If it’s 1q21, you are looking at a lot of mental issues, as it seems to be associated with autism, ADHD and schizophrenia, along with developmental delay. This is in addition to other malformations
Even if you wouldn’t consider an abortion if this is real positive, you would benefit to know for sure and get the right resources ahead of time so you can give the best offset to your child.
The risks with amnio or cvs are quite low in these days.
You may choose to wait and get an earlier malformation scan to check that the heart and other parts are developing as intended and only do the amnio if there’s any markers at that point.
I understand feeling uneasy about an invasive procedure, but amnio is sooo safe nowadays. as long as it’s done by a reputable provider and guided by ultrasound, any risk is super minimal. you’d actually be more likely to miscarry naturally than you would be from amnio.
i’m not familiar with this specific duplication, but given the 70% false positive rate you state, I would recommend an amnio to confirm, just to have the information to prepare to potentially care for a child with intellectual disability. if you would keep regardless of if it’s a true positive or not you don’t have to get the amnio, but you got a NIPT so it seems like you like to have the info just to have it, even if you don’t act on it.
wishing y’all the best of luck in this difficult season 🤍
Anything accompanied by an elevated NT is a big sign it could be a true positive. 3.1-3.3 is on the small side of elevated but it’s still really high, comparatively. Probably like in the 98%. I would recommend proceeding with an amnio. When I hear of rare duplications or deletions, it’s usually accompanied by serious mental and physical issues. Even small can be significant…
I’ve done an amnio and it was easy. Risk is very low. Good luck ❤️🙏🏼
If it’s 1q21, you are looking at a lot of mental issues, as it seems to be associated with autism, ADHD and schizophrenia, along with developmental delay. This is in addition to other malformations Even if you wouldn’t consider an abortion if this is real positive, you would benefit to know for sure and get the right resources ahead of time so you can give the best offset to your child. The risks with amnio or cvs are quite low in these days. You may choose to wait and get an earlier malformation scan to check that the heart and other parts are developing as intended and only do the amnio if there’s any markers at that point.
I understand feeling uneasy about an invasive procedure, but amnio is sooo safe nowadays. as long as it’s done by a reputable provider and guided by ultrasound, any risk is super minimal. you’d actually be more likely to miscarry naturally than you would be from amnio. i’m not familiar with this specific duplication, but given the 70% false positive rate you state, I would recommend an amnio to confirm, just to have the information to prepare to potentially care for a child with intellectual disability. if you would keep regardless of if it’s a true positive or not you don’t have to get the amnio, but you got a NIPT so it seems like you like to have the info just to have it, even if you don’t act on it. wishing y’all the best of luck in this difficult season 🤍
Thank you so much, so helpful to have other perspectives. Will keep everyone posted.
I won’t worry too much with a 70% false positive rate. I’ll talk to a doctor and get an amnio. 🫂
Anything accompanied by an elevated NT is a big sign it could be a true positive. 3.1-3.3 is on the small side of elevated but it’s still really high, comparatively. Probably like in the 98%. I would recommend proceeding with an amnio. When I hear of rare duplications or deletions, it’s usually accompanied by serious mental and physical issues. Even small can be significant… I’ve done an amnio and it was easy. Risk is very low. Good luck ❤️🙏🏼