Genetic Testing!

fitmomma1989 · April 2015

Hey ladies! Had my first OB today and my doctor went over all the possible genetic testing with us. Pretty overwhelming! Are any of you ladies going to do any of the tests? Which one(s)?
Thanks for any input! :-)

weaverinc · April 2015

I am doing the first trimester screening which consists of an ultrasound and blood tests. I guess the results of this one will determine if I do more along the way.

aliciabethRN · April 2015

I never have with any of my pregnancies. I don't have any genetic issues on either side and even if I had somethin come up positive I wouldn't terminate the pregnancy. So I never saw it as something I needed to do.

TacoSarah · April 2015

I have a rare chromosomal abnormality and have a 50% chance of passing it on to my offspring. I met a genetic counsellor yesterday and whilst they can test the baby inutero they can't determine the severity of the if the test is positive. And the only way to test is through amniocentesis. So I've decided not to go ahead. I think the risk to the baby out weights the benefits of knowing as there's no cure and it will have been decided at conception so can't prevent it.

I'm looking on the positive side, there's a 50% chance that the baby won't have it.

linnea625 · April 2015

I have an enzyme deficiency that could be passed on to the baby if my husband has the same recessive gene. Basically it would cause major developmental problems if the baby were given milk. So I think we'll test my husband first since if he doesn't have the gene then we are safe. If he is a carrier we will have to test the baby.

Pontot31 · April 2015

My insurance won't cover any of the testing until you're 35.
It's a good idea to start with insurance if you're under 35.
I didn't test with my last and don't plan on it with this one. I'm 34.

blinky2112 · April 2015

Wanna hear a crazy story about genetic testing?

The results came back for my first child (son) and they were awesome results. The phone rep that told me that the results said he had less than the average likelihood to have any generic issues. Great right?

Then the rep went on to try to sell me more testing, just in case! WTF is THAT? !

I declined extra testing, cause really, less than the average likelihood is pretty darned good.

My son is 2.5 yo now and completely on track with all development during his whole life.

BP1979 · April 2015

I'll be doing the Materni21 test due to my age and previous miscarriage of a baby girl who had Downs. Hubby and I would never terminate pregnancy due to any findings. However, if we do have a child with an abnormality, it will give us time to research and learn about what we need to know/do for our baby. Also, it will allow or doctors to be prepared at birth in case medical interventions are necessary.

tgthomas7 · April 2015

Outside of the routine testing I m not doing any genetic testing. My doctor asked a very good question, she said "If you test and something comes back what would you do?" She explained if your answer is nothing then why worry yourself. She is right because we wouldnt do anything.

eablankenship · April 2015

"Not doing anything" is not the perspective in looking into genetic testing. Even if termination is outside of the realm of possibilities, prenatal diagnosis of many conditions leads to better preparations and outcomes. The tests provide moms with information regarding the health of the fetus and pregnancy. It's well within your right to not have screening tests completed, but for most families it's an empowering choice for information and planning.
That being said, I had cystic fibrosis and SMA screening prior to conception (I'm a CF carrier) and I'll have the Harmony Prenatal Test next week for trisomy risk assessment.

wulfpackgirl · April 2015

tgthomas7 said:
Outside of the routine testing I m not doing any genetic testing. My doctor asked a very good question, she said "If you test and something comes back what would you do?" She explained if your answer is nothing then why worry yourself. She is right because we wouldnt do anything.

That's kind of how I feel too. And you could get a false reading and be worried for 7 months and everything end up being fine. I'm not sure what do about it. I'm over 35 so I know it will be discussed with me.

fitmomma1989 · April 2015

Ladies! Thank you for all the replies! I have a lot to think about :-)

osb1019 · April 2015

I just had my Harmony draw this morning and will have my NT scan in 2 weeks. Last pregnancy we skipped all the testing because we were naive and thought "we would never terminate if anything came back so it doesn't matter" Then at 20 weeks, we found that our baby had lethal birth defects (no skull, heart was in the stomach, body never closed). My poor baby was suffering and we were told he had 0 percent chance of a live birth. We did chose to terminate. Later we found it was Trisomy 18. I want to be more prepared this time. We would not terminate if there was any chance of life, but just want to be prepared.

jlstratta · April 2015

I am scheduled for the Panorama test in two weeks. I am 35 and figure I'll start there before I make any decisions on the more invasive tests. Hoping for good results all around for everyone.

mchmadre · April 2015

I did the chromosomal blood work today. My insurance covers it though. And I did it with my first and even though no abnormalities run on either sides of our families it was still reassuring to hear the results

OSUJaydee · April 2015

I do all the tests offered and will be adding the maternit21 now that I'm AMA. While there are a very limited set of circumstances under which I'd terminate, I think it's important to have as much information as possible so you can prepare for birth.

jerseymack23 · April 2015

We haven't made any decisions yet. I'm thinking we'll do the basic testing but nothing more.

Ceridwen77 · April 2015

4/20 - cell free DNA test & NT scan.

Blood drawn for cystic fibrosis on 3/24. Still waiting on results.

ks24119 · April 2015

going for materni21 next week. and nuchal in 3 weeks. i think it is best to be prepared for either direction you may choose.

LovinLife33 · April 2015

@osb1019 so sorry for what you went through, I can't imagine. Good luck to you!

vrossolille · April 2015

They told me my second son would have Down syndrome from those tests. He does not have it. What if I was one of them people who terminated? Scary thought! Won't be doing any testing for this pregnancy.

NDimanov · April 2015

vrossolille said:
They told me my second son would have Down syndrome from those tests. He does not have it. What if I was one of them people who terminated? Scary thought! Won't be doing any testing for this pregnancy.

Which test specifically?

CarrieOct15 · April 2015

I'm getting a nuchal translucency scan, and based on the results I'll make decisions on further genetic testing. I'm pretty low risk, but I would still rather be prepared, just in case.

doodlebug48 · April 2015

The blood tests and nuchal fold test are only screening tests and even if it comes up saying that there is a strong chance of a genetic issue, no one should ever terminate based on that result as it is again screening only. At that point you would do either cvs or an amnio to confirm the diagnosis as these tests are diagnostic. Even if you get a great result like 1/100,000 chance of downs for example, it still means that one person out of 100,000 that got the same "great result" you had, will have a child with downs or another trisomy. It happens. For me I need to know so I can be fully informed and prepared but that is my personality. As to what my husband and I would do if faced with our child having severe issues, well having never had that experience I do not know what we would decide.

babybxo · April 2015

I opted to and stressed I only wanted to do the tests that are non-invasive as far as the baby goes; they took my blood to check if I'm a cf carrier, as well as to test for down syndrome. I will also have an ultrasound done when I'm much further along (I think they said thirty four weeks) where they will take measurements of the baby just to make sure it's growing properly. I personally don't feel comfortable with any tests that touch or take from the baby and the results wouldn't change my mind in any way. definitely nice to have the option to check though!

ussromanoff · April 2015

My elder brother died the day after he was born due to a lot of genetic issues (none of the rest of my moms kids had any issues just him) but because of that and growing up hearing about everything he had I'm getting testing. I'm doing two blood tests and an ultrasound by genetic specialists in between. From there we will see if I want to do anything else. But I want to try to play it as safe as I can so I know what to expect and I don't get any surprises.

stahlxoxo · April 2015

I'm in the same boat! My hubby and I were blown away by all the options! It was crazy! I called our insurance this morning and the NTD test is 100% covered. We don't have any genetic worries actually but we get an ultrasound with it so we thought it wouldn't hurt anything! If insurance didn't cover it then we would probably discuss rather we would do it or not. I say any chance I get to see my baby and make sure it's healthy I'm all in!

almaraz83 · April 2015

Since I went through iui my RE recommended genetic testing prior to pregnancy, they tested about 8 different conditions, sickle cell, Intellectual diseases, fragile x, Amongst others to ensure I wasn't a carrier.. they said if I wasn't then the baby would be fine, if i am then they test my husband to ensure he's not a carrier as if we both were there was a 25% chance the baby will have a disease, thankfully I was clear, the test was called cousyl. My insurance covered and the dr. Said most women get these test once they are pregnant but he recommends before.

uwodahikamama15 · April 2015

I think mine was Counsyl. I got genetic testing for free when I was an egg donor. Thankfully I'm not a carrier for anything!

mamabecky1 · April 2015

We did Counsyl genetic testing and we are also doing the downs test. We don't have any concerns but would rather be informed.

CC.to.be · April 2015

I like the idea of these tests but I'm kind of on the fence. Also, they can't tell you about the most commonly occurring disorders such as Autism and Sensory disorders, as those are neurological, diagnosis is based on clinical observation. I also had a family friend get a false positive for Downs from her NT scan. She opted out of further testing and her son is neurotypical.

wedding crazed · April 2015

I opted out of all genetic testing with my first 3 and will with this one too. No risk factors at all. The normal testing they have done in the past can have false positives (SIL got one and then had the amnio, which is risky just to turn up negative). The new Panorama testing is supposed to be much more accurate as they are actually testing babies DNA, but it is super expensive and most insurances won't cover it unless you are high risk or over 35. And it is $3000. You also get to find out babies sex much with this testing. Good luck! It's a personal decision for sure.

jessicacrespo · April 2015

Our insurance will only cover genetic testing if there is a sound reason to test. So for us they will cover the test for any chromosomal disorders since my husband's brother has Downs syndrome. We opted out of any genetic testing because 1. We wouldn't terminate and 2. I'm a special ed teacher and have a lot of knowledge and resources regarding most developmental disorders.

nlmosley · April 2015

TacoSarah said:
I have a rare chromosomal abnormality and have a 50% chance of passing it on to my offspring. I met a genetic counsellor yesterday and whilst they can test the baby inutero they can't determine the severity of the if the test is positive. And the only way to test is through amniocentesis. So I've decided not to go ahead. I think the risk to the baby out weights the benefits of knowing as there's no cure and it will have been decided at conception so can't prevent it.

I'm looking on the positive side, there's a 50% chance that the baby won't have it.

My husband has a genetic disorder that is also 50 50 every time. We ddint find that out intil we were about 12 weeks along, so I had an amnio at 16 weeks with my last pregnancy. This time, I will do CVS at 11 weeks, but we will no longer be getting pregnant without assistance (invitro)

rmortinsen · April 2015

Does insurance cover the maternity21 test?

Ceridwen77 · April 2015

rmortinsen said:
Does insurance cover the maternity21 test?

It depends. Best to call your insurance and find out their policies.

phyllisnefler · May 2015

Bumping this thread up after finding it in a search -- I took the Counsyl test a few weeks ago (I'm adopted and have no idea about family history, so wanted to get as much info as I could) and it turned out that I'm a carrier for two recessive conditions.

Both of them (Barnet-Biedl and Smith-Lemli-Opitz) seem extremely dire, so that's no fun.

Am now impatiently awaiting the results for my husband. If he's not a carrier as well, then we're in the clear. Even if he is, there's still a 75% chance the baby would be unaffected, but we'd have to undergo further diagnostics on that front. So the odds are low, but the wait still sucks.

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