CHERUBS Medical Expert Series: CDH & Genetics (Nov 4-11, 2013)

[BRoper]

Hi Julia,

Our daughter passed away 4 months ago from CDH along with several VSD's and an interrupted aortic arch. We were pregnant with twins and lost one twin very early on. We are also part of your study and have several questions. First of all if you do find any genetic cause during the study how long does it usually take to get the results? Is CDH more common in twins? I know the risk of having another child with CDH is about 2% but does the risk increase if there was a heart defect as well? Thank you for taking the time to answer our questions. And thank you for trying to find a cause to this devastating birth defect.

Brooke

[JuliaWynnMS]

Brooke,

Thank you for your patience with the study. I know that so many people have participated in the study buy they have not yet received test results. We are working very hard on all of the samples to try to identify the genetic cause of the CDH. We have learned that the genetic causes of CDH are very complex and not always easy to identify. We know of over 100 different genetic causes!

We contact all families if and when we identify a genetic cause but we are not able to contact families each time we complete a genetic test on a sample. I encourage everyone to contact me by email jw2500@columbia.edu or by phone 212 305 6987 to ask specific questions about their family. I can tell you what analyses have been done and what this means about the risk that the CDH is genetic in the family.

I sent you a private email in response to the connective tissue disorder question. There are many different types of connective tissue disorders and only a few have been associated with CDH.

Best,
Julia