Genetic Study of Congenital Diaphragmatic Hernia Resources

To learn more about genetics and related concepts, please visit the website for the Division of Genetics and Genomics at Boston Children’s Hospital.

What is the purpose of the CDH genetic research study?

The scientific goal of our study is to identify genetic variations that contribute to Congenital Diaphragmatic Hernia and abnormal lung development. Ultimately, we hope this knowledge will lead to a better understanding of the possible causes to CDH, which may lead to significant advances in the diagnosis, prognosis, prevention and treatment of the disease for future generations of babies born with CDH.

Our study is sponsored by the National Institutes of Health (NIH) and is a combined effort between Massachusetts General Hospital for Children and Boston Children’s Hospital.

Who is eligible to enroll?

If you reflect any one of these criteria, you are eligible to participate:

• Children and adults with CDH, as well as their parents and siblings.
• Individuals who are currently pregnant with a fetus (baby) who has been diagnosed with CDH prenatally AND/OR individuals who have been diagnosed postnatally.
• Families who have several family members with CDH (such as siblings, cousins, grandparents, parents, etc). These families are particularly informative because powerful genetic techniques can be used to detect missing or changed genes.
• Families where a child or family member passed away from CDH (if an autopsy was performed, or a blood or other tissue sample was saved).
• Families where a child or family member has a chromosome change or genetic syndrome associated with CDH.

The help of every single family plays an important role in our search for answers!

What is involved if my family participants in the study?

1. Consent forms
   • After study is explained to you and all of your questions are answered, you will be asked to sign a consent form to participate
2. Collection of biological samples
   • Since changes in genes are best detected by comparing samples between affected and unaffected family members, we will ask to obtain a biological sample (blood or saliva) from the individual(s) with CDH and unaffected family members (primarily the mother and father). If you do not live close to the Boston Children’s Hospital, a blood kit can be sent by mail and samples can be collected by your local care provider. The samples can then be shipped back to us in Boston with all shipping costs charged to our study.
   • In some cases, if a child with CDH is having surgery, we may ask for a tiny skin sample (about the size of the end of a match stick) instead of blood. This skin sample would be collected by the primary surgeon at the same site of incision during the child’s CDH repair. Thus, no new incisions or scarring will be made. The collection of these samples will not affect the outcome of the surgery or increase the risk of the surgery.
   • All samples and information collected for the study will be de-identified. In other words, all names, date of births, or other identifiers are removed from samples and instead each participant is randomly assigned a unique study number, which is used for labeling samples and paperwork. This number is always used instead of your name. Information and samples are stored in secure locations to which only members of our research team have access.
3. Physical exam by study medical geneticist
   • If the patient with CDH is seen at Boston Children’s or Massachusetts General Hospital, we may ask if you would allow our study medical geneticist, Dr. Frances High, to perform a brief physical exam on your family member with CDH (other unaffected family members or parents are permitted in the room during this exam)
4. Completion of medical and family history questionnaire
   • This is a brief (approximately 10 to 15 minute) questionnaire that contains questions regarding the mother’s prenatal history and child’s CDH history. This form will also ask about any other family history of CDH or other birth defects or significant diseases.
5. Completion of medical record release forms
   • We will ask you to give us permission to review medical/surgical records.

What are the benefits of participation in the study?

If we find information that may immediately affect the health of your child or your family and you agree to be contacted with this information, we will immediately report this information to your child’s physician who will be able to share this information directly to you.

Your family’s participation will help us to better understand CDH and how to better diagnose, treat, and prevent the condition. While many families may not immediately benefit from participation in the study, the information gained through the study over the years will be important for your family and other families affected by CDH in future generations.

There are no costs to participate in the study.

You do not have to travel to Boston to participate. If you do not live near Boston and are interested in participating, we can converse by phone or email. All study forms and blood kits can be mailed.

What are the risks of participation in the study?

Risks associated with a blood draw are minor discomfort and bruising. When possible, we will draw blood at the time of a clinically indicated procedure so that you may not need to have blood drawn only for research purposes.

If a skin biopsy is taken at the time of surgery, there is no additional risk involved other than the general risk particular to that surgery. The collection of the samples will NOT affect the outcome of the surgery or increase the risk of the surgery.

There is no risk to providing a saliva sample.

This study is not a clinical trial. Participants will not receive any medication or be part of any experimental procedures as part of this study.

Are there any costs?

There is no cost to you or your family.

If you choose to have your blood drawn by someone other than research staff, a pre-paid blood draw kit and shipping materials will be sent to you. If the person who draws your blood intends to bill you, please send a copy of the bill to the study coordinator and you will be reimbursed.

There is no monetary compensation for participation in the study.

Is our information private?

All information obtained through this study will remain strictly anonymous and confidential. Research findings will not be part of your medical records. Your family’s name will not be published.

Do I have to participate in the study?

No. Participation is voluntary. Your medical care will not be altered based on your family’s participation.

Can I withdraw from the study?

Yes. You may withdraw from the study at any time by contacting the research coordinator.