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Jess,
Congratulations on your baby girl. I hope she is doing well.
You are correct that Right is less common than Left. We are not exactly sure why that is but we think it has to do with how the...

Mandy,

I think I missed your question last week. I'm sorry for my late reply.

We have seen a region of chromosome 17 called 17q12 deleted (missing) in children with CDH. We have not seen this...

Courtney,

Thank you for your interest in our study. We enrolled individuals of all ages with a CDH.
The testing that can be done on an amniocentesis has changed quiet a bit in 23 years and I...

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...

Neil,

We cannot know the exact recurrence risk until we understand the specific genetic cause in your family. I have listed the two possible ways the CDH could have been inherited in your family....

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...

Lizz,

Thank you for your interesting question. Typically the things that cause a CDH in a neonate are different than the things that cause a CDH in an adult. Sometimes adults can have a CDH if...

Casey,


I'm sorry to hear about your husband I hope he is doing well. We think that genetic risk is independent. We do not think that having a child with a CDH increases a person risk for other...

Casey,

Thank you for your question. I'm sorry to hear about your husband and hope he is well now.

For the most part we think that genetic risk for conditions is independent. We don't think...

Tracy,

Congratulations on your little boy.

You have a very thoughtful question about CDH and genetic causes.

There are several different ways that we think a genetic mutation occurs or is...

Shelly,

You are not going out on a limb you are thinking like a scientist! We do think that while there are a lot of genes that are involved in the development of the CDH many of these genes are...

There are several different regions on chromosome 17 where we have seen extra or missing pieces in children with CDH. We are not yet sure what specific genes on chromosome 17 are the critical regions...

Sandi,

You pose some very interesting questions and I will do my best to answer them in text form
1) Genes associated with CDH - We and other studies have identified over 20 genes that are...