Genetic Testing? Still on the fence..

falcon10sgirl · August 2014

It has been a discussion between daddy and I about whether or not to do the genetic testing. We have the appointment scheduled because we know that there is a short window to get it done in, but still don't know if we should go through with it or not. One large part of me thinks that there is no rhyme or reason, that this baby was meant to be, and the outcome will be a blessing no matter what. But, a small and probably dumb side of me thinks that our child will resent us for bringing it into the world knowing that there would not be much quality of life, not to mention a financial burden. Thoughts? Am I crazy for even questioning myself?

Shebamommy · August 2014

What kind of testing are you contemplating? One of the non-invasive maternal blood tests? Or something invasive like amnio or CVS? This is a very personal decision, but I feel that information is power. I want to know (to the extent I can) what is going on. I opt for any non-invasive tests that are offered to me, but did not do amnio or CVS with my first two (I was 34 and 36 when I delivered DD and DS, respectively, and will have just turned 40 this time). I will do the same this go-round (yes to non-invasive testing, no to amnio or CVS unless we detect a problem and the doctor suggests it).

copperrose · August 2014

falcon10sgirl said:

It has been a discussion between daddy and I about whether or not to do the genetic testing. We have the appointment scheduled because we know that there is a short window to get it done in, but still don't know if we should go through with it or not. One large part of me thinks that there is no rhyme or reason, that this baby was meant to be, and the outcome will be a blessing no matter what. But, a small and probably dumb side of me thinks that our child will resent us for bringing it into the world knowing that there would not be much quality of life, not to mention a financial burden. Thoughts? Am I crazy for even questioning myself?

This makes it seem like you are questioning whether you would terminate the pregnancy which I don't think is anything you need to even think about right now. I would recommend following through with testing that is recommended and then, on the very small chance the tests come back with high probability, you can learn about your options and weigh the pros and cons. Quality of life and financial burden are personal factors but you need to know the facts before you stress yourself over any kind of decision.
Even if your tests come back as positive, there are so many things you need to be aware of pre-natally and for your labor and delivery. So even if it's not a question of termination, you are better off preparing yourself with the information to keep everyone safe.

falcon10sgirl · August 2014

Nothing invasive, just the blood tests that test for Down syndrome, etc. thank you for your response!!

falcon10sgirl · August 2014

Very good point! Thank you so much! The last thing I want is to terminate! Knowledge is power and I am leaning towards the tests! Thanks for the response!

ker180 · August 2014

Shebamommy said:
What kind of testing are you contemplating? One of the non-invasive maternal blood tests? Or something invasive like amnio or CVS? This is a very personal decision, but I feel that information is power. I want to know (to the extent I can) what is going on. I opt for any non-invasive tests that are offered to me, but did not do amnio or CVS with my first two (I was 34 and 36 when I delivered DD and DS, respectively, and will have just turned 40 this time). I will do the same this go-round (yes to non-invasive testing, no to amnio or CVS unless we detect a problem and the doctor suggests it).

Ditto to this...we are doing the blood work and extra ultrasound (nugal?) But I already declined doing the amnio and CVS regardless. We felt we will at least have a better idea and be prepared if so. A big part of our decision is that my sister had Down's Syndrome so I am at higher risk.

JEPES1348 · August 2014

We didn't even do the non-invasive test last time because I was low risk. A soft (and common) marker was found at the anatomy scan (echogenic intracardiac focus), so we had the blood testing after that. Results came back as lower than average risk. My OB told me that her daughter also had an EIF at the a/s and is healthy. Ultrasound machines are much more precise these days and pick up on things that were probably still there, but undetected before. Anyway, I most likely will also pass on the genetic testing again, but I haven't actually thought about it it much yet.

sdion27 · August 2014

I did the NT scan last time to check for downs, cyctic fyborsis, etc and I plan on doing it again. My insurance covers it and not only do I get to see baby again I get more information as well!

janda426 · August 2014

@sdion27‌ the NT scan doesn't check for any of those things, it simply assesses your risk. You cannot get a diagnosis from that scan

adirain · August 2014

I am a molecular biologist by trade and though I would like to know I feel I know too much about genetics sometimes. DH and I have never had genetic testing on any of our children. Statistically it is very rare that anything will come up with a child - it does happen. But we leave it to the 20 wk U/S as that tends to pick up more information than a genetic test sometimes as well. We opted to just never have it done.

shootznladrz · August 2014

I believe it's the amino that can detect defects like spinal bifida and I know we are going to want to do that with the history of Hs brother.

I'm also of the thought that knowledge is power, the risk to you and baby is so slim that it might be worth it.

Farrah626 · August 2014

It's totally normal to go back and forth with the decision for genetic testing. With DD we opted against testing, and now with this baby I'm going back and forth again. As PP mentioned, most are non invasive and simple tests that are just additional blood work or US, but it's a personal decision and I don't think there's a right or wrong answer either way.

snickersforeveryone · August 2014

I didn't get the NT scan with my first two, but did get the blood work. With the circumstances of this child's conception, we decided to do the NT scan. If the baby has problems, we want to provide the best supportive care that we can.

Best of luck to you in your decision.

jkeistler · August 2014

We are doing the early testing only. Bloodwork on the 22nd &'ultrasound on the 29th for the final results. I don't want anything further unless this first one comes back at a higher risk. We feel we will love our baby no matter what but if we can we would like to be prepared to give the baby the best life possible if there are disabilities and be able to educate our families.

Laurenj13 · August 2014

I see that many of you are saying you opted not to have the test done during some of your previous pregnancies, but my doctor's office is telling me that the genetic testing is required. I thought that sounded weird. I'm going to have to call them because they didn't even ask me if I wanted the appointment. They just scheduled it for me. I agree that knowledge is power, but I want it to be my choice. I hope that whatever decision you make...you are more than comfortable with it.

snickersforeveryone · August 2014

Laurenj13 said:
I see that many of you are saying you opted not to have the test done during some of your previous pregnancies, but my doctor's office is telling me that the genetic testing is required. I thought that sounded weird. I'm going to have to call them because they didn't even ask me if I wanted the appointment. They just scheduled it for me. I agree that knowledge is power, but I want it to be my choice. I hope that whatever decision you make...you are more than comfortable with it.

The blood work is often just part of the standard testing, but the NT scan isn't. Some insurances don't even cover it, so make sure you know what it is they are planning to do and that it's covered.

crunchymamaof2 · August 2014

We've always opted out of bloodwork for genetic testing as well as the NT scan. I'm low risk and I know myself well enough to know that I would panic if the odds came back pretty high. If something is found during an ultrasound (will have them due to a cyst plus the anatomy scan) then we will decide if an Amnio is worth the risk.

labgrand2012 · August 2014

I have posted this answer before in another thread similar, apologies for the repeat. But I also agree that knowledge is power. With our last pregnancy we started with the non-invasive NT scan because we were low risk and no family history on either side of abnormalities. We got a fold reading over 6, which is the worse it can be. We were shocked and devastated. We did the blood test and when those results came back positive for Trisomy 13 we did the CVS.

Whether or not you are going to terminate based on the diagnosis is up to you, and you and your SO to discuss. But I will say this, some of these things that they are testing for are severe abnormalities and extremely life changing. With T13 99% of the babies with will die before they are born with the rest mostly passing before they are 1. Other ones the babies do survive but just need special care.

Personally I again am doing the blood test and NT scan. From there we will discuss further testing if needed. I want to be prepared again, I want to have time to adjust, I want to find support groups, and I want to research all the medical options I will need to have. This could be a big financial jump from just raising a baby. And finding day care might be more difficult which means one of us would need to stay home.

And finally I want time to mourn the loss of the child I had pictured us having. I think most people imagine a life with a child without special needs and build it up in your head. It is good to mourn this and then come around to what life will be like. If I have a child with special needs I want to be bounding with it right away. I don't want it's first few hours/days/weeks of life me coming to terms with it all.

Again, this all my personal option based on my person experience. I hope this helps a little bit, and best of luck.

randomnames · August 2014

shootznladrz said:
I believe it's the amino that can detect defects like spinal bifida and I know we are going to want to do that with the history of Hs brother.

I'm also of the thought that knowledge is power, the risk to you and baby is so slim that it might be worth it.

There is also a blood test (AFP) that screens for neural tube defects like spina bifida, among other things.

AngeliqueRose · August 2014

Im going on the 27th. I am getting blood work, non evasive. I just want to be prepared, not that it will make A difference. I will love my child regardless! On the plus side, Ill be finding out the sex...gOod luck. Do what is best for you!

ngolimento · August 2014

I would like to get testing done, but my insurance doesn't cover much since I'm low risk.

I also am in a deeply red state, and even if we wanted to terminate a seriously ill pregnancy, we'd be forced to carry to term. Horray for uneducated assholes sticking thier nose in my vag.

crunchymamaof2 · August 2014

Peledreamsofrain said:

I would like to get testing done, but my insurance doesn't cover much since I'm low risk. I also am in a deeply red state, and even if we wanted to terminate a seriously ill pregnancy, we'd be forced to carry to term. Horray for uneducated assholes sticking thier nose in my vag.

God forbid, could you go to a different state?

ngolimento · August 2014

crunchymamaof2 said:

Peledreamsofrain said:

I would like to get testing done, but my insurance doesn't cover much since I'm low risk.

I also am in a deeply red state, and even if we wanted to terminate a seriously ill pregnancy, we'd be forced to carry to term. Horray for uneducated assholes sticking thier nose in my vag.

God forbid, could you go to a different state?

As much of a nightmare as that would be, we'd probably do it. Having to spend so much money to do the right thing galls me.

Unknown · August 2014

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cmcintos · August 2014

I'm doing it. I'd rather know and be able to prepare..... but that's just me.

goofygoff · August 2014

Peledreamsofrain said:

I would like to get testing done, but my insurance doesn't cover much since I'm low risk. I also am in a deeply red state, and even if we wanted to terminate a seriously ill pregnancy, we'd be forced to carry to term. Horray for uneducated assholes sticking thier nose in my vag.

I am fortunate to live in a progressive state, but this still seriously makes me rage. Every. Single. Time.

I have an appointment next Wed for the NT scan and blood test. We will wait to see what the results are before committing to more invasive testing. But if we get bad news, we will opt for it.

daizedoo · August 2014

I have a Harmony test scheduled a few weeks from now. I'm AMA though, and I just need to know the results. It would be worse for me to not know.

teraelise · August 2014

With my first child, my son, we declined genetic testing (the labs and NT scan) and at the 20wk anatomy scan they found a small calcium spot on his heart which is very common but has been known to be a marker for downs. They made us go to the hospital for the lab work I chose not to do in the beginning, and doing it in an urgent situation because you actually have a reason is so much worse than doing it when you have nothing to suspect! He is fine and everything came back negative. But this time, we are opting for the testing bc we just don't want to be rushed off to do it later on!

tkbs77 · August 2014

I am all for conclusive, statistically significant, guided prenatal testing. I live in Boston and our hospitals are some of the best in the world. My OB (Asst. Chief of Obstetrics at Mass General), along with a flood of others, are moving away from the default 12 week triple screen because of a significant amount of RECENT evidence that suggests that the ratio based conclusions are flawed and don't offer patients much in the way of proactive insight or guidance.

I am all for more information; however in this case, if you do the research, the statistically significant data indicates that the collective analysis they engage in to derive the ratio conclusions for the triple screen is not accurate enough to serve as a guide for further testing and termination based decisions. It is such a personal decision, so definitely to each their own but I thought I would share what I've learned recently. Conclusive testing like Harmony, I am all for (if you qualify or want to pay oop).

chaysefaith · August 2014

This was already mentioned above but I just want to reiterate that some of these tests check for Trisomy 13 and Trisomy 18. These diagnosis are always fatal, whether the baby passes in utero or after birth, it is a guarantee that the baby will die. My last pregnancy ended so drastically and tragic that I want to be 100% prepared this time. I want to know if my baby is going to die and I want to choose to end it in a way that is most cathartic for everyone involved instead of spending day after day wondering if this is the day it will end.

lisap0924 · August 2014

I am doing the blood test for downs and cystic fibrosis.

My BIL has downs so we want to test and be prepared.

maisonduchoco2 · August 2014

For DS and the pg I miscarried, we did not do the early blood draw and testing since the OB felt I was low risk (younger than 35). We did the NT scan and the quad screening with DS and that was it. When I miscarried, we had genetic testing done and found out that the baby had Turner's, which is a chromosomal abnormality that can be discovered with the Harmony types of tests. So, the OB recommended I should get tested this time around and we will.

I just want to be prepared, no matter what the news. Until I miscarried at 12wks last time, everything else was normal and perfect according to my OB. Had I done the genetic testing with my last pregnancy, I would have been more prepared mentally. I woke up the morning of my NT scan and ended up in the ER instead of my OB's office, so my mind had a hard time dealing with that for a while.

wishiwaspreggo · August 2014

I just had my blood drawn yesterday and one of my tests was the MaterniT21... I have no idea what my risk is but I'll be 32 when the baby's born and my mom's cousin had a child with Downs Syndrome (my second cousin, I think) so probably slightly more elevated than one who is younger with no family history. In any case, I do want to know, especially if the baby will not survive. It's horrible to think about it, but it could be a reality I'd have to face.

LadyLewy29 · August 2014

I was on the fence with my first pregnancy and ended up getting the NT at the last minute. During the scan, a severe heart condition was discovered which led to genetic counseling and an amnio which gave us the Tetrasomy 22 diagnosis. After more counseling based on what we knew and the variables of the disease, we knew the diagnosis was fatal. We chose to terminate at 20 weeks - the most horrible decision I was ever forced to make. The autopsy proved that the variables were present and I likely would have lost my little boy before birth or at birth (we was also missing a valve between lung and heart - fatal).
I did the NT again with my now 2 year old perfectly healthy boy and will with this baby and any in the future.
Knowledge is power and the decision to test and what you do after learning the results of those tests is completely personal. Good luck!

mrshuegel · August 2014

We're doing blood tests but nothing more invasive

shootznladrz · August 2014

Now I'm scared and expecting the worst....

labgrand2012 · August 2014

shootznladrz said:

Now I'm scared and expecting the worst....

@shootznladrz No need to be scared. Whether you chose to do any kind of testing or not your odds are still the same. Plus, it has already been determined if your baby has any abnormalities. While it is scary to think about it, most likely you have nothing to worry about

Edit: spelling is hard at the end of the work day

BP1979 · August 2014

I'm doing it, but more because I want to know the gender!!! Haha

Unknown · August 2014

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falcon10sgirl · August 2014

Thank you ALL for the feedback! You have definitely helped leaps and bounds!

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