Microdeletions

Eeyore04

hey everyone. So I've had the panel screening test done twice. Both times, majority of the tests came up low risk which is great, but the microdeletions section is not coming up with a negative or positive. They cannot seem to get result. They want to do an amniocentesis. Just curios if anyone else has had this happen. Kind of freaking out

dogsombrero

I don't have any experience with this but I just wanted to pop in and say I hope all is well with your baby. What test did you have and what are the concerns of microdeletions? Did your Dr explain what they are concerned about when recommending the amnio?

Ceridwen77

Interested in hearing your responses to the questions from @dogsombrero

Wishing you good luck. Maybe try the High Risk board as maybe others there have had this experience?

Eeyore04

Thank you for your concern. I have not met with the dr yet. I have an appointment on Friday. I actually know nothing about microdeletions, except for what I have read. This was the panaroma testing, and they're not saying positive or negative, just that they cannot determine a result for some reason.

thefithuntress

Hey, mama!

If it makes you feel better micro deletions are super common. My nurse told me some people have 5-6! I'm a carrier for one so my husband just got blood work done. If he's a carrier of the same one then there's a 25% chance our baby will be born with a disorder. It makes me a little nervous but the odds of my baby being genetically healthy are good. Best of luck to you!

Eeyore04

That makes me feel a little better. I'm a nervous nelly as this is my first. And I don't have answers which is frustrating. I appreciate your feedback! Good luck to you as well!!!!

dogsombrero

OP based on your response I'd ask your doctor what the harm in the microdeletions could be versus the risk of the amnio. I'd also ask if a disorder due to a microdeletion could be "life threatening" and/or detected at the anatomy scan. Then you can make an informed decision on whether or not you want to proceed. Please keep us updated!

jscasher

I am looking at the possibility of my baby having a microdeletion of the 22nd chromosome. It's called 22q11.2, or more simply Di'George syndrome.

Some people can go their whole lives without ever knowing they have a microdeletion. Others, it causes severe physical or mental problems. If this microdeletion doesn't affect my baby's heart, it may affect his learning abilities or even be a source of autism or ADHD.

My risk came back 1 in 19, or a 5 percent chance. As scary as it is, the odds look really good he's fine, and an amnio would only confirm or deny the disease, not the severity of it. Again, any of us could have a microdeletion and not even know it and be fine, so that's why my husband and I chose to just let our little guy grow and deal with whatever happens after birth.

I hope that helps! I was really upset in the beginning, but there's a 95 percent chance our baby is fine and if he's not we will do whatever we have to do to give him the best quality of life possible. Wishing you luck!

mamavbs

@jscasher your outlook on the situation is really amazing. Not meaning to sound condescending at all! I think your decision is sensible and brave and you're little man is lucky to have such supportive parents already! I hope he will be absolutely fine :-)

jscasher

mamavbs said:

@jscasher your outlook on the situation is really amazing. Not meaning to sound condescending at all! I think your decision is sensible and brave and you're little man is lucky to have such supportive parents already! I hope he will be absolutely fine :-)

You made me teary eyed!! Thank you!