Regretting genetic testing.

mama2wy · August 2012

I'm 9 weeks today and we got the results back from our genetic testing that my dr INSISTED on. I never would have thought I'd test positive for anything.. But I did. As a carrier for fragile x. the most common form of mental retardation I'm really bummed and now we need to go meet with a high risk dr and genetic counselor. I feel like if my risk for the baby having it was greater than 50 my boyfriend would want to terminate. I'm not sure but I think so. I honestly get a really good feeling about this pregnancy and don't think anythings wrong.. So I almost wish I didn't know that I am a carrier. Ugh I'm just bummed. Did any of you get "bad" results from the test? I'm also switching drs btw because she's waaay too pushy and opinionated for me.

prplscrubs · August 2012

I haven't had any testing or anything so I can't talk much about that but I did want to say that I support you looking into a new dr. Your dr should be someone you work with and that supports you through YOUR pregnancy. If they are making you do tests that you don't want or not listening to you it will only stress you and your baby out. I am so sorry that you are going through any of this and really hope you are able to fine a dr that you like and that will respect your feelings and wants about your pregnancy.

lynn3yb00 · August 2012

My cousin has a little boy who has downs syndrome. She was only 17 when she had him and her boyfriend at the time tried to pressure her into giving him up after he was born (they had no idea about his downs until then). She really debated it for a while and decided that she loved her child, reguardless of anything, and that so long as she could provide for him and love him, she would keep him. She was a single mom, in college, working full time, and had a lot of stresses trying to do everything on her own for a while, but she swears it has been worth it and I don't doubt that she means it. This guy is no longer in the picture and she found an amazing guy who loves her and her son and they now have 2 little girls as well. Her little boy is the happiest and sweetest 8 yr old I have ever met. Don't let your boyfriend pressure you into doing something you don't want to. It's your choice, not just his. He may also surprise you and be ok with any possible mental retaradtions that LO could face.

As far as switching drs, I would. There is no reason (that I can think of) for an ob to force you to take a test like that. Also, you should be totally comfortable with your dr, which it doesn't sound like you are.

GL!

watermellens · August 2012

Sounds like you have some serious conversations with your BF in your future. Good luck and I hope things work out!

aimeecasey · August 2012

Just keep in mind that there are varying degrees of mental retardation. That doesn't automatically mean this baby could potentially be the worst case senerio you or your boyfriend are picturing.

shandorfml2 · August 2012

my doc described it in a good way for me...

If you knew what your chances were for a car crash (and they were high) you would be freaked out every time you got into a car. If the results of the tests would not change what your decision would be, why have all that anxiety when things might turn out fine?

This made sense to me. Good luck on your journey..

benmel31 · August 2012

I am sorry that you have a doctor who is forcing you to do things you don't want. You may want to look into a new doctor that you are more comfortable with. There is no reason for a doctor to force you into optional testing. That is why there are consent forms to sign.

As for you and your BF, it sounds like you have some serious conversations coming up. We went back and forth on the genetic testing too. We decided to get it done, not because we have any intention of terminating, but because we would rather be aware of what is possibly to come.

Good luck to you!

teachingirl28 · August 2012

Remember that just because you're a carrier doesn't mean your baby will have Fragile X. They should test your boyfriend to see if he's one, and it seems unlikely that you both would be. You both have to be carriers for your baby to inherit it.

Even if he is, think about it this way - lots of people are carriers of the gene for blue eyes even though brown is dominant, meaning the parents both have brown eyes themselves. Most of the time, those brown-eyed parents will go on to have brown-eyed babies - it's never guaranteed that they'll have a baby with blue eyes because their chances that both recessive genes will come through are much lower.

There's no reason to stress at all until he gets tested. I think it's very unlikely that you have anything to truly worry about. Even if it turns out that he is, things will all work out. Good luck to you!

Beth64 · August 2012

I just wanted to say good luck! *HUGS*

BarefootContess · August 2012

First, no one can make you terminate. Second, you do not know if your BF is a carrier. Even if he is that does not mean your baby will have fragile X syndrome. Try not to worry until you have more information. Did the OB recommend your boyfriend be tested? that might be the next best step since it poses sno threat to the baby. GL.

CloudBee · August 2012

I have only had my bloodwork done, and haven't heard back on that yet. My NT scan won't be until early September.

I fear if we get bad statistics, my husband may approach me about possible termination. We decided we would discuss once we're actually in the situation, though. It's hard to say what you would do in advance.

But, here is some first hand experience I do have. My mom had some complications when she was pregnant with me. They did an amnio, and the tests came back really high saying I would most likely have Downs, or Spina Bifida. I think back then you got a general sense of a few conditions it could be, and it was nearly impossible to narrow down. Even ultrasounds weren't great back then. (I'm nearly 30.)

She chose to carry me to term, and here I am, normal as can be. (Aside from some congenital heart defects - 4 surgeries later I'm pretty normal, though!)

krisztina33 · August 2012

I'm sorry that you feel like you were forced into testing. I highly support your looking for a new doctor.

I also echo what PP have said--even if your bf is a carrier, the chance of your baby actually having it is only 25%. Meaning there is a 75% chance that it will be perfectly healthy.

(((hugs)))

traneshaph · August 2012

@ SHANDORFML2..........I LOVE your comment. That's exactly what I needed to hear. I'm 10 weeks and this is our 1st baby. My doc asked me at my 8 week appt if I wanted to do genetic testing at my 12 week appt. I said, "Sure". I didn't know what it consisted of at that time. After reading about it, I've decided that I don't want to do it. I'm going to keep my child either way and we'll both love it no matter what. So, like you said, "what's the sense in having all the anxiety?" Yay! I am no longer going to have the testing done. I 'll let my doc know at my next appt.

aeb20 · August 2012

I'm sorry that you are experiencing so much worry. Genetic testing seems very stressful. I have gone back and forth with having it done and honestly I am still up in the air. I have read a lot about false positives and like many others said just because you are a carrier for something doesn't mean it will be passed along. I hope that you are able to find a Dr that will be more supportive of you. I think having a good relationship with your Dr is so important since there are so many confusing and stressful things about pregnancy! Good luck with everything and sending thoughts and prayers.

magel050485 · August 2012

I didn't get genetic testing done because it isn't covered by my insurance.

However, I wanted to point out that termination is something you and your SO both need to agree on. And there is nothing wrong with having a mentally challenged child. Your apporach to parenting may have to change and it won't be easy, but heck, parenting any child isn't easy. Many mentally challenged people live happy, meaningful lives and are functioning members of society.

Finding out early that you are at higher risk gives you the opportunity to connect with resources in your community from support groups to occupational therapists or therapeutic schools if they are available.

sgb721 · August 2012

Just because your a carrier does not mean your children will have it. Go back to not knowing.

mrandmrsbrist · August 2012

You have gotten some solid advice here, OP. I just wanted to offer hugs and let you know that this is just as much your decision as it is your BF's. Best of luck to you guys!

Beaglechon2012 · August 2012

jessuhmarie:
traneshaph:
@ SHANDORFML2..........I LOVE your comment. That's exactly what I needed to hear. I'm 10 weeks and this is our 1st baby. My doc asked me at my 8 week appt if I wanted to do genetic testing at my 12 week appt. I said, "Sure". I didn't know what it consisted of at that time. After reading about it, I've decided that I don't want to do it. I'm going to keep my child either way and we'll both love it no matter what. So, like you said, "what's the sense in having all the anxiety?" Yay! I am no longer going to have the testing done. I 'll let my doc know at my next appt.
The sense is being prepared to raise a child with disabilities. The sense is to have the appropriate doctors on hand and ready so your child has the best care.

I agree with Jessuh 100%.

This is not directed at you traneshaph, I want to be clear up front about that. I don't get this vehement response to not having genetic testing, NT scans, etc. when it contains an unspoken (yet clearly implied via tone) assumption that doing testing means you would abort (I am not even going to use the word terminate, it's abortion) if the results were not favorable. Also to be clear I am not talking about situations where the tests or exams aren't covered by insurance or if you just don't care to know either way. I think that is different - I am talking about people who imply that if I am testing it is because I would abort my child if they weren't "perfect" in my eyes.

My child will be perfect in spite of downs or another disability (physical or mental). Maybe it is the hormones talking, but it really hurts me deeply that I constantly feel this side-eyeing vibe that I am somehow a bad person by choosing to be empowered with information. My mother's family is full of various disabilities and illnesses and I want every shred of information I can have to be prepared for likely outcomes, it's my job to be prepared and if I can afford it (even if insurance doesn't cover it - which they won't cover 100% of it) I am paying for it. I do the same for myself, why would I not do this for my child? I really don't see what is so wrong with that and worthy of side-eyeing.

ETA: OP - I agree with PPs that I think switching doctors may be a good idea. You should not have to deal with a doctor that forces you into testing that you don't want and could potentially be very costly! I am sorry the results produced anxiety, hopefully you can get more information soon.

mama2wy · August 2012

Thank you all for your kind words and advice. I loved what every one of you had to say.. and I definitely agree. I'm already searching OBs so I can switch. I honestly still think this pregnancy is completely healthy (and don't get me wrong.. I dont care either way if it is. I'm going to school to become an occupational therapist for kids with special needs. It's just scary since it'll be even more to take on besides this suprise baby since my SO and I are both still in college.) But we have an appt with a genetic counselor to find out how likely it is that LO will actually have fragile x on 8/21. I'll let you ladies know how it goes.. thanks again for all of your advice!

shandorfml2 · August 2012

traneshaph:
@ SHANDORFML2..........I LOVE your comment. That's exactly what I needed to hear. I'm 10 weeks and this is our 1st baby. My doc asked me at my 8 week appt if I wanted to do genetic testing at my 12 week appt. I said, "Sure". I didn't know what it consisted of at that time. After reading about it, I've decided that I don't want to do it. I'm going to keep my child either way and we'll both love it no matter what. So, like you said, "what's the sense in having all the anxiety?" Yay! I am no longer going to have the testing done. I 'll let my doc know at my next appt.

I'm glad it was helpful It made perfect sense to me how she explained it.

shandorfml2 · August 2012

I definitely didn't mean to imply a baby with disabilities was like a car crash, or that because you chose to have testing makes you crazy. I was actually all for testing until I thought about the anxiety if I was told there was a higher chance (if testing was 100% accurate, it would be different). I was referring to the anxiety from waiting to see if the baby will actually have a disability or not. Probably was the wrong place to post, but I didn't think much before I replied.

shandorfml2 · August 2012

jessuhmarie:
traneshaph:
@ SHANDORFML2..........I LOVE your comment. That's exactly what I needed to hear. I'm 10 weeks and this is our 1st baby. My doc asked me at my 8 week appt if I wanted to do genetic testing at my 12 week appt. I said, "Sure". I didn't know what it consisted of at that time. After reading about it, I've decided that I don't want to do it. I'm going to keep my child either way and we'll both love it no matter what. So, like you said, "what's the sense in having all the anxiety?" Yay! I am no longer going to have the testing done. I 'll let my doc know at my next appt.
The sense is being prepared to raise a child with disabilities. The sense is to have the appropriate doctors on hand and ready so your child has the best care.

I absolutely agree. I just wasn't sure how much prepping I could do before he/she was born besides read books. But you are right, which is the reason I wanted it in the first place.

CCBelATC · August 2012

teachingirl28:

Remember that just because you're a carrier doesn't mean your baby will have Fragile X. They should test your boyfriend to see if he's one, and it seems unlikely that you both would be. You both have to be carriers for your baby to inherit it.

Even if he is, think about it this way - lots of people are carriers of the gene for blue eyes even though brown is dominant, meaning the parents both have brown eyes themselves. Most of the time, those brown-eyed parents will go on to have brown-eyed babies - it's never guaranteed that they'll have a baby with blue eyes because their chances that both recessive genes will come through are much lower.

There's no reason to stress at all until he gets tested. I think it's very unlikely that you have anything to truly worry about. Even if it turns out that he is, things will all work out. Good luck to you!

I 100% agree with this! My sister has 3 daughters. One was really sick and they were concerned about cycstic fibrosis. My sister was tested (which I'm now hearing it should've happened in the 16th week of every pregnancy so I don't know why she was never made aware), and came back positive as a carrier for CF. They then tested her H (who was negative) and their LO's test came back negaive as well. Our parents and grandparents never talked about genetic testing. So it seems extra unknown/scary that we're going to have to decide if we want to opt into it.

It's possible that your LO will not be afflicted. You just can't know until after it's born. I would suggest your BF get tested, find a new OB that you're comfortable with, and get as much information as you can from the specialists. Good luck!!

Want a personalized experience?

Regretting genetic testing.

Re: Regretting genetic testing.

Choose Another Board

Search Boards