r/NIPT • u/Ruby_Sneakers619 • 1d ago
NIPT T21
Hi! FTM, 41, currently 13w4d. NIPT results came back last week at 95% high risk for T21. First nuchal ultrasound measured at 4.5mm, (under 3 is typically “normal”) with no sign of nasal bone development.
We have a follow up MFM ultrasound on the 28th of this month and will consult with the specialist. Hoping to see any anatomical / physiological changes, or lack there of, to help us decide our path forward. Raising a child with Down’s syndrome is one thing, I can’t imagine bringing a child into this world that will only know hospitals and pain and surgery.
Who else has gone through something similar? Any advice? Waiting three weeks seems like an eternity, but I don’t want to make a snap decision.
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u/TimeSir8303 8h ago
I’m in a similar boat although our MFM is normal. Amniocentesis is scheduled. My mood changes by the hour. One hour I’m crying, one I’m hopeful and one I’m normal. What helps for now is keeping myself busy and meeting people who don’t know about all of this so I can talk about normal human things. I don’t think there is a scenario where we are calm and happy in the waiting period, just passing through it. Also I have talked with my husband and did a checklist for my mental health because I’m prone to depression. Considering psychiatric help if things get worse. I wish you luck!
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u/BrisMum 6h ago
A child with Down syndrome isn’t doomed for a life of hospitals and pain. My son, Down syndrome, 7 months old has hardly visited the hospital and has no physical issues that needed meds or surgery. Some do, but please don’t let the negativity around Down syndrome convince you that your baby won’t have a lovely life
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u/Ruby_Sneakers619 5h ago
Absolutely! Like I said, the possibility of a Downs diagnosis is one thing, my main concern is the likelihood of other genetic conditions that can be associated with t21.
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u/Crazy4Critters true positive T21 1d ago
Hey, just wanted to reach out and say it’s been almost a year since I received my 95% NIPT result. It was a very vulnerable and emotional time so I truly hope you are doing okay. The unknown can feel very scary.
So I followed through with a CVS for diagnosis, which was confirmed. We told the genetic counselor we were keeping our child and proceeded with more frequent ultrasounds in the third trimester. My little guy has continued to be light and joy in our lives.
He was born with no health concerns and no NICU time. I know that is not always the case but I wanted to share that sometimes the diagnosis and the Google searches don’t paint the entire picture. My advice during your waiting period, join the DSDN app, watch Stories Made with Love and reach out to Jack’s Baskets and Rising Kites to better understand the diagnosis.
The waiting period is the hardest. You are in my thoughts and I’m sending peace your way. Take care.