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Screening and Diagnostic Tests Advice

574 Views 11 Replies 12 Participants Last post by  LindsayK
Has anyone done them yet? Why/why not?
I don't want to take any except the 2nd tri u/s b/c i don't want to cause unnecessary worrying and freaking out if i get a false positive. BUT I dont' know what I would do if i got a positive. I don't want to be happy in ignorance but I'm not sure what I want to know or if I would do anything. My husband wants to do one of the blood tests and they sound like there's a lot of room for error with them. But then I read somewhere than an early u/s is more accurate than the blood tests (quad screen, combined screening). I don't want to make these decisions when I'm in such an emotional state!
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I decided against them. The first trimester screen is the most accurate, it combines a blood test and ultrasound. I didn't want an early ultrasound because I don't believe they're totally safe (although I ended up with a quick one in the ER over the weekend) so I turned it down. I was going to have the quad screen but it would be done the same week I'm having my 2nd tri ultrasound, and my midwife said they'd see any neural tube defects on the ultrasound so it's not really necessary to do the quad screen if I'm not worried about downs (I'm having a baby at 26, so I'm low-risk for downs).
There's not really a risk of false positives, because it's not a +/- screen. They give you a 1 in xxx chance of your baby having x defect. If it's high enough they recommend more screening (CVS or amnio).
I did the first trimester screen (ultrasound and blood test combo), and my numbers came back low-risk. I'm 37, so without the screen they do recommend amnio, and this pushed me into safer category, which was good.

Later, however, they told me to have a consultation with a perinatologist, since I'm over 35. The guy who I met with seemed very interested in pushing amnio on me, and he reassessed my risk to be higher than the triple screen would indicate (though still not high -- my risk was still lower than average for my age). So far I have not been given enough evidence to convince me that I need amnio, as it carries some risk of loss.

I wrote a long post about that experience on the July DDC -- I'm due July 31, so I kind of pop back and forth here and there. My post on that experience is at

Good luck with your decision.
I'm not doing it because it's not 100% and there's no point in worrying about it unnecessarily. As well I wouldn't abort based on the results so I just see no need to do them. It's a hard decision, good luck.

Originally Posted by Dahlea View Post
I'm not doing it because it's not 100% and there's no point in worrying about it unnecessarily. As well I wouldn't abort based on the results so I just see no need to do them. It's a hard decision, good luck.
I can't think of any abnormality that they could detect that we'd be able to cure or treat in utero, and we'd never terminate based on an illness/abnormality. So, it'd just cause unnecessary stress for us.
(I did have an U/S at 10w3d not for screening purposes though, but if they did find anything there, our MW will go over it with us on Friday at our next appt.)

We will do the anatomy scan b/w 18-20 weeks, so I guess we're doing some screening... but no matter what, I dont think I'd do a CVS or amnio... too much risk of loss, esp when we've already had one.

there is a lot of information about the benefits and risks associated with each, and info about what they might find, and how/if it's treatable. Good luck!
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I've had the integrated screen with 11-14 week nuchal translucency ultrasound and 1st + 2nd trimester blood tests. It lowered my risk a lot from what it was being 38. I'll also have the 18-20 week anatomy scan.

I told my OB and the genetic counselor we definitely do not want to do amnio or CVS, they were fine with that. We wouldn't terminate, but thought it might be useful to be prepared if there were a high risk of something.
Hey Kim,

I had my combined screen on Monday.
Our midwife asked if we wanted to do any genetic testing and my first instinct was not to, because I thought the tests would be inaccurate and might cause a lot of unnecessary stress. We then mentioned that if we knew for sure our baby was severely mentally disabled that we would terminate the pregnancy (I understand and respect that everyone has a unique opinion about this). She responded that she would strongly recommend we do the combined screening at 12-13w, if that was the case.
So, I had the u/s which looked perfect and the blood test for which we haven't gotten results.
I realize that this scan can't detect every problem. My child may very well have some unforseen defect. But I have a cousin whose son was born 15 years ago with a wide range of severe physical and mental problems, and his parents knew about his issues very early in the pregnancy and they chose to move ahead, due to their personal values. I guess I'm saying I've considered this exact question for many years and it's had a definite impact on the way I see life.
Again, I want to say I post this not to judge anyone, only to share my personal experience.
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I am only doing a 20 week anatomy scan U/S. If they do find something in that I may do further testing, however I will not do an amnio due to the risk of loss. The genetic testing is only catches about 60% or so of what they screen for (trisonomy 18, Downs, neural tube defects) so I am just going to wait for the U/S and see what happens. Even then, I would be hesitant as I do not want to terminate on the CHANCE that something is wrong. I want to save my self the worry, which there will be plenty of after the baby is born, healthy or otherwise.

For what it's worth, I read something about soft markers in ultrasound today and it said that they are not a reliable indication of abnormalities and many babies where soft makers were detected were born perfectly healthy.
We will do the quad marker and 20 wk growth scan. We wouldn't do anything with the information except prepare ourselves for the possibilities and research as much as we can before the birth. we realize that it could always give us a high risk ratio and everything could be fine. Haven't given much thought as to what testing we will do if the results show anything. We say now that we would not do an amnio but we are not faced with that decision right now nor do we anticipate a problem so who knows.
I will do any dating/anatomy ultrasounds they want me to do but have refused any screenings. Regardless of what they might find it won't impact my decision to carry to term.

I already helped my sister mother my niece (who has a seizure disorder, sensory problems and fairly severe developmental delays) through the first 7 years of life, while living with them. And my last job was working with children and adults with developmental disabilities. So I'm tough enough and know I could handle most anything that God decides to throw at me - not that it's easy, but I know I'd do it for my child.

And thing they would find that would result in death, well they can't fix it - so I'll let it happen on its own time line.

Originally Posted by Dahlea View Post
I'm not doing it because it's not 100% and there's no point in worrying about it unnecessarily. As well I wouldn't abort based on the results so I just see no need to do them. It's a hard decision, good luck.
This is me. Good for high risk, unnecessary for routine use, IMO.
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We're doing the 18 week u/s which will hopefully show us that everything is looking perfect and good. I had not at all considered doing the quad test because we wouldn't terminate and I don't want the worry.

However, my husband has a sister with severe mental and physical disabilities due to a neural tube defect (most likely due to no folic acid in pregnancy, but impossible to know now...) so a NTD is definitely something higher on our worry list. My midwife brought up a good point that if we did the part of the quad test that gave odds for a NTD, if the scan DID show a possible abnormality the blood screen would give us a better idea of what was going on, and how we could manage those medical conditions.

So, I am now considering having that one part of the quad screen at 16 weeks, and just telling my midwife I don't want the results unless something bad comes up on the u/s at 18 weeks. That way, we have the info if we were to need it, but not the worry!
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