(Closed) Did you choose genetic testing or opt out of it?

posted 5 years ago in Pregnancy
Post # 3
Member
1660 posts
Bumble bee
  • Wedding: January 2012

I’m interested to hear what others say who have been through this…

(no children, and waiting to see if I’m pregnant) I don’t know if I would do genetic testing unless I was worried because of family history.  That said, if during an ultrasound or something they showed concern I would get tests done for whatever they were worried about (this happened to my sister, story below)… But I’m anxious by nature and I think having TOO much information would just make me worry more.

When my sister was pregnant with her 3rd they were noticing that his head was measuring way bigger than his body (and something about brain development, I don’t remember this was 4 years ago), he was showing markers for water on the brain and/or downs syndrome.  I don’t believe she had ever had genetic testing, but with this news she got whatever tests needed to be done to keep an eye on what was happening.  She went through a lot of tests, a lot of worrying and after a few weeks (with loads of ultrasounds) he was back on track and everything was within normal range.  She gave birth to a generally healthy baby boy.  He has had to have eye surgery for a lazy eye and he needed mild physical therapy when he was a baby because his head tilted to one side and he favored one side more than the other, but after just a little physical therapy he is perfectly healthy and 100% ok.

The point of that story is to show that things can get complicated, but I think if she had gotten genetic testing done and anything showed up the slightest bit off, she would have been worrying the entire pregnancy… Stress and anxiety is the last thing a pregnant woman needs.  I say deal with whatever happens as it happens. I could be wrong, but I would think if there were a terrible problem, it would usually be detected before birth without genetic testing.

Post # 4
Member
257 posts
Helper bee
  • Wedding: June 2013

I did the genetic testing with my daughter  We talked about the possible results before and the only way we would have terminated is if she tested positive for trisomy 18, which was very unlikely given my age. My Fi  had two sisters, one with a severe intelllectual delay that will make her dependant her whole life, and one who had down syndrom and autism. So raising a child with a disability was not a concern for him and my mom works with special needs children

 

. If  our daughter had testes positive for down syndrom or spina bifida we  would have done nothing,  The only reason we would have terminated a trisomy 18 baby is due to the low survival rate. However i honestly dont know if I would have been able to terminate, thankfully i didnt have to make that choice. 

 

The only reason I wanted to know was to be able to prepare my self and study up on the condition is she had one. 

 

Post # 6
Member
1660 posts
Bumble bee
  • Wedding: January 2012

@spiced latte:  I’m not sure, but I wouldn’t think so if it’s genetic… But they can monitor it and just because they are showing “genetic markers” doesn’t mean they actually have the problem.

Post # 7
Member
38 posts
Newbee
  • Wedding: June 2012

Congrats on your pregnancy!  I think your midwife was actually being a little emotionally manipulative with that statement.  Screening tests are definitely not 100% accurate; they’re only measuring the likelihood that your baby has some kind of issue.  So, there are lots and lots of people who get a worrying result on the first trimester screen for example and go on to have very healthy babies.  On the other hand, if you get a worrying result, they’ll then send you for an amnio, and the amnio is extremely accurate.  So, if G-d forbid, you ever had to make that choice, you wouldn’t have to worry that the information you’d gotten was potentially flawed.

 

 

 

As far as the actual genetic testing goes, I guess I’m a little biased because I’m also pregnant (due in September) and had it done.  Or, rather, I had the first and second trimester screening, not the amnio.  My baby’s risks were calculated as very low and as a 28 year old woman, I loved being told that his risks of Downs had dropped to those for the baby of a 20 year old woman, lol.  Age vanity and all.  I guess for my husband and I getting the testing done gave us a lot of peace of mind.  Insurance covered most of it too.  

 

 

 

Good luck with whatever you decide!

 

Post # 9
Member
1629 posts
Bumble bee
  • Wedding: February 2012

The biggest harm from doing the first round of screening tests is that you may possibly get a false positive (or a real one, but that’s not harm exactly, it’s the point of the tests) and they may suggest further testing.

Honestly, your midwife sounds like kind of a dink. I would get a different one. Why anyone would want someone who “explains what your options are” by putting a heavily biased argument for non-interventionist methods forth throughout their whole pregnancy is beyond me.

I am doing the testing. I want the ultrasound mostly, I haven’t had one yet. The testing is very important to Darling Husband as he grew up very close to a familly with a child who had DS. He says it’s better to be prepared than to not know. Personally, I would never abort even if the tests all came back positive. I’ve told Darling Husband he can leave me (us) if he feels that he has to. My point here is that in a marriage it is a partnership and the testing is not just about what you want.

My close friend who recently had a very healthy baby declined all testing. Her husband asked her why when it came up in conversation (in their hospital room after they had given birth, we were visiting). She said it was because it would not have mattered either way and that was all she said on the matter.

Hope that helps. 

Post # 10
Member
2287 posts
Buzzing bee
  • Wedding: Central Park

I would do it. My brother is autistic and I know how difficult his life is, and how hard my parents had it. I’ve already decided that I don’t want to have a special needs child. I’m going to be taking care of my autistic brother once my parent’s can’t any longer. One will be more than enough.

Post # 11
Member
1401 posts
Bumble bee
  • Wedding: November 2011

We wouldn’t have terminated a baby on the possibility of genetic issues, but we opted for the testing just to be aware of what might be coming. They can do a lot these days to tailor your antenatal care if they know the baby has problems. One friend of mine was actually able to get in-utero surgery for her baby because they detected the problem early enough.

 

Happily, ours came back looking good, which did help me to relax and worry less.

Post # 12
Member
1660 posts
Bumble bee
  • Wedding: January 2012

@michiru4ever:  I’m not trying to be rude, but as far as I know there is no way to detect autism in pregnancy… And from what I’ve read autism usually isn’t diagnosed until 1 year of age (if it is onset at birth), and there are no medical or genetic tests for autism.  I’m very sorry about your brother though!

Post # 13
Member
170 posts
Blushing bee
  • Wedding: October 2009

Like 

@UK Bride:, we wouldn’t have terminated but I wanted to do the screening so that we would have all the information up front.  Sometimes intervention is possible if you know and I wouldn’t want to miss that chance.  Also, for me, time to mentally and physically prepare would have been important.  

Post # 14
Member
83 posts
Worker bee

During my first appointment, I was kind of just given papers to sign for genetic testing. I didn’t think anything of it since they said it would only cost me $25 at the most. I’m 27, of Asian descent, and nothing they were going to be testing for put me at high risk so I’m like well, what the heck? might as well check for early peace of mind..

 

Well, I kinda wish I hadn’t.. I found out I’m a carrier for Cystic Fibrosis. 1 out of 97 for Asians and I just happen to be the lucky one *sigh*

 

This is my second pregnancy and my first child was born completely healthy. We have no history of it.. but yeah, so for my 2nd appointment, Fiance had to got tested too. We’re still waiting for his results. If he’s also a carrier, there’s a 25% chance that our baby will have it.. and to check, I’m gonna have to have an amnio or CVS (something I never planned on getting done)

 

Ignorance is bliss.. I kind of regret it but since I opened Pandora’s box.. I have to go all the way to make sure..

 

 

 

Post # 15
Member
1622 posts
Bumble bee
  • Wedding: September 2012

@spiced latte:  I’m a canadian midwife, so I feel like I need to clarify some things.  

The initial testing is a screening test, ie. it calculates how much risk this pregnancy is at for the specific genetic conditions (Down syndrome trisomy 21, also trisomy 18 and trisomy 13, as well as neural tube defects).  IF (and usually ONLY if) the result comes back “screen positive” (ie. high risk) then you are given the option to be referred for diagnostic testing that will confirm normal genes or not. This is amniocentesis.  Amniocentesis carries a risk of about 1/200 for causing miscarriage….so while the midwife may not have explained that well, what she may have meant (and I am giving the benefit of the doubt here) is that *most* “screen positive” results are actually false (ie baby is genetically normal for those conditions) but going ahead with the amniocentesis to confirm what’s going on may in fact cause you to lose a health pregnancy.  Thus…..only do the test if, given the choice to procede with amnio, you are willing to take that 1/200 risk to miscarry.  Does that make sense?

It’s not how I counsel my clients, but what she’s saying is technically a valid arguement.  It’s not a medically indicated test, it’s a personal and ethical choice.  I always say that the benefits of testing include option to terminate or option to research/prepare ahead.  The drawback is that a “screen negative” result is no guarantee of an unaffected baby, and a “screen positive” result can be incredibly stressful in spite of the knowledge that most of them are false positives.

Also, the second trimester anantomy ultrasound is a screening tool as well.  Most babies with these genetic disorders will have signs seen on ultrasound, especially neural tube defects.  

Lastly, there can be treatment options for neural tube defects, depending on the severity.  There are no treatments, however for Down syndrome or trisomies 13 or 18.  There are treatments for the physical manifestations of these conditions, but not to “cure” it.  

Post # 16
Member
2073 posts
Buzzing bee
  • Wedding: July 2012

First off, congratulations on your pregnancy.

 

Now, I’m not pregnant yet but I do have some experience with genetic testing. My husband and I are both carriers for a genetic blood disorder. We chose to have additional testing as part of the confirmation of our carrier status. With our particular disorder, it is not terminal nor does it affect a child’s intellectual function, but it does severely impact quality of life.  If we had a child with the disorder, he/she would need biweekly blood transfusions along with kelation therapy so as not to build toxicity to the iron for the blood.  The child would have to be closely monitored by multiple doctors and any kind of illness could potentially be fatal.  

 

 

 

As someone with chronic health issues that started in my 20s, I know how hard it is to spend some much time in the doctor’s office.  I couldn’t in good conscience do that to my child. Because of this, my husband and I are choosing to do IVF with PGD so no affected embryos will be implanted. If we chose to not do IVF, the soonest we would be able to find out if the fetus was affected would be 13 weeks via CVS or 20 weeks via amino.  I couldn’t bring myself to terminate a pregnancy at 13 weeks let alone 20.  I can’t see myself being pregnant and not being able to let myself not get attached to the pregnancy for fear of having to terminate. It would be emotionally devastating. 

 

 

 

Obviously, ethics sort of this is deeply personaI and no one can really make that choice other than you and your husband.  I just wanted to share my experience thus far. 

 

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