Syndromes

I was wondering if I had an amniocentesis if it would show all syndromes like williams syndrome or if those are more in depth and would not show...I had an amnio and it was all normal but i am having something pop up which could be genetic but just wondering since i had an amnio if i dont need to be concerned..thank you

[Yao Sun, MD, PhD]

A normal amniocentesis is reassuring, but it does not uncover all genetic syndromes.  The amniocentesis allows a "karyotype" test to be performed, which looks at the number and general configuration of the chromosomes (the "packaging" of all our genetic material, similar to a volume in an encyclopedia).  It does not, however, test for problems at the gene level (similar to a topic within an encyclopedia).  Also, there are "genetic" syndromes that result from modifications that are made to the genes that do not actually affect the genetic DNA sequence.

If you have a concern about a particular genetic syndrome, you should discuss this with your doctor.  There are sometimes more specific genetic tests that can be performed if the risk for a particular syndrome is known beforehand.