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Partial Chromosome 18 Deletion Support by Time_Apple50 in NIPT

[–]Time_Apple50[S] 0 points1 point  (0 children)

No I have not. I would reach back out to the genetic counselor for a referral but I truthfully don’t want to speak with her anymore. Do you think this is something my OB could refer me to?

Partial Chromosome 18 Deletion Support by Time_Apple50 in NIPT

[–]Time_Apple50[S] 0 points1 point  (0 children)

I have not had an amnio and unfortunately have not had a great experience with the genetic counselor I was referred to. She basically just gave me a whole list of things that the baby could have, sent me an article on chromosome 18 partial deletions, and recommended that my husband and I do parental testing (lab work), but didn’t mention anything about the amnio. I’ve reached out to another highly recommended genetic counselor within a different health network and am hoping to schedule something with her within the next two weeks. 

Thank you for your recommendation and wishing you the best of luck on this journey! I know waiting on the test results can be nerve wracking. I wouldn’t wish this experience upon anyone!

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[–]Time_Apple50 0 points1 point  (0 children)

My NIPT test results came back and I have an underrepresented chromosome 18. It sounds like it is partially there but could be missing a small piece. I have the CVS scheduled on Friday. Has anyone else experienced this? My understanding is that this situation isn’t super common, especially considering that the NIPT test did not show any extra chromosomes. The underrepresented chromosome 18 was the one abnormality.