*edited* Possible Down syndrome ? - HELP!

Question

I would like to start by saying I have no problem with special needs babies/people. I think they’re amazing, I’m just anxious of what my future will look like because my OB made this sound very scary so I wanted to hear other opinions 
The other week, my OB office did a genetic test. It was one where they pricked my ring finger and then squeezed my blood onto a piece of paper. I was going to do the one that tells gender but it was $300 and the office said they didn’t think it was necessary. (I still don’t understand the difference of tests aside from the gender-telling and they can’t explain it either?). At this same appointment, they also did an ultrasound and the nurse told me there was no sign of Down syndrome from the ultrasound so I thought I was clear. I’m only 19 and my boyfriend is 22 & there’s no family history on any side so they didn’t think there was really even a chance. I heard ALL of the nurses discuss to/around me that it was unnecessary because of those factors. Well today they called me and told me that it showed that baby has an “increased risk” of Down Syndrome and that getting the other test done was urgent. I have to get the other one done tomorrow morning and will get the results back in 10-14 days. I’ve had some people tell me they think they’re making it a bigger deal than it is bc they noticed I was on the fence about spending the extra money. I don’t know what to think and I’m worried about raising a special needs baby so young. 
Has anyone gone through this? Advice? Input? I’m lost.
Edit: I don’t know why there was an increased risk. They didn’t really tell me much. She just said it’s what my blood test results showed and didn’t really elaborate

Answer

What did they say were the reasons for the increased risk?

Answer

Unfortunately, Down Syndrome is not hereditary (99% of the time anyway), so family history isn’t a good predictor here. The NIPTs will give you a better idea of how at-risk you are, and then you can decide with your doctor whether or not you want to do some more definitive diagnostic testing. These blood tests are not at all diagnostic and plenty of women who receive high-risk results go on to have perfectly healthy babies, so try not to get ahead of yourself!

Answer

I was also assessed as high risk according to my first trimester blood draw + Nuchal translucency ultrasound. According to the ultrasound my baby looked perfect, but my bloodwork showed that I have low PAPP-A, which is why I was considered high risk for Down syndrome. However, I was told that the ultrasound is a better indication of Down syndrome than the blood test. The blood test is a better indicator for placental issues which can lead to low fetal growth, stillbirth, preeclampsia, etc. I still did NIPT to rule out Down syndrome, which came back normal. Next time you speak to your genetic counselor I would definitely ask why you were high risk because that might give you insight to other potential issues. I had preeclampsia with my first baby so I already knew I was high risk again this time, but the blood work confirmed it again. Now that my dr knows my risk she put me on low dose aspirin and she will start doing non-stress tests regularly to make sure everything is healthy.

Answer

We have something similar going on, we had a nuchal transparency test done and during the ultrasound the reading was high and they also found fluid around the heart,lungs and abdomen. We were referred to a genetic counselor cause with all that that put us at a higher risk for a chromosome/genetic defect.  I had maternit21 blood work done and also had a chronic villus sample done as well. That was around 11 weeks we r now 14 weeks and still waiting for third round of results to come back. So far everything has been coming back normal which is good but if the third comes back normal we will have to check on the fluid and see if it is then a structural issue and if it is we will have to figure it out from there.  
Some people have said we have over reacted and we are wasting money. But for us we wanna know. We already talked through the what ifs and what could happen so no matter what we are prepared for any decision we have to make. I'd rather be able to know what we are gonna do then be blind sided later on

Answer

My ultrasounds with my first son were all normal looking, I’m under 35, and had no history in my family. My blood work came back high risk & o had to have further diagnostic testing to confirm he did in fact have it. It can happen.

edited Possible Down syndrome ? - HELP!

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