Thursday, July 16, 2009

Last of the genetic testing is in...

On Monday my husband and I got the last results from our genetic testing...the Beckwith-Weidemann syndrome. They all came back negative!! Our genetic counselor was instructed to only call my husband because I didn't want to be the one who has to always receive the news, but she was so excited she called my husband and me right afterwards to tell us! I feel like we have jumped another hurdle!


  1. Hi,just stumbled along your blog as well & just going thru it now. I'm 22wks with a baby that has an omphalocele & have had the amnio for testing for the 3 syndromes. Was this (WBS) seperate from the 3 chromosomal testing? I'm a bit concerned as the scans i've had have suggested my baby is a wk or so older than it actually is. Thanks for any info. Jacinta

    1. Jacinta,
      The BWS testing was done separately then the regular chromosome testing from the amnio. My genetic counselor gave me a bunch of codes to relay to my insurance company to see if they would pay for the BWS testing, luckily they did would pay and so we had it done. Our samples got tested in Sweden I to your genetic counselor.