Genetic counseling/testing/screenings? « Back to Group Discussions

[Jennyanydots]

Hello ladies! I have been lurking more than posting, waiting to see if I'd miscarry again before getting my hopes up. We had our first MW appointment and a dating US yesterday (my due date is either 9/30 or 10/1, so where do I belong? Lol), and everything looked good, so I'm going to throw caution to the wind and start thinking like a pregnant lady

Anyway, at both appointments I was asked what I want to do about genetic testing and other screens. I guess I was oblivious to this stuff in the past- my DDs are older, and with DS I guess either our MW didn't stress it or I just didn't think twice about declining. Maybe because I've crossed over that magic age of 35 I should just expect to be bombarded by this stuff.

I'm not sure what, if any, testing we are going to opt for. I'm not even sure I understand our options. Any thoughts on this? Does anyone want to share what tests you're going for and how you decided?

[beep]

We'll do nuchal translucency testing, the quad screen, and a 20-week anatomy scan. Based on our calculated risk, we will consider amniocentesis only if we are high risk for genetic problems. The general principles are: gather all information possible using noninvasive, lower-risk tests, and consider invasive testing only if the information to be gained will likely change management of the pregnancy/birth/neonatal period.

[mattie426]

I think it depends on if the outcome of the test would change your actions.  We aren't doing anything except the anatomy scan, because unless the baby has some major viability problem, we would not terminate the pregnancy, or do anything differently.  For us, it is kinder to terminate a pregnancy than allow our baby to die slowly over a few hours or days.  Other than that kind of issue, we aren't going to terminate the pregnancy, so what is the benefit of all those screenings (not definitive tests)?  There are risks, so the benefits don't outweigh the risks if we aren't going to change what we do.

[nettlesoup]

We decided not to go for the screening for Down's Syndrome. My midwife asked me if I would abort if there was a problem, and I said no. So she said there is therefore no point in having it checked if you'll be keeping the baby either way. And even when they say there is a higher chance, it's still very unlikely.
 

[splath]

I will be over 35 when I deliver (which puts me into ama), and we're not having any of the testing done.  I am doing the routine 20 week u/s but that's it. 

[dakipode]

Terminating a pregnancy based on a test is not the only reason to get a test. You could get it, knowing that you would never terminate, but so that you would be more prepared if your child is going to have special needs. If you knew beforehand you could start doing research on resources available in your community etc. rather than being completely overwhelmed with not only a newborn but one with special needs the day he/she is born...

Personally I'd like to get the NT test and the 20 week anatomy scan. The rest will depend on the results of the first test. I'm under the magical age of 35 but my big reason for wanting the NT scan is that I have absolutely no clue about my own genetic history as I was adopted.

[nettlesoup]

That makes sense, Dakipode. I'm also going to get the 20 week scan just to make sure everything's okay. My other reason for saying no to the testing is that if there was a higher chance for me, I wouldn't want to risk an amniosentesis, so either way I'd never know just how much of a risk there was.

[HookZenYarn]

There is actually a non-invasive test called MaterniT21 that can check for trisomy 21, 18 and 13, and only requires a blood sample from Mom's arm. I had it done as my insurance covers it, and it would not risk the baby. I would want to know if there was some sort of genetic abnormality, as Trisomy 21, for example, often causes a newborn to have issues with its heart that may need immediate intervention.
 

[mrsandmrs]

I am planning to have the NT ultrasound scan, but not the accompanying blood work, as it's frequently falsely positive for twins. I'm getting the maternit21 test as well as the anatomy scan. I'm declining the quad screen because, again, there are issues with the results for twins. It was difficult to decide what we wanted / needed.
Edited by mrsandmrs - 2/21/13 at 8:41am

[SuzieSmiles]

I did the 8 week u/s just for viability (and it was a milestone for us due to the m/c we had last summer)... We declined most tests other than the routine blood work and  we are planning to do the anatomy scan around 18-20 weeks. I am 39 and will be turning 40 at the end of Sept. so I am definitely AMA, but don't want all of the stress from lots of tests, waiting and all of the potential false positives.

I have probably done far too much research on this subject... I have read of false positives causing a stressful and worrisome pregnancy and everything turned out fine. Also, read accounts of women who did all the tests, got some 'markers', made the decision to terminate and found out the baby was perfectly healthy. This along with the possibility of the more invasive tests having the potential to actually cause a miscarriage (although the percentages are low, they are still there), just not worth it to me. I do want to say that I completely support anyone that has decided to test or not test, it's such a personal and hard decision and I wouldn't push my views on anyone else:)

[LivingSky]

Originally Posted by beep 

We'll do nuchal translucency testing, the quad screen, and a 20-week anatomy scan. Based on our calculated risk, we will consider amniocentesis only if we are high risk for genetic problems. The general principles are: gather all information possible using noninvasive, lower-risk tests, and consider invasive testing only if the information to be gained will likely change management of the pregnancy/birth/neonatal period.

This is what we have decided to do as well. We also followed this path with our DS.

Originally Posted by dakipode 

Terminating a pregnancy based on a test is not the only reason to get a test. You could get it, knowing that you would never terminate, but so that you would be more prepared if your child is going to have special needs. If you knew beforehand you could start doing research on resources available in your community etc. rather than being completely overwhelmed with not only a newborn but one with special needs the day he/she is born...

Personally I'd like to get the NT test and the 20 week anatomy scan. The rest will depend on the results of the first test. I'm under the magical age of 35 but my big reason for wanting the NT scan is that I have absolutely no clue about my own genetic history as I was adopted.

Yep, this - even down to the me being adopted! DH's dad was also adopted so there are a lot of question marks in our family health history. We plan to birth in a birthing suite about ten minutes from the hospital, and if the baby may have special needs, we would change that plan to birth in hospital instead.

[nettlesoup]

Suziesmiles, that's exactly our reasoning, except you put it way better than me. Although I'm only just 30 so don't have the age risk yet.
 

[mrsandmrs]

suzie - i did a lot of reading about it too. (maybe too much). i am only 30, but the information about what is good and accurate for multiples pregnancies is so conflicting. the high #s of false positives really set off my 'mama bear' instincts. i just do not want to be told that something is wrong when it is probably fine. obviously everyone feels this way, but i really question my ability to handle that information. the maternit21 was an easy decision for us because it's non-invasive (just a blood test) and it's so close to 100% accurate with multiples. i can most likely avoid cvs and amnio by just having a negative m21 - which i am certain will be the case. i believe we would not terminate, but we would want to be prepared for any special medical needs, as dakipode mentioned. having a "high-risk" multiple birth is stressful enough, so i want to be at the right hospital if someone needs something extra.... blah, these decisions have been the hardest thing for me so far. talking to the genetic counselor at the company that runs the maternit21 tests helped me a lot. and reading a lot of medical journals, and talking to my friends who have gone through this. it has been challenging. 

[chispita]

We'll be doing the NT scan next Monday, and the anatomy scan around 20 weeks.

We decided that though we're on the fence as to what we would do about a baby with Down's, we are worried about some of the other trisomies, so we'd rather know.

[Rhoze]

We decided on MaterniT21 blood test, which was done Monday and we should get the results next week-ish.  No miscarriage risk, lower invasive test, and I'm very comfortable with their false-positive and false-negative rates (very low).  For me, it is about being prepared and the fact that I might not have a home birth under certain circumstances.  Added bonus is finding out the gender early.

FWIW, my insurance probably won't cover this test so I called the company.  For anyone who's insurance denies coverage, the cost will be $235, that's it.  For a ~$2700 test, this is a great deal.

[lmcphee]

We did the NT scan and Maternit21 on Tuesday.  I hope to see results in about two weeks.  

[SuzieSmiles]

Originally Posted by mrsandmrs 

suzie - i did a lot of reading about it too. (maybe too much). i am only 30, but the information about what is good and accurate for multiples pregnancies is so conflicting. the high #s of false positives really set off my 'mama bear' instincts. i just do not want to be told that something is wrong when it is probably fine. obviously everyone feels this way, but i really question my ability to handle that information. the maternit21 was an easy decision for us because it's non-invasive (just a blood test) and it's so close to 100% accurate with multiples. i can most likely avoid cvs and amnio by just having a negative m21 - which i am certain will be the case. i believe we would not terminate, but we would want to be prepared for any special medical needs, as dakipode mentioned. having a "high-risk" multiple birth is stressful enough, so i want to be at the right hospital if someone needs something extra.... blah, these decisions have been the hardest thing for me so far. talking to the genetic counselor at the company that runs the maternit21 tests helped me a lot. and reading a lot of medical journals, and talking to my friends who have gone through this. it has been challenging. 

mrsandmrs - I totally feel you on the "maybe too much" reading/research thing and can only imagine how having twins would add to the complicated decisions about testing! It is so difficult to decide what is best isn't it... I'm planning a home birth and my midwife is completely mellow about whether or not I do any tests, she's very supportive either way, love that about her:) 

[splath]

We had a huge false scare with my second pregnancy that cause d a lot of undue stress and I want to avoid that this time around. I was really even iffy on getting the 20 week u/s.

[letniaLynne]

Does anyone know the deadlines for getting the maternity21 testing? How many weeks?

[mrsandmrs]

letnia - i have not heard a cut-off for when you can't have maternit21. i know you can do it as early as 10 weeks. i'm doing it at 13 weeks. if you plan to follow up with a CVS or termination, the timing might be more sensitive, but since they are testing the genes that are in your bloodstream, it seems logical that it would work any time after 10 weeks - which is great because it's more flexible than the other tests that have to be done at a certain time. i'm not an expert but i have found the counselors at sequenom (the maternit21 lab) to be really responsive and helpful when i have called. their number is 877-821-7266 and you can just navigate the menu directly to the counselors.