Genetic testing - what is happening ?!

[Cathrine]

Hello everyone!

I was at my Nurse's office yesterday and we talked about the quad-test - the test genetic test that tests the likely hood of genetic abnormalities such as Down's - which I'm absolutely terrified of. I'm currently around 15 weeks pregnant and have had no ultrasound or first trimester genetic testing. My nurse will is very calm about all of this and states that with my beautiful blood work and 24 years of age, there's no need for concern and actually discouraged me from having the test all together, as the margin of error is around 20%.
First of all: my husband does not want to have test done. Second: I live with a great deal of anxiety and will stress myself out even at a false positive. Third: I've read up online (you know how it is!) And it says that quad test had an error margin of 5%. What do I believe?

I don't feel in safe hands anymore with the nurse I used to adore, as I feel like most women at this time in pregnancy knows far more than me and have had waaaaay more testing done!

What's your experiences?

Thanks for reading

 

[Tillyfloss]

I personally haven't and won't be having them, as no matter the outcome It wouldn't change anything, only make us nervous anxious and worried for the remaining pregnancy. I understand everyone is different and have to do things that suits their life style,
If your husband doesn't want it and you will worry, why have it? As you will worry, the tests only tell you the percentage of the baby gave something wrong not if they actually do, I know it's a tough decision for some, I've not read leaflets as I 100% don't want them x

 

[KateK]

Hi Cathrine, hope you're doing well, I remember you from your other thread - seems like things are going better?!

I personally have had the screening tests that are available here in the UK because, even though my baby having a genetic condition wouldn't change my wanting them, I would rather be prepared for it than have it sprung on me amidst all the other difficulties of being a new mother. Don't worry if it seems others have had more testing, in the UK at 15 weeks you may have had a dating scan and the combined test for 3 genetic disorders but other than that it's just blood pressure and wee they're looking at I hope you get the joy of a scan soon..

It's such a personal decision, I am also quite an anxious person and I am not sure I could go through an entire pregnancy knowing nothing, but that's just me.. Try not to lose faith in your nurse as it sounds as though you have a good bond, advice is often conflicting, maybe just mention it next time you meet. Could it be that you looked into a slightly different, private testing clinic who offer different levels of accuracy to the one she was advocating? We have several genetic tests here, the combined one which we are all offered has a much lower degree of accuracy than another private blood test called the Harmony test for example..

To put it into perspective I am 17.5 weeks, and I know that my baby has a 1 in ** chance of having Down's, and a separate 1 in ** chance of having Edward's or Patau's. I have had a quick scan to measure the baby and confirm due date. Other than that I have no idea what's going on with my little baby so don't stress too much about not knowing as much as others xx

 

[Tigeress]

I didn't have any tests done either. I honestly don't care as we will love our child weather it comes out with purple spots. I didn't want to worry myself throughout if it came back high, which was unlikely anyway as I'm 25. Just relax hun and stop using Google. As much as a godsend it can be, it can also be our own worst enemy. I can understand why your worrying but try to keep calm xxx

 

[Amy0801]

Hi Catherine
I had the screening tests which were done when I had my 12 week dating scan. We decided to have them because we have a 6 year old daughter who is autistic so it was a case of if there is a problem with the baby would we be able to cope when we already have a child with additional needs..thankfully they came back low risk but that is not to say this baby will not have autism as well that is just something we will find as she gets older. I know not everyone will have the tests...each to their own choice...but I used to work with a lady who's Niece was in her early 20's and she had a little girl with Downs and they didn't find out until she was born so it was a shock because it wasn't in the family and she was young and most people asume it is older women who have babies with Downs. I also suffer with aniexty and knew that if I didn't have the screening tests I would worry none stop and like Kate said when baby arrives there is so much more to worry about without the added stress of finding out there is a serious problem. At the end of the day it is your choice..I would go with what feels right xx

 

[Papermoon]

I guess it depends on what would stress you out the most. Some people are more stressed to have it sprung on them at birth and some are more stressed to be told something during pregnancy that may be wrong anyway. To me the test is useless since it's not 100% accurate. It could give a false positive and cause someone more stress during pregnancy than they need, and be wrong and the child is perfectly normal, or it could say everything is fine and give the person a false sense of okayness and then they are even more shocked at birth since the tests lead them to believe everything is okay. Either way you still could be in for a shock. I'm the type that too much information for me just causes more and more stress. I would just worry and worry which is not good for the baby either. I know that whatever the baby looks like when he's born I will love him, and I feel like for me that finding out something at birth may be easier for me since I will fall in love with him as soon as I see him and hold him no matter what, so that will soften the blow to me, more so than to find out something before he's even born and before I get to hold him and look at him. I just want to enjoy this pregnancy as stress free as possible. So less information is better for me. To me the thought of something is worse than the actual thing itself. I prefer stuff to happen before I have a chance to think about it too much and dwell on it too much because my thoughts alone will turn something small into a big monstrous thing. But that's just me. People are different. You know yourself, if it will cause more stress and do more harm than good to get the tests, don't get them. I'm the type that I deal with whatever the situation is, when it's actually happening, better than the thought of the situation and what might happen. If it happens, I jump right into it and deal with it, but if I have a long time to think about it before it happens, I don't deal well with that.

 

[babybee]

When will your first scan be? Even without testing a skilled technician can usually spot any markers of any sort of genetic conditions and suggest further testing is necessary should you wish it to take place.

This is my 3rd pregnancy and ive been tested each time. The result would never change the outcome of the pregnancy but just help me prepare for what could potentially be quite an emotionally difficult time after the birth - not just for me but for my husband and young daughters. My eldest was very ill when she was born and it was mainly the shock of finding this out soon after she was born that was psycologically the hardest thing for me to recover from. So the only reason I have the testing that is offered is to see the likelihood of any problems at birth.

I hope you are feeling ok and things have sorted themselves out so you feel more positive.x

 

[BunnyN]

I seem to remember the margin of error is different for a positive or negative. I think that a negative result has a much higher chance of being right whereas a positive result is often wrong. The nurse may also be basing her advice on your specific age and circumstances etc.

I am 24 weeks and other than our scan and basic blood test in tri 1 for iron etc and urine tests havent done any testing at all. With my last pregnancy the sonographer found DS had a large NT measurement giving a high chanc of DS so we decide to do the harmony test privately. It was a bit pricey but is much more accurate than the free tests we were offered. I didn't really see the point in them because so many are wrong so it might just make me worry more and I didn't want an amnio.

 

[Cathrine]

Hey guys!

Thanks for the many different replies - different as they may be!

I've taken a long hard thought about it, and I've decided against the quad test, as baby looks perfectly normal in my ultrasound. I live in America at the moment, so private testing outside my health care is extremely expensive, and money I don't have as a single mom - otherwise I'd have chosen that do diminish the margin of error.

I honestly feel like a test like that might prevent me from bonding with baby as well as I'd like, as a lot of things happened very fast in my life after I got pregnant, so this little thing is the absolute joy of my life and I don't wanna compromise that in any way or even take some of the joy out of my first pregnancy.

I'd love to hear more stories!!!

 

[Rhiandell]

I was pretty reluctant to have the screening for Downs and the others but did it for my boyfriend's sake.
Since we found out at the dating scan we were expecting twins, we couldn't have the screening then, as they want you to have counseling first. So we were in complete shock, sitting down with a specialist midwife, who was fantastic btw, telling us that the results are much, much less accurate with twins and they can't tell which twin it is without going forward with amnio. It's extremely unlikely to be both twins unless they are identical.
And then she goes on to explain that if we have the amnio, the risk is higher since they have to stick the needle in twice, so maybe as high as 5 percent risk for miscarriage. Then comes the worst part. If it's only one twin, the can inject something to make its heart stop. But it will still be there while the other one continues to grow.
At this point, both bf and we're crying and in complete agreement that we were not going to do the amnio no matter the screening results.
In the end we decided to have the screening, mostly in the hope of getting a low result and being able to relax. Of course, it's possible to get a false negative, but as mentioned above, it's a very small risk. If we had been high risk, we would probably have gotten harmony.
It's a hard choice, and everyone has to figure out in their own circumstances.

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