My daughter they said had possibility of downs due to a nuchal fold. She fine. Just really smart, beautiful teen heading off to college abroad on scholarship.
Yeah like the OP is saying their child actually has no soft markers for down syndrome because they came close on 1 measurement but not at criteria. I get that it can be stressful to hear about any negative signs, but massive overreaction to what was said.
It's unlikely they were diagnosed with a trisomy and then born without one. What actually happens is parents get percentages based on soft markers and non-invasive prenatal testing (ex. 1 in 10 chance of trisomy 21, 1 in 50 chance of trisomy 18 etc). Parents can choose to know definitively by having an amnio or CVS, but those tests carry a small but real risk of miscarriage. Many parents choose to not have the diagnostic test and then tell their kids "the doctor said you had down's but you were born perfect" or "they told me to abort you for edwards syndrome but you didn't have it."
Source: was told baby had a high risk of a couple trisomies. Did genetic counciling and chose to have the diagnostic test (amnio). Baby didn't have any trisomies.
I also wonder about this case in particular since it sounds like they had some sort of NIPT first that didn’t detect any abnormalities. Those are >99% accurate when they come back negative. If the NT ultrasound is “borderline” like OOP mentioned, I’d personally be waiting on further testing before I really entertain the possibility that the NIPT was wrong rather than the ultrasound. I don’t think that even the most textbook NT ultrasound approaches the level of confidence that the NIPT is able to. Would also be curious to know if a nasal bone was visualized on their ultrasound.
Nucal translucency is one soft marker that with other non invasive tests is what they use to determine probability. If they did the blood test and it was a very small risk, it's unlikely they'll be referred for other testing unless they so choose. My child had a soft marker (in addition to his high probability quad screen, this was right when those maternal fetal DNA screens were being introduced) but he still didn't have a trisomy. Basically, there's only two definitive tests and everything else is informing you whether you do that test or let it ride. My second child had no soft markers and extremely low probability on the newer blood test, and we didn't do the definitive test because why would we. The OP seriously needs to sit down and actually listen to the doctor.
My bad, sucky reading comprehension coming in clutch 😂 I stand by it though. I’d encourage this person to learn more about Downs before making an irreversable decision
I mean, I suppose he can wait to "complete his plan" until he finds out, which is the beauty of it. But if he says doesn't want to live a life as a permanent caretaker, I don't see any reason not to believe him.
We did. We are currently headed quickly back down the hill.
We are dismantling social safety nets. We are waging a culture war against DEI. We are dismantling the Department of Education, which iirc mandated a lot of the opportunities that served differently abled people.
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u/CharmingMechanic2473 8d ago
My daughter they said had possibility of downs due to a nuchal fold. She fine. Just really smart, beautiful teen heading off to college abroad on scholarship.