 now, so I will talk about why I did it with my first pregnancy when I was 30 (so closer to the age you are). I did do the first trimester screening with my first pregnancy. We knew we wouldn't terminate unless they found something that would make it impossible for the baby to live outside my body. However, we felt that if the baby was going to have Downs or Trisomy 18 or the like, we'd want to know early so that we could research what that meant, what support was available to us and how we might best care for a child in that situation. We'd rather be informed and not end up needing the information (because the test just shows if you have increased risk) than be uninformed and find out in the hospital that we have a newborn with special needs. We weren't going to do the amnio either way because I refused to have a ginormous needle stuck in my belly.

This time we did the same testing I did with my first, but opted out of the M21 and Harmony and those. I was told if the regular state screening or nt scan came back with a higher risk, I could do the additional blood test at any time as they weren't as time sensitive as the nt scan. So I just did the nt scan and accompanying blood work. For my age, all the numbers showed I was very low risk (1 in 11,000 for Tri 18 and 1 in 220 for Downs), so we didn't do any additional blood work.

[formerlyak]

Oh, and because of my age, any of the additional tests I would have chosen would have been covered by insurance because my insurance considers me high risk for everything due to age. My doctor and I just didn't feel they were necessary with the nt scan and blood results.

[VillainV]

1. We decided to do the testing. I'm 33. It's offered to all patients in the military healthcare system regardless of age.

2. We strongly feel that more information is better than less information. We understood how the screening worked and how the results would be presented, and decided we would want to know if we were at higher risk so we could discuss the option of testing. We didn't discuss what we would do with positive test results if we ever got them, because honestly there's no way to really know what you would do unless you find yourself in that situation. I'd like to think we wouldn't terminate (that's not really how we think most of the time), but I'm sure there would have been circumstances that could have led us down that path. Really, we just figured that if the baby had a chromosomal abnormality, we'd want to know sooner rather than later so we could discuss options for genetic counseling, get resources lined up, etc.

[narockshard]

We were given the option to do testing, although I don't think it had anything to do with my age (26), but we decided not to do it. We are firmly in the camp that any life will be valued by us. Do I have some worries and fear? Sure. But I know we are able to handle whatever comes at us, so we're content with whatever happens. Plus dang, I felt a connection to this peanut from the moment I got 2 pink lines, so I could/would never have been able to do anything anyway. But I definitely see the value in wanting to be prepared.

[MrsDarcy]

With my first pregnancy (at 29), I was offered and did the NT scan. I'm very conflicted as to whether or not I'll do it again (I'm 32). I guess I'll ask my MD next week.

[bowies]

I will be doing the NT scan and bloodwork. I chose to do it because I'm 33, a high-risk pregnancy, and the results will matter to us.

[D2M]

It's definitely interesting to see who does what tests and for what reasons. In my area and among my circle of friends, testing seems to be a given. At 8 weeks (my first appointment with my OBGYN), I did the Counsyl genetic blood screen, which tested me to see if I was a carrier for 100 genetic diseases such as Cystic Fibrosis, Tay Sachs, etc. My doctor said this was totally optional but my husband and I figured more information was better than less, so we went for it. It was $99 out of pocket and everything came back clear.

I also did the NT scan and bloodwork, largely because it gave me huge peace of mind. My doctor really encouraged this test. If I had gotten iffy numbers from this test, I may have proceeded with an amniocentisis, but I'm not sure. I knew I didn't want to do an amnio without any sort of clue as to whether it was really necessary. That needle freaks me out. I'm not doing the Materniti21 test.

[Jalapeñomel]

I was 34 when I was pregnant, and I was not offered the testing.

[picksthemusic]

With DD, we didn't get any testing done because we are in the 'it won't change anything for us' camp, except in the instance of incompatibility with life. I should mention we are Catholic.

Then, we had our m/c in July and the chromosomal testing showed Trisomy 11. It's super rare and always ends in m/c, so there was nothing we could do anyway.

I think this time around, I'll at least get the NT scan if nothing else, and consider the M21 or the quad screen.

[Wonderwall]

Dec 11, 2013 12:22:27 GMT -5 @missy1 said:

What are you referring to exactly when you write "genetic screening"? Are you talking about something like the cystic fibrosis screening, NT scan and bloodwork or a blood test like Maternit21?

I would do any of the above if it was covered since there are no risks and we wanted as much info as possible. The Maternit21 was not covered by our insurance so we didn't get it but got the other test I mentioned. I am 31 btw.

All of them were mentioned and offered to me yesterday but they made it clear that they were optional for me.

[catsarecute]

We did do genetic testing.

The main reason we chose to do the testing was so we could have an ultrasound. Our first u/s was at 6 weeks and the baby was a dot. I knew seeing the baby at 12 weeks would be a huge milestone and we used that u/s as a marker to spread the news to friends and family. While I was worried about the results (ours came back with a negative risk), I knew it wouldn't change anything for us. I think it is important to talk about the "what ifs" ahead of time and have a plan but for us, it was a no brainer to go forward with the testing.

Oh, something else that made it an easy decision is my age (34) and our trouble TTC. It took us 4 years.

[Wonderwall]

Dec 11, 2013 12:46:44 GMT -5 MrsDarcy said:

With my first pregnancy (at 29), I was offered and did the NT scan. I'm very conflicted as to whether or not I'll do it again (I'm 32). I guess I'll ask my MD next week.

 MrsDarcy

Can you share with me why you are conflicted? 

[MrsDarcy]

Dec 11, 2013 14:07:29 GMT -5 Wonderwall said:

Dec 11, 2013 12:46:44 GMT -5 MrsDarcy said:

With my first pregnancy (at 29), I was offered and did the NT scan. I'm very conflicted as to whether or not I'll do it again (I'm 32). I guess I'll ask my MD next week.

 MrsDarcy

Can you share with me why you are conflicted? 

Conflicted may be too strong of a word. I know several people who had false positive with the NT Scan and it caused a lot of undue stress. I just can't decide if it's worth it to me. I'm still younger than AMA (but not too much under), so I kinda feel like I'll be ok. But then again, why wouldn't I want to know everything? I just wish the NT scan was more definitive as some of the other testing is. I just don't know what my insurance will cover. I just haven't decided (if you can't tell).

[VillainV]

Dec 11, 2013 14:23:51 GMT -5 MrsDarcy said:

Dec 11, 2013 14:07:29 GMT -5 Wonderwall said:

 MrsDarcy

Can you share with me why you are conflicted? 

Conflicted may be too strong of a word. I know several people who had false positive with the NT Scan and it caused a lot of undue stress. I just can't decide if it's worth it to me. I'm still younger than AMA (but not too much under), so I kinda feel like I'll be ok. But then again, why wouldn't I want to know everything? I just wish the NT scan was more definitive as some of the other testing is. I just don't know what my insurance will cover. I just haven't decided (if you can't tell).

The NT scan isn't a test, it's screening.  It doesn't give positive or negative results, it only tells you whether your risk is high or low.  If you're at high risk, then there is the option for additional screening (MaterniT21/Harmony/etc) or testing (CVS or amnio).   There is no such thing as a "false positive" on an NT screening.  I think a lot of doctors don't really explain this to their patients, and people get scared when they think there is a high rate of false positives.  Really, if someone gets a high probability result from NT screening, say 1 in 100, then everything turns out to be fine, they are just one of the other 99 out of 100 (statistically speaking).    

Having said that, it's not as good of a screening as MaterniT21/Harmony/etc, so if those are an option, then it would make more sense to go with one of those.   

[MrsDarcy]

Dec 11, 2013 14:31:15 GMT -5 VillainV said:

Dec 11, 2013 14:23:51 GMT -5 MrsDarcy said:

Conflicted may be too strong of a word. I know several people who had false positive with the NT Scan and it caused a lot of undue stress. I just can't decide if it's worth it to me. I'm still younger than AMA (but not too much under), so I kinda feel like I'll be ok. But then again, why wouldn't I want to know everything? I just wish the NT scan was more definitive as some of the other testing is. I just don't know what my insurance will cover. I just haven't decided (if you can't tell).

The NT scan isn't a test, it's screening.  It doesn't give positive or negative results, it only tells you whether your risk is high or low.  If you're at high risk, then there is the option for additional screening (MaterniT21/Harmony/etc) or testing (CVS or amnio).   There is no such thing as a "false positive" on an NT screening.  I think a lot of doctors don't really explain this to their patients, and people get scared when they think there is a high rate of false positives.  Really, if someone gets a high probability result from NT screening, say 1 in 100, then everything turns out to be fine, they are just one of the other 99 out of 100 (statistically speaking).    

Having said that, it's not as good of a screening as MaterniT21/Harmony/etc, so if those are an option, then it would make more sense to go with one of those.   

I realize it's a screening, and by "false positive", I meant just as you said - a high probability. My doctor explained it to me, but I was just trying to relay to the OP why I may not do the scan again, in my own words.

[winemaker06]

I did cystic fibrosis screening and I was given the option for an NT scan and took it. I'm 29 years old.
None of my friends have opted for the NT screening because they 'wouldn't terminate or do anything differently' but I felt that more knowledge is power and did enough research to find that the screening shows more than just chromosomal disorders.

The bloodwork that went along with the NT screening found that I have low PAPP-A, which is a marker for a baby that's small for gestational age. This could be caused by placental issues, IUGR, or who knows what else. It could also mean absolutely nothing according to my doctor. Either way it puts me in the high risk category.

Yet my pregnancy has been completely normal other than many extra, detailed ultrasounds. At 29 weeks, baby is growing perfectly and I'm really not that worried. If I didn't do the NT I wouldn't even have this to worry about. But then I wouldn't have the additional screening to find a potential problem early either.

So personally I don't regret the additional testing and feel confident that it helps my doctors make sure everything is fine.

[SJ]

Dec 11, 2013 12:11:58 GMT -5 MNH2013 said:

If you have been given an option to do genetic testing did you decide to do it or not to do it?
We decided to do the testing at 11 weeks. I am in the camp of "I'd rather know and be prepared". It was an added bonus that it also told us the gender.

Why did you decide to do the testing or why did you decide to NOT do the testing?
My SIL decided not to even though she is older (than me). I understand reasons for both sides. I can also see where it would cause worry if you are a worrier. My curiosity is stronger than my worry.

This is how I feel. I am not a worrier and I prefer more information to less.

I initially turned down the NT scan, but DH thought we should do it, and I wanted to see the baby again on another US so we called back and scheduled it.

[kershnic]

The NT scan and quad screen were not presented to me as optional, though I would have chosen to have them if it was presented that way. MaterniT21/Harmony/etc are not accurate for twins, so I didn't do them, but I absolutely would have for a singleton. I would always rather have more information than less.

[earlgreyhot]

Dec 11, 2013 14:31:15 GMT -5 VillainV said:

Dec 11, 2013 14:23:51 GMT -5 MrsDarcy said:

Conflicted may be too strong of a word. I know several people who had false positive with the NT Scan and it caused a lot of undue stress. I just can't decide if it's worth it to me. I'm still younger than AMA (but not too much under), so I kinda feel like I'll be ok. But then again, why wouldn't I want to know everything? I just wish the NT scan was more definitive as some of the other testing is. I just don't know what my insurance will cover. I just haven't decided (if you can't tell).

The NT scan isn't a test, it's screening.  It doesn't give positive or negative results, it only tells you whether your risk is high or low.  If you're at high risk, then there is the option for additional screening (MaterniT21/Harmony/etc) or testing (CVS or amnio).   There is no such thing as a "false positive" on an NT screening.  I think a lot of doctors don't really explain this to their patients, and people get scared when they think there is a high rate of false positives.  Really, if someone gets a high probability result from NT screening, say 1 in 100, then everything turns out to be fine, they are just one of the other 99 out of 100 (statistically speaking).    

Having said that, it's not as good of a screening as MaterniT21/Harmony/etc, so if those are an option, then it would make more sense to go with one of those.   

We did the NT scan only when I was pg with DS. I was 31 at the time and it came back with a low, low risk so we didn't proceed. We'll likely do the more advanced screenings this time as I am now 35 and my risks are greater. I'm firmly in the camp of knowledge is power. Sure there is a lot of stress during the testing process waiting on results and sifting through the risk assessments, but once you've gone through it you are able to rest easy and not worry about it any more.

[pixiedust]

We prefer more info as well. I'm only 27, so we initially did NT scan + associated bloodwork. Some materials from the state made this sound like the baseline for testing, though of course all providers are different. Because of heritage, I'd already had testing to see if I was a carrier for any of the diseases that are more prevalent in the Jewish community--this happens to include cystic fibrosis.

[speckledfrog]

We did the NT screening, got elevated risk results, and followed up with an amnio. This happened for both pregnancies. We are only having two, but if I were to get pregnant again I would just go straight to amnio. because it is definitive results done quickly. We would have terminated if there were genetic abnormalities, but I do think that knowing for sure before the baby comes has a lot of benefits. You can deal with your grief, in part, without the extra drain of having a newborn, you can research and choose specialist, you can find support groups, etc. I would hate to be hit in the face with all of that seconds after giving birth.

[statlerwaldorf]

We decided to do the NT scan and blood work. We didn't do it with my first pregnancy (20) and I'm only 26 now. It isn't very common here and I had to ask for it. The big thing is that I have to travel to a hospital in a bigger city to have it done, but that wasn't a big deal to me. I would just like to be prepared.

[sonrisa]

We did CVS both times and I'm really glad we did. It provided such peace of mind.

[dragonfly08]

Dec 11, 2013 14:31:15 GMT -5 VillainV said:

The NT scan isn't a test, it's screening.  It doesn't give positive or negative results, it only tells you whether your risk is high or low.  

This is exactly why I did not have any of the screening tests done, even though I was 32 and 35 when my kids were born.  My OB agreed that unless I was willing to have follow up procedures like an amnio, then the screenings weren't helpful.  And I wasn't, due to the risk of m/c (admittedly still low, but as it happened to my aunt just two years prior it wasn't something I was willing to risk).  My kids are a little older, so things like the MaterniT21, etc. were not available then.  My main worries were Down Syndrome and Spina Bifida, so we could be prepared and make any necessary arrangements for delivery, and my OB said that a Level IV u/s would be as effective at evaluating those as any of the blood tests so we went that route instead.

[stealthmom]

I compromised (in my mind) and did the M21. I like that it gives you a definitive result. 99% accurate.

It's a long story but I ended up getting an amino anyway and it was nbd. So if there is a next time I'll probably go straight to that.

Good luck. My only piece of advice would be to not let anyone tell you this decision is about whether or not you'd terminate. There is SO much more to think about and consider even if termination is not on the table.

[osulori]

I was 31.5 when I found out I was pg with AJ so not much younger than you are now. We opted for the NT scan so that we could find out whatever information we could in the event that something came up that put AJ at higher risk of having Down Syndrome or one of the other trisomies, etc. And because it meant another u/s and I figured why not get another look at our baby since my insurance would cover it

[redpenmama]

I had the option to do it both times and declined it both times.

If the tests were 100% absolute, I would do them. But, false positives exist (and are even common in some tests), which can lead to needless worry and additional, perhaps unnecessary, testing. In addition, my OB said that the next step after the test would be an amnio, which I would not do because of the miscarriage risk. So, where would the testing really have left me if I got questionable results? Worrying for the rest of the pregnancy.

I totally understand why people get it, and I would reconsider if I am pregnant over age 35 or had a family history of genetic disorders.