Amanda,

I hope your daughter is doing well now. The amniocentesis you had during your pregnancy with Liz would have detected large genetic mistakes in the chromosomes - having an entire extra or missing chromosome- but there are smaller genetic mistakes that we are now able to detect that would not have been detected on the chromosome analysis. You can have you daughter evaluated by a geneticists who can explain the more expanded testing available. Approximately 15-20% of children with a CDH have a genetic cause that can be detected by available testing. Most of these children have second birth defect. We think that many other children have a genetic cause but it is too small to be detected by current available analysis. We are looking for these smaller genetic changes in our research study. I can discuss this more with you by phone if you are interested. 212 305 6987 or if you would like me to help you find a geneticist in your area.
Best,
Julia