Can You Reassure Me About Down Syndrome Test Results?

[korey]

Hi All - I'm cross-posting this in a few places, just looking to get as much info (and hopefully reassurance) as I can. Thanks in advance for any info you can offer.

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I had my NT scan and finger prick test one week ago, and I got a call from the doctor's office today. My risk for Down Syndrome is 1:712. I'll post all my numbers below.

The genetic counselor said that everything is in the normal range and that most doctors would say everything is fine and send you on your way, but this office likes to do additional screening if the risk is less than 1:1000. They want me to come back in 3 weeks to do an early anatomy scan and a quad screen. (The quad screen is like the triple screen, but it tests for one additional protein.) She said this test would determine whether or not I would need to make an appointment with her (the genetic counselor) to discuss a possible amnio or CMV.

She did say that it was my choice to do the additional scan and blood work in three weeks and that many people choose to skip it, but of course I'm now worried and definitely going to go for the additional screening.

Here are all my numbers:

Down Syndrome Risk 1:712
Risk for other disorders tested for: < 1:10,000
HCG 1.76, 80th percentile
PAPP-A 0.86, 40th percentile
Nuchal fold 1.7 mm

NOTE: Based on age alone, my risk at 34 would be 1:308, so my risk actually went down with the blood work factored in.

Mamas, can anyone reassure me? This is my first baby and I've never been through this before. Am I all worried for nothing?

Thanks so much for any info you can offer.

[Jayray]

1:712!!?? That is basically zero chance. I mean, in normal life circumstances, that's nothing. It's sort of like saying, if you gave birth to 712 children, one of them would have down's. I personally wouldn't do the extra testing. I think it is unnecessary stress.

[Bokonon]

Originally Posted by Jayray

1:712!!?? That is basically zero chance. I mean, in normal life circumstances, that's nothing. It's sort of like saying, if you gave birth to 712 children, one of them would have down's. I personally wouldn't do the extra testing. I think it is unnecessary stress.

I wouldn't worry at all about 1:712. With my kids, the risks came back at 1:23 and 1:16 and they were both fine. I had an amnio with DS because he had a couple of soft markers for genetic abnormalities, raising the risk to 1:11, but everything was fine. With DD, I declined the amnio because she had no soft markers.

[Ellen Griswold]

I agree with the previous posters, that seems like a bit of an over-reaction to me.

[MaerynPearl]

To put it in perspective... 1 in 700 is the risk that ANYONE (no matter age, family history, any of that) will have a child born with cleft palate... but it is still very uncommon.

The fact that your risk is over twice as much LOWER than what it should be at your age (from what I have seen, age 35 is 1 in 350 without any other factors added in) would be a very comforting thought to me!

They obviously cannot tell you for 100% your baby will NOT... but the risk of it is so low, that there is way less than a 1% chance of it occurring.

[finnegansmom]

Originally Posted by Jayray

1:712!!?? That is basically zero chance. I mean, in normal life circumstances, that's nothing. It's sort of like saying, if you gave birth to 712 children, one of them would have down's. I personally wouldn't do the extra testing. I think it is unnecessary stress.

Yes. I'm pretty ancient, I would be pysched with those chances! 1 in 712 would have be signing from the rooftops...

[mckittre]

That sounds ridiculous. I had the blood test done, it came back at 1:350, and the midwives told me that was totally normal and nothing to worry about. I'm inclined to agree.

I'm pretty sure that even in a really good doctor's hands, the risk of miscarriage from amnio or CVS is higher than 1:712. So if you go for further testing, there's a much greater chance that you will cause miscarriage of a healthy baby than the chance you have a baby with Down's. You have a 99.9% chance the baby is fine.

Really, I'm sure that there's a greater than 1:712 chance of all sorts of bizarre and rare things happening to any of us, that we never give a second thought to. Your office sounds like they're fearmongering to get more tests done (to get more $?)

[mediumcrunch]

I had a 1:120 chance with my 8th child. Bloodwork + 1 soft marker. I declined an amnio and he was born with no extra chromosomes.

IME, unless you have a risk greater than 1:200/300 amnio is not recommended. My MFM quoted his miscarriage risk after amnio at 1:1200 and still didn't recommend an amnio for me since I wouldn't terminate regardless of results.

[lillymonster]

I am 39, so my "risk" is 1 in 90. My test came back like yours, 1 in 700

Unless you have genetic issues in your family, 34 seems kind of overreacting to even do the testing to begin with. I had my first child at 36. I never got NT scan before, I just did the quad screen and was told everything was fine. This time I opted for NT testing because I'll be 2 weeks away from 40.

They pushed the amnio on me too, saying things like "this isn't 100 percent, there is still a risk, and the ONLY way to be sure is the amnio, so lets just schedule that for you know" um...no.

I am up for any blood test and scans on me, but I will not do amnio or cvs, the risk of miscarriage worries me. I don't even know any other numbers, I have no idea what the nuchal fold measurement is or not, just the downs risk.

Your numbers are great. Whether you want the amnio or not is up to you, but I would not base it on those numbers alone. I personally think an amnio at the age of 34 is a little overreacting, but I am not a doctor or anything.

[gradstudentmommy]

Your numbers look great! I personally wouldn't have any invasive tests like amnio or CV done. I would do the anatomy scan just because it checks for other things like heart defects, but not because I'd be worried about Down Syndrome. Plus I just love seeing my baby on the ultrasound.

[korey]

Hi Everyone,
Thanks so much for all your reassurance and kind words. I spoke to a lot of family and friends and sought a lot of feedback online, and I'm feeling much better.

Honestly, when I look at it rationally, my risk is pretty d@mn low. I think the real problem was the initial scare of being told "we recommend more testing."

Not to mention, I've been extremely hormonal lately and I can burst into tears at the simplest thing, so of course this news instantly set me off! But after having some time to think about it, I'm feeling a whole lot better and a whole lot more "sane."

I really appreciate everyone taking the time to "talk me down." Thank you all.

[guest123456]

When my mom was pregnant with me, she had each of the tests done and was told I had Downs Syndrome. I turned out completely normal and healthy, though after she had the amnio done (they didn't tell her beforehand about the risk of miscarriage). I'm not having any tests, ultrasounds or doppler, just waiting to meet my little one in person! Don't worry, your risk is super low : )

[Oceanone]

My risk was around the same, due to my age last year. It was considered a very good, reassuring result. I now have a healthy, gorgeous baby girl. Best wishes to you, enjoy your pregnancy! Glad you are feeling better.