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First trimester genetic testing

post #1 of 19
Thread Starter 

So, I thought my husband and I had agreed that we would pass on this, as we talked about "what if" there was autism or downs syndrome, but we both felt that we couldn't terminate for that as there's a wide spectrum of what it could mean. However in the doctors office, he didn't back me up on that. She gave us the packet in case we want to do it, but didn't have any literature (except in spanish) to give us.


I was concerned until he explained his position. A relative in his family had a baby girl who suffered some disease, we don't know what exactly. She died at 7, but her whole life was entirely dependent on others - I'm not talking about developmental delays, but NO development, ie her hand was clenched in a fist from birth and fused that way. She could not do anything herself, she was like an infant her whole life. From his experience, she suffered her entire short life, and he doesn't wish that kind of quality of life on anyone. While I agree that if we knew that was going to be our child's fate, that's the only way I'd consider terminating, I'm just not sure if that's reason enough to get the testing done.


Because, even if we find out what she had and check the tests for that, I don't know that the tests are accurate enough (especially this early) to predict the extent of the disease, just like we wouldn't know if it was mild or severe autism (or anything) with any degree of certainty.


I need more research into this, and I'm working on it, but I'd love to hear from some of you about your knowledge or experience with this test.


By the way, we didn't discuss it further yet since that conversation but he mentioned leaning towards not taking the testing at this point. (We both agree that if there's a test result that would change the doctor's approach in delivery/treating me and the baby, then there would be reason to take it. But if the sole reason is to decide on termination, it's a different story.)




post #2 of 19

I think for all the genetic diseases that would fit that description the easiest way to see would be to have your hubby tested to see if he's a carrier. if he is, then they would also test you to see if you're a carrier, for the baby to have it you would both need to be carriers and and the baby would have to inherit it from both of you. if you're wanting to do that you probably want to talk to a genetic counselor who is trained specifically in helping you determine if the baby is at risk for a genetic disease and if they were would help in understanding what that might mean. 

post #3 of 19
Thread Starter 

Thanks. The test may be a Nuchal Translucency Test? I have to check the paperwork at home. It requires us sending blood samples in the mail and getting a special ultrasound. I'm concerned because of the number of false-positives I read about, and further testing to eliminate that worry have a small chance of causing death to a perfectly healthy baby.


From what I've read, I'm more likely to agree to the quad screening, because that could affect things like the birth plan or treatment in utero.


My doctor did say that we are much less likely to have genetic issues that run along racial lines, since I'm caucasian and he's mixed race (no caucasian)  :P  But maybe I'll see if he can ask his mom what his relative's baby had, just so I can ask the doctor specifically about that.

post #4 of 19

the standard first tri test isn't going to test for what you're worried about. there they're mostly looking for Down Syndrome and spinabifida, and the false positive rate is huge. you'll want to get hubby the specific blood test and go from there (cause if he's not a carrier there isn't a point in further testing). and yes, the odds of you both being carriers for something like that are really low, especially if you're different races. 

post #5 of 19
Thread Starter 

Awesome, thank you for the advice! :D

post #6 of 19

It sounds like the baby girl relative had Trisomy 18.  It's very rare, but the clenched fists is a very common trait for it.  It's very rare to live much beyond birth never mind to age 7.  This trisomy has received some media attention recently because Rick Santorum's daughter Bella has it.


Anyways, they were probably talking about the nuchal fold screening.  It's not diagnostic, it can let you know if you are at higher risk than what your age alone is.  I've been AMA for all my births so I'll get it again (scheduled for 2 weeks from yesterday).  If you have a high risk, they might offer an amnio.  Which is invasive and is diagnostic.  You would never be told 100% through the nuchal fold testing if your baby had an issue or not.  If you want to know 100% if your baby has T18, you'll need amnio.  I would opt for the screening test first.  Amnio carries a risk of MC and the nuchal test does not.


The majority of the trisomies are not genetically inherited.  Age plays the biggest factor in risk.  Translocation DS is thought to be possibly inherited but it only makes up about 4% of DS cases.  Other genetic diseases like TaySachs and sickle cell are inherited and you and your partner can be screened for whatever you might be at risk for.  That is just a blood test for you and your partner.  I know whenever I've done my first initial appt, I've given a genetic worksheet asking about ethnicity and family diseases, etc.


This will be my 5th nuchal fold US and genetic counseling so I'm become rather well versed in the whole spiel. 

My age alone risk is rather alarming so hopefully the nuchal US will give me better results.







post #7 of 19

We do CVS. If you go to a specialist, then the risks are very low, equal to amino. I am older and I've found it very helpful to put my mind at ease. I did it with my last pregnancy without any complications and I'll do it with this one.


For me, I like information. Information gives me power.


(And I also have a friend with one of those terrible if only we had known no ultrasounds and homebirths who almost lost her daughter as a result of lack of information. Her birth resulted in brain damage which could have been avoided if she had birthed somewhere else. Terriblely sad. Baby had Trisonomy-related heart defect.)

post #8 of 19

I'm AMA and am thinking about the screening as well as diagnostic testing as well. I'm only 6 weeks so have a little time to figure it out. I don't think I would terminate, but it would be nice to plan. 


Has anyone heard anything about this MaterniT21 blood test that is supposed to be diagnostic? All I've found is this website (advertised on Mothering).... If it is available, I'd rather do that than a CVS or Amnio. Here's the website: http://www.sequenomcmm.com/home/health-care-professionals/trisomy-21/about-the-test/


Here is a video from CBS news:



Finnegansmom - in your experience with AMA and the screening tests - did you ever come back at lower risk than your age? It almost seems pointless to me to do the screening test with AMA.



post #9 of 19

Lulu my risks have always been way lower for my age after the nuchal US.  I had one with my last son, at age 38 (I was 39 when I had him) and I think my risk for T13 and t18 was 1:1000s?

I can't remember the exact numbers but the results were as good as someone in their 20s.  They were better than the results I got with my first son when I was 34/35.


post #10 of 19

Hi, I went back to find my results of my nuchal US last time.  I was 39 when my son was born. 


1:810 for downs and 1:10,000 for tri 18/13.

The risk for ANY chromosomal issue is 1:80 for someone age 39.

My NF measurement was 2.1 and he measured 8.3cm CRL.


These results were better than the results I got when I had my first son at age 34.

So hopefully my eggs are just getting better and better.  :)



post #11 of 19

Thanks for going back and looking at your last test results! That is great to hear. I'm really not sure what I want to do. Right now, I'm leaning towards no testing at all and just trusting. But then I worry. I'm not sure that getting decreased risk will make me feel better anyway.... Being 41, I'm at 1:50ish for any chromosomal issue. Which feels really high, but I keep telling myself that means 49 healthy babies!


I have a few more weeks to think about it anyway. sigh.

post #12 of 19

Hello All - 


This is my first time ever posting on Mothering, although I've been reading the forums for almost 10 years. 


Lulu - I too am 41 and I'm pregnant with my 3rd child.


I have 2 boys (9 and 6) and have historically had pretty non-invasive pregnancies and births. With each pregnancy, I've considered the tests that I was offered and almost always came away with the feeling that the results would just lead to MORE questions and worry and MORE invasive tests. Since I felt this way, I opted against having the triple-screen test (which my midwife tells me is now MORE comprehensive and is called the penta-screen) with both my pregnancies since they had such high false-positive/false-negative rates. It just seemed like a test that was invented to prevent lawsuits for doctors --not to help pregnant women get reliable information they can actually use. I sympathize with Hyjinx and all the questions she was asking about the VALUE of testing.


All that said, I was 31 and 34 when i was pregnant before and now that I'm 41, I'm feeling really scared by all those awful statistics. I told my homebirth midwives that I am considering all kinds of things I NEVER thought I would consider, including the nuchal translucency test at 12 weeks, the penta-screen blood test, and (ohmygod am I really saying it??) Amniocentesis. I still have a lot of questions about the implications of these tests and I'll continue to think about whether they'll really help me or just raise MORE questions.


At heart, I think I'm just a non-invasive kind of girl and wonder whether I'll wind up going about this pregnancy much the way I did the first two (with one US at 20 weeks, basic blood testing only, and a non-intervention homebirth with midwife). After all, pregnancy forces us all to face that we are NOT in control and that abandonment of control is part of the profound beauty (and good practice for parenthood). I may just decide that I need to go with it and take whatever comes...


On the other hand, I would love to discover that one of these tests could help put my mind at ease. I've been SO worried about this that I've been losing sleep. Something that's adding to my anxiety is that my boys go to a local charter school that welcomes a relatively large proportion of children with special needs. My older son is in a 4th & 5th grade classroom that includes 4 down syndrome kids. A wonderful, inclusive experience for him and ALL the kids in the room but I think my brain is having an out-of-proportion anxiety about my odds of having a DS child, based on the sheer numbers of these kids I interact with on a daily basis.


I think I will explore the MaterniT21 test first (does anyone know about it's expense?) and then consider the nuchal translucency US.


it's lovely to talk with other mamas who are facing similar dilemmas and fears! Thanks!


Edited by knittingmolly - 4/20/12 at 10:27pm
post #13 of 19

We're going for the basic blood tests, the NT scan, and the "Ashkenazi panel" since both DH and I are Jewish from E. European descent. I'm not a fan of invasive procedures, but I would want to be forewarned of any potential health problems. 


Just an FYI to the OP, but there's no prenatal test for Autism. 

post #14 of 19
I'm 43 and about 9 to 10 weeks along with my 3rd child. I had my first two in my early thirties . I found a great non-intervention doctor. He makes any screening that I want available but he doesn't really recommend or push any of them. So I appreciate his attitude a lot but still question whether I should go ahead and schedule the ultrasound for the nuchal fold test or measurement. I think some of his great non testing and non intervention attitudes come out of his personal faith but he answered all of the questions honestly and was clear that I could have any tests I wanted.

I truly appreciated that he treated me like a valid human being and not like just a vessel for a baby.
post #15 of 19

I was intending to do the entire sequential integrated screen...nuchal fold by u/s and blood work.  Mostly becuase if there was information to find out that would change how I wanted my pregnancy care managed, I would want to know.  Well, with twins it jsut isn'tas accurate.  So, we got the nuchal fold measurements and we'll do the AFP for open nueral tube defects in the second tri.  But, not doing the complete sequential now. 

post #16 of 19

Just an update on how my testing decisions have evolved --it case it helps others with their decisions. I followed a lead I found here on the Mothering Boards about a test called MaterniT21 that supposedly gives very reliable (98% accurate) indication of Down Syndrome and also tests for Trisomy 13 & 18 (without quite the same accuracy --but still very good), with a simple, non-invasive maternal blood draw. 


I asked my midwives about it but they had never heard of such a test --didn't even believe such a test could exist! They called some perinatal clinics/genetic counselors in town and discovered that these tests are SUPER new. I've spoken to a genetic counselor myself who recommended NOT the MaterniT21 test, but a comparable test made by a company called Verinata. The test is called VERIFI. It's expensive (being offered as a special right now at $495 (I guess it's usually over $900). After all the extended costs (for genetic counseling appt, and an ultrasound to confirm my dates --I have to be 10 weeks for the test to be accurate --we will spend around $875). We have a $2400 deductible anyway, all of which will go toward all birth expenses, so we may as well start spending it now!


I figure that this test can also replace any other tests I might take along these lines. I'll just skip the Nuchal Translucency and the penta-screen blood test, since neither gives reliable information compared with the verifi test. 


Apparently the test isolates and examines fetal DNA in the mother's blood and specifically looks at chromosomes 13, 18, and 21. Here's an article I found that tells more, for those who are interested:




I go take the test tomorrow and fingers crossed that all will be normal and perfect with the little baby!!! ANOTHER EXCITING THING: according to the article above, the test also reveals gender (makes sense, since it examines DNA) --how exciting to know the gender at only 10 weeks!! 


wish me luck and a good healthy baby! I wish the very same for all of you.



post #17 of 19
Thanks. I think I'll call about that.
post #18 of 19

Just an update for anyone who may be wondering. I took the verifi test at 10 weeks (i'm 15 weeks now) and a week after I took the test I got results. My results were NORMAL!! That means that only TWO (rather than three) chromosomes were found for chromosomes 13, 18, and 21.


Turns out the test ONLY looks at chromosomes 13, 18, and 21, since those are the three responsible for the most common chromosomal disorders. When 13 and 18 have THREE chromosomes (trisomy) it's VERY serious --baby probably won't live past a year, if they make it to birth at all. When there are THREE of chromosome 21 the result is Down Syndrome. 


I was hoping that the test would look at the sex chromosomes so I could find out gender at only 10 weeks, but sadly, NO. The genetic counselor tells me that that is probably in the horizon for the future...


I'm SO happy that things look normal (at least chromosomally) and I've decided to not let myself worry about other random things that COULD go wrong. 


i hope this is helpful to someone out there! best of luck to all of you!



post #19 of 19

I had screening done at 11.5 weeks. We both had agreed years ago that when we finally got pregnant, we'd screen. It would definitely be a key factor in our decisions, but I digress.

I think I had that MaterniT21 test, not sure. They drew blood, and screened for the trisomies. That, in addition to the NT scan checking the neck and nasal bone, all added up to super low risk for me. I'm 27 and I came back with the odds of a super healthy 18 year old, supposedly.  This was the big test we were holding our breath for, so once it came back healthy we're much more comfortable. I'm just glad it wasn't super invasive and still gave us the information we wanted!


Also, cost: apparently my insurance covered the whole thing O.O I didn't even have a copay.

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