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Trisomy 18 Rss

Hi all! I just need to hear some of your experiences with testing for trisomy 18.
I had the NIPT at 10 weeks and everything came back at low risk including trisomy 18. When I went for my 12 week NT ultrasound yesterday we were expecting everything to be normal however they were unable to confirm that all four chambers of the heart were working as they should be. The doctor told us it’s possibly because at 12 weeks the baby is just too small to be able to tell properly and also he was moving around too much to get a proper look. They still referred me to a specialist in 2 weeks though.
They called me today to tell me the blood test I did after the ultrasound returned an intermediate risk or trisomy 18 (1:500) but this mixed with the problems with the heart has them worried. They did say that the thickness of the neck measured normally but I’ll need to go back and see them to discuss our options. This is our first baby and I don’t know what to expect with anything so I’m just so worried and scared. Has anyone had a similar situation? Thank you!
Hi! I havent been in this situation, but I know you must be feeling so stressed out. Firstly, the NIPT and maternal serum/nuchal translucency scan are NOT diagnostic. Your NIPT is low chance, and NT looks normal, so two out three look good. When I had the NIPT test, I asked my midwife if I should have the maternal serum done too, and her advice was not to because the results can be conflicting, and NIPT has a higher level of accuracy and can cause a lot of extra stress.

Your options at this point are to wait and see or to get a diagnostic test done. At the moment, you could have chorionic villus sampling, or if you wait until week 15 you can have an amniocentesis test. These are both invasive tests that come with a small chance of miscarriage. Amniocentesis comes with a smaller risk than CVS. They sound scary, but they are performed quite a lot, with people who know what they're doing, and if the results come back clear you will get some peace of mind. But its super scary, because its not without risks, and of course if it did come back with a trisomy 18 diagnosis thats going to be really difficult for you.

I wish I could tell you its definitely all going to be fine and you don't need to worry. But your NIPT is a good sign, and I'm hopeful that your baby will be perfectly healthy!
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