Amniocentesis and gene deletion

I was just wondering if you got a amniocentesis when you were pregnant if williams syndrome or any in that nature would have come up...I had a very complicated pregnancy since my baby was so small, and they did a fish test and amnio but now she is considered short stature and very small but very healthy and hits all milestones on time.that pediatrician said something about a couple syndromes and i told him about the amnio. So i was wondering if it came back normal then could she still have a sydrome? Thank you

[martikadragoon]

Hi! With the amnio typically they'd look at the standard trisomes and as far as I know when it comes to any particular deletions/additions or mutations they have to test specifically for this. I have a rare genetic disorder it's a K10 mutation that results in a skin disorder called EHK. Ask the doctor about blood tests to diagnose any deletions.

[Dragon1973]

Hi there,
I just spoke to my genetics counsellor recently and I wanted to add that my standard amnio only covered specific Trisomy chromosomal abnormalities.  This leads me to believe that there are some chromosomal abnormalities that are not covered in a standard amniocentesis as Martikadragoon has said above, and if there was reason to suspect a different chromosomal problem, they might have retest for that specific type that they may not have tested for in the first place.  You need to check with your genetics department though, on which chromosomal abnormalities they tested for.  They can give you a detailed list, and also counsel you about what you are hearing about from your last set of tests.
In addition to anything I have mentioned, please keep in mind, that while I or others may have extensive knowledge in many areas, you should always seek professional medical advice from your own physician, as it pertains to medical conditions or concerns.
Good luck, and if you have any other questions that I can help you with, please feel free to message me directly.

Sincerely,
Sandi (Dragon1973)
MedHelp Down syndrome Community Leader
& Ds Group Forum Founder/Moderator