My genetic counseling appointment - What a relief!

minnesotagal

Pregnant - 2nd trimester
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Hi gals,
I just got back from my genetic counseling appointment and wanted to share my experiences.

Last Monday, I got a call from my clinic that I had elevated risk for Down Syndrome. The Dr. I spoke with told me I needed to schedule a Level II Ultrasound appointment in the next few days (even though I was 16 weeks), and then I would need to decide RIGHT AWAY if I wanted to get an amnio, which I would need to get by 18 weeks.

**NOTE** the above information is NOT true.

After a week of trying to schedule an appointment and stressing out beyond belief, I found out the following:

1) My risk is BARELY inflated, compared to other women my age
2) I can't even get a Level II Ultrasound until 19 or 20 weeks
3) You can get an amnio at any point after 15 weeks (turns out she was thinking of the cutoff that might limit pregnancy termination - something we are NOT considering).
4) If I want to get an amnio after receiving the Level II Ultrasound results, I can get it RIGHT THEN.
5) If there is something serious going on with my little pumpkin, and it gets picked up at the U/S appointment, it's still plenty of time to prepare for whatever baby I am getting.

What is the point of this story?

If you get information about a triple/quad screen from your O/B, Midwife, Dr, etc, make sure they have explicit training in interpreting these results. If not, talk to a high-risk genetic counselor.

It was SO reassuring to talk with her. The only downside was that I learned that there are SO MANY things that could go wrong in pregnancy that can't be detected by ANY test... but weirdly, that reassured me. This blood test got me all worked up, but I am still pregnant with the same baby I was pregnant with before the blood test! Predictions of risk are no guarantee either way. And with most things, there is NOTHING I CAN DO until the baby is here anyway.

Yes, there is something to be said for having time to prepare... but the only sure-fire predictors of a few genetic disorders (like DS) is an Amnio... something I am not just going to get willy nilly.

If we have another baby, I won't do the blood test, and we'll just find out what we find out at 20 weeks.

I hope this info is helpful for anyone else dealing with blood test results that indicate higher risk.

Hope you lovelies are having wonderful weeks with much less worry!
 

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