Genitic screening. Good, Bad or Ugly?

Kristy - posted on 12/20/2011 ( 29 moms have responded )

235

36

37

Hello,

My partner and I have recently found out that we are expecting a happy surprise!!! After a life-time of health problems and other issues; we have been blessed with a miracle bean/pregnancy!!!!

We had pretty much given up on the possibility of a biological child together. So now we will have a 16 year old (my step-son) and a new baby (my 1st biological). Since sharing this news with the brother –to-be, things have been very tense and he seems extra moody.

In addition this is of course a “high-risk” pregnancy, which brings with it a whole new kind of stress and emotional roll a coaster.

I was on a high number of medications and treatment proticals when I found out that I was pregnant, stopped all at 4 weeks.





Thanks for all feedback,



Kristy

MOST HELPFUL POSTS

Ez - posted on 12/20/2011

6,569

25

237

IMO, if you don't want to accept your baby as God gives it to you, then you shouldn't get pregnant to begin with.

So, UGLY!!!


What an incredibly ignorant and heartless thing to say. I take it you've dealt with having a baby with a disease which is incompatible with life then?

Ez - posted on 12/21/2011

6,569

25

237

Shawn, there is a HUGE difference between your first post and what everyone else has written. Nobody else told the OP what to do, just gave their experience and a bit of information. Your post tried to guilt a confused first-time mother into refusing testing based on a deity she may or may not believe in. Completely inappropriate.

Your post was in no way supportive or helpful. It was also incredibly insensitive to other mothers (of which there are many - this site has 10 million members) who have made the difficult choice to terminate a much-wanted pregnancy due to congenital abnormality. And there ARE mothers on here who have had babies born (and lost) with these conditions. So think before you post next time. And keep your god out of it.

Krista - posted on 12/21/2011

12,562

16

845

IMO, if you don't want to accept your baby as God gives it to you, then you shouldn't get pregnant to begin with.

This is a breathtakingly heartless statement.

Have you ever heard of the term "fetal abnormalities that are incompatible with life"?

Some babies develop with conditions that make life "on the outside" impossible. Either they'd be born dead, or would live an extremely short life, filled only with pain, before dying. Many mothers, in that horrible situation, make the choice to terminate the pregnancy so as to spare their baby that suffering. I cannot imagine how heartbreaking it must be to make that decision.

And for you to judge them? For you to imply that they simply just don't want to accept what they were given?

That was a very, very judgmental and mean thing to say, and bears NO resemblance to what the other women on here have been saying.

[deleted account]

Shawnn you need to go back and reread what YOU wrote. YOU are the one being rude, judgemental, and completely unsupportive of the original poster's concern. And when you throw "God" into the mix, well guess what sweetie-pie, your version of god might be different from other people's versions of a spiritual leader. So you need to step back and re-evaluate your words. The original poster doesn't need to accept anything she isn't comfortable with. And when YOU make the judgemental statement "So UGLY!", well please determine what was so pretty about your comments?

Mary - posted on 12/21/2011

3,348

31

123

Kristy, by no means is your decision unusual. Many of us who are classified as "high risk" opt to forego that first trimester screening.

I was 38 when I had my long-awaited daughter. I too, knew that I would not abort based on these results. I also knew that I would not be willing to do any invasive follow-up diagnostics if those results were in any way questionable. I was perfectly content to wait until the 20 week scan to find out if there were any significant anomalies or problems.

This was not an ill-informed decision on my part. I am an L&D nurse. This choice was also fully supported by my OB. If you know that the results would not make you consider a termination, and you are unwilling to take (small) risk of miscarriage associated with a CVS that would be recommended if the quad screen is indicative of an issue, than there really is no point in having it done.

29 Comments

View replies by

Kristy - posted on 12/21/2011

235

36

37

I am the type that would obssess and agonize over the prossiblites untill I have the baby in my hands. I am already very anxious and I think testing might just give a name n face to my nightmare.

Kristy - posted on 12/21/2011

235

36

37

Yes those were the screenings they recomened. probability of downs, tricillinomey and spine abifita.

Kristy - posted on 12/21/2011

235

36

37

Thanks Ladies,
Had the appointment today, just did questions and ultrasound. Every thing is looking good.
I have known parents who were told that their son was going to be very developmentaly delayed and my not be able to substain life outside of the womb. On the stern advice of the care givers they had set an appointment to terminate and just could not go through with it.
Jesse was born without complecations and graduated pre-school with my nephew last year.
Also, if these tests were part of the treatment for my mom, the doctors would have suggested that I be terminated. I was born with a chromisonial defect in the G.I. track.

Sherri - posted on 12/21/2011

9,593

15

391

I agree with everything you say Rachael except the risk of miscarriage. All it is, is a blood test, questions and an ultra sound. So there is no risk of miscarriage unless they find something wrong where they do more invasive testing at that time.

[deleted account]

i think that, if you have a high risk pregnancy, it's better to be fully aware as early as possible in case there is some sort of genetic disorder. That way you can mentally prepare yourself and get informed about what it is going to be like and make any decisions necessary to be fully comfortable with whatever the outcome, whether or not you decide to proceed with the pregnancy.

For myself, I didn't get the testing because it carries a slight risk of miscarriage, both my husband and I were young (under 25), and neither had a history of genetic disorders in the family. The risk just didn't make sense for us.

Tara - posted on 12/21/2011

1,289

24

206

I was classed as high-risk with both my pregnancies. I didn't bother with the genetic screening because I didn't want the added stress. Even if my children had a genetic disorder I still wanted them and would have loved them anyway.



I would talk to your doctor about any medications/treatments you could do that are safe enough for baby and still allow you to keep whatever condition you were taking the medication for in check.



As for the 16-year-old, that is a HUGE gap between them and your best bet is to get him as involved in things as you can while letting him know that you still love him.



I think a lot of the genetic screening tests (for Down's, etc) is more stressful than anything and isn't particularly necessary - my OB told me that unless I had high risk factors for certain genetic conditions that ran in the family it really wasn't worth having the testing done because it would just stress me out.



I did have the standard testing and ultrasounds, and I had to have a couple of extra screening ultrasounds because of high blood pressure and bleeding during both pregnancies, but other than that I just didn't see the point.



If you aren't comfortable doing a full diagnostic workup then don't - it's your baby and your body so it's your choice.

Sherri - posted on 12/21/2011

9,593

15

391

Genetic testing can be a total blessing. You will know ahead of time if there are any issues and I did first trimester testing with the baby I am carrying now and I am so thankful. Luckily he is healthy and all is good. However, we needed to know because we would not have continued with the pregnancy if something was wrong.

September - posted on 12/21/2011

5,233

15

695

Kristy congratulations to you and your family, what a blessing for you all. I personally did not do the screening, I think it's a personal choice that we all have to make and there is no right or wrong answer here, you do what you're comfortable with. I hope that you have a wonderful and healthy pregnancy. ♥

♫ Shawnn ♪♫♫ - posted on 12/21/2011

13,258

21

2015

Good grief, ladies, considering the ORIGINAL post simply said "genetic testing: good, bad or ugly", you're all going to bash me for being rude and judgemental! Enough.

Happy holidays to all, and may God Bless us, every one

[deleted account]

To Kristy-Congratulations on your surprise! Like others said, you need to do what is the most comfortable for you. Testing can give expectant parents an enormous amount of advice and support prior to birth in the event of known genetic issues. Or, testing can rule out concerns and put you at ease so you can relax and enjoy the remainder of your pregnancy. Educate yourself and surround yourself with knowledge. Once you know what you may possibly be up against, you are able to make an informed decision with your partner. All the best to you!

♫ Shawnn ♪♫♫ - posted on 12/21/2011

13,258

21

2015

Erin H, how rude and judemental!



I notice that you haven't bashed other ladies for expressing the same opinion, in a less blunt manner. I'm blunt. If you don't like it, that's your opinion.



Please have the common courtesy to respect my opinion, as I respect that of everyone else.



**Edited to add: I notice that Kristy has added an explanation since I responded. Perhaps that was the reason for your knee jerk response to my response?



Regardless, in my opinion, it was still judgmental and rude

Denikka - posted on 12/21/2011

2,160

5

749

I think if the testing will make you reconsider continuing the pregnancy, absolutely have it. If you're content to accept whatever the result may be, then I personally wouldn't bother.

I had the downs testing done. I could not handle a child with a significant mental disability. I know that. It would be cruel to me, that child, and my other children for SO many reasons. So I had it done. Had it come back positive, I would have opted for the more extensive testing and made my decision from there. I was lucky enough that I haven't had to make any of those decisions though.

It's really up to you. You need to do what's best for you and your family. I think that it's fantastic to have the option though.

Jodi - posted on 12/21/2011

3,560

36

3907

I'm with the others. My pregnancy with my youngest was considered "high risk". I'd had two miscarriages and was 36 (and husband was 40). We discussed this issue with my OB, and decided against anything invasive, because ultimately, I couldn't have terminated anyway, regardless of the results. I DID have the check when I had my ultrasound, but other than that, there was no way I wanted to risk my pregnancy with anything invasive.

I now have a beautiful, perfect (well, ok, maybe not :P) six year old girl.

And just for the record, my step daughter is 19, and she and her little sister adore each other. It's all in how you handle the family dynamics. Your step son will be fine. Perhaps he just has concerns about how this will affect his life (because you KNOW it IS all about him, right?). Once he realises it isn't the end of the world, he will probably come around.

Katherine - posted on 12/21/2011

65,420

232

5193

Now that I'm in the "high risk" pregnancy age range, I don't think any test would matter anyways unless the baby wasn't going to live. My SIL had the test done for downs and it came back as a high risk of the baby having it. He's healthy and fine.

I say if you're going to keep the baby no matter what, don't bother.

[deleted account]

Don't do it if you don't want to!



I was high-risk too, but I chose to have some screenings. One, it helped put my mind at ease to find out my baby was healthy, because I was anxious all the time and that wasn't good for me.



Two, even though I knew I would continue the pregnancy, I thought it would be good to be prepared.



Congratulations! :)



EDIT: Maybe I should clarify. I had a diagnostic ultrasound. I didn't do any invasive procedures with risks of miscarriage.

Carolee - posted on 12/20/2011

21,950

17

585

If it's nothing invasive (meaning just the standard blood and ultrasound tests), I don't see an issue. It could help you be prepared for which possible issues your child may or may not be born with. It's not exact, but if you are the type to want all information you can safely get, I'd go for it. If you're uncomfortable with it, stand your ground.

Ez - posted on 12/20/2011

6,569

25

237

Are you talking about the Nuchal Translucency tests? Ultrasound and bloods? That's the standard test here (Aus) for chromosomal abnormalities, and most people have it. But if you know, without a doubt, that you would proceed with the pregnancy, there's probably no point. The morphology scan at 20 weeks is a better diagnostic tool anyway. So you would still have some notice if there were issues to face at birth.

Elfrieda - posted on 12/20/2011

2,620

0

462

Well, congratulations! What a surprise!



Good for you for refusing. I would have done the same.

Those tests are not completely accurate. There are sometimes false positives, meaning they say something is wrong when the baby is perfect. If you don't want to abort the baby, I wouldn't recommend taking the test at all. Why give yourself needless worry? Take each day as it comes, etc.



I hope everything goes really well and that the baby is healthy. :)

Kristy - posted on 12/20/2011

235

36

37

I am at the end of the 1st trimester. I have to the care team that I will NOT end the pregnancy for any reason and therfore felt that gentic screening would not be productive or approrite and the keep trying to tell me otherwise.
I feel pushed and un-listened to.

♫ Shawnn ♪♫♫ - posted on 12/20/2011

13,258

21

2015

Ok, Kristy, I would make my decision at that point based on why you're high risk? I was high risk for both pregnancies, due to low body weight...I couldn't gain!

I didn'tneed any workups on my kids, but you may be in a different situation. In your shoes, I'd say if it's a risk, any risk to you, it may be worth considering.

But, always remember that you have options, too. If you are uncomfy with what your doctors are suggesting, then ask them to refer you to someone for a 2nd opinion. If they are good docs, they won't mind.

[deleted account]

If you are talking about the screening they can do before pregnancy to see if you and/or your spouse are carriers of certain things... sure, that can be a good thing.

I don't see a problem w/ screening to know what to possibly be prepared for after the birth, but using it to determine whether or not to continue the pregnancy... that I'm 100% against.

Kristy - posted on 12/20/2011

235

36

37

I am about 12 weeks, designated high risk and am feeling overwhelmed and pressured by doctors and care givers to do a complete 1st trimester dignostic work up. But I don't feel comfortable with any of it.

♫ Shawnn ♪♫♫ - posted on 12/20/2011

13,258

21

2015

IMO, if you don't want to accept your baby as God gives it to you, then you shouldn't get pregnant to begin with.

So, UGLY!!!

Join Circle of Moms

Sign up for Circle of Moms and be a part of this community! Membership is just one click away.

Join Circle of Moms