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Category: Prenatal Testing

Asked by marney529

Q: Screening for Down Syndrome and spinal defects

I had my 4 month apt. yesterday and scheduled my anatomy ultrasound for next sat.(yay!!) and my Dr. asked me if I wanted to get the blood test done that screens for Down syndrome and spinal defects on the same day. I said yes. He said if it comes back abnormal they would do an amnio and there is a 1 in 200 chance of a miscarriage.I dont want to do the amnio if it comes back abnormal, but my DH does. I just dont want to run the risk of a miscarriage,but he said he would want to know what is wrong. Has anyone had an abnormal screening blood test and had the amnio done or not done? Should I just skip the blood test all together?I am 29 and my Dr. said the chances are low because of my age, but he said it is all up to me.Any advice would be great.

This question was asked Oct. 23, 2012 3:55pm
Category: Prenatal Testing

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Answered by marney529 - Oct. 25, 2012 3:53pm
So my DH and I have decided to skip the blood test all together because what is it really going to change?We will still have our baby and that is all that matters.He or she will be loved no matter what. Thank you everyone for your imput and all the information you gave me.

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Answered by bahoward - Oct. 24, 2012 1:38pm
my blood test came back abnormal and i was sent to another doctor and he did a more in depth ultrasound and said he didnt see anything abnormal and my regular ob redid the test and it came back normal i was offered to have an amnio but i refused

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Answered by SydneeMomma - Oct. 24, 2012 1:35pm
There is a new test called "MaterniT21" that's just a blood test where they sort out the baby's DNA from's yours. Just a regular blood draw so no risk to you or baby. It's 99% accurate, and insurance often covers it. I recommend that one if you're concerned about the risks of the amnio. That's what I did. Best wishes!

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Answered by Mrsfroomie - Oct. 24, 2012 1:16pm
The amnio is not a big deal at all. I have had two and will 100% have another.
If you have an experienced doctor and you check out their track record it's really not a terribly risky procedure.


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Answered by a member - Oct. 23, 2012 11:58pm
Just skip the test... your baby needs you :)

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Answered by -Lee-B - Oct. 23, 2012 11:56pm
I found this decision really hard. I don't think I want to know as it wouldn't change anything but add stress to pregnancy. I have worked with a handful of kids with down syndrome and have studied it a lot so feel I have a basic understanding to work with. But I kind of think it would help my husband to know ahead of time to prepare (he's an engineer and needs to know/understand things). If it were all 100% confirmatory with the tests maybe I'd be more sure in my decision but find the results a bit doubtful.

Anyways I ended up doing the full testing. The ultrasound at 12 weeks and 2 step bloodwork. Largely because it meant an ultrasound being booked earlier for me as they hadn't mentioned doing an ultrasound yet other wise!! If you missed the 12 week ultrasound measurement then I'd be more weary of what the results say as the one step blood work (skipping the ultrasound and blood work at 12weeks) is more likely to have false readings (thats my understanding).

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Answered by nwelch - Oct. 23, 2012 11:13pm
I avoided the whole test in general. I didn't want to know, it wasn't going to change my mind about having the baby I would keep it either way, so I didn't do the test.

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Answered by a member - Oct. 23, 2012 8:54pm
The screening is supposed to be done between 11 & 13+6 wks. The ultrasound screen is a moot point at this stage because the measurements of the nuchal fold need to be done then. The blood screening will still show if theres anything abnormal but there are alot of instances of false positives.

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Answered by a member - Oct. 23, 2012 5:36pm
The blood test is just a screen...it's not a confirmatory test. The amnio is a confirmatory test. It would diagnose if there are any genetic abnormalities such as down syndrome or any other chromosomal anomaly. High grade ultrasounds can not detect for down syndrome, they can detect for defects associated with Downs...however not all Down's babies have those anomalies (heart defect, intenstine blockage...etc). And those defects can be present even without Down Syndrome. If you do the screening, and it is abnormal then I would worry about the amnio at that point. There's no point in stressing prior to doing any testing. I am 33 and I was told the same thing by my OB, the risk is much higher of having a baby a genetic abnormality after advanced maternal age (which is 35). We had decided if we have an abnormal screen we would move forward with doing the amnio (which if done by the proper person has less than 1% chance of miscarriage). My screen was normal and amnio never came up

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Answered by momtobe1992 - Oct. 23, 2012 5:02pm
I had a screening around my 15-20th week. I told the doctor right away that I didn't want a amnio. According to what my doctor told me, the test can come out abnormal and the baby can still be fine. A abnormal test doesn't mean for sure that baby has spinal defects or down syndrome.

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