The scientific goal of the DHREAMS study is to develop a better understanding of the molecular genetic basis of CDH. Our study is designed to identify specific alterations in genes that contribute to CDH through genetic analysis of biological samples from children with CDH and their family members. We hope that the information gained through our study will lead to a better understanding of the cause of CDH which will in turn lead to significant advances in the diagnosis, prognosis, prevention, and treatment of this disease.
Children with a CDH.
Individuals who are currently pregnant with a fetus (baby) who has been diagnosed with a CDH.
Infants who have been recently diagnosed (either prenatally or postnatally) with CDH, who have not yet had surgery.
Individuals with a family history of a CDH.
After the study is explained to you and all of your questions are answered, you will be asked to sign a consent form to participate in the study.
We will ask to collect biological samples (blood or saliva) from study participants. If you do not live close to one of the sites enrolling individuals, a kit can be sent by mail to collect a blood or saliva sample. You DO NOT have to travel to be part of this study.
In some cases, if a child is having surgery we may ask for other types of biological samples including skin and diaphragm. The collection of these samples will not affect the outcome of the surgery or increase the risk of the surgery.
We will collect information about your family history and medical history through an interview and by review of medical records. This information can be collected by a phone conversation with the family.
If your child is enrolled before two years of age and you live close to one of the sites enrolling individuals, we will ask your child to return for a developmental assessment at two years of age. There is no cost for this evaluation.
During the time your family is in the study, study coordinators will be in contact with your family. You are free to call the study coordinators at any time with any questions or concerns that you may have.
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 family and to your child’s doctor.
If your child is enrolled before 2 year of age, he/she will receive a formal developmental assessment at 2 years of age.
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 is no cost to participation in the study.
You do not have to travel to NY or one of the other medical centers to participate in the study. If you do not live in the NY area, and you would like to participate in the study we can converse by phone and mail.
If we collect a sample of blood, there is a small risk of a bruise at the site of the needle puncture.
There is no risk to providing a saliva sample.
If other biological samples are taken during a surgery, the collection of the samples will not affect the outcome of the surgery or increase the risk of the surgery. Specifically, collection of diaphragm tissue will not affect the surgeon’s ability to repair the diaphragm and collection of skin tissue will not affect the surgeon’s ability to close the incision site.
Participation in this study will not affect your insurance coverage. This study does not involve clinical diagnostic genetic testing and therefore should not be reported as genetic testing on an insurance (medical or life insurance) application.
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.
There is no cost to you or your family.
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.
No. Participation is voluntary. Your medical care will not be altered based on your family’s participation.
Yes. You may withdrawal from the study at any time by contacting one of the research coordinators.
Contact Julia Wynn, research coordinator, at 212-305-6987 or firstname.lastname@example.org to learn more about the study or find out how to enroll.
Women who are currently pregnant with a baby affected with CDH can participate in DHREAMS. If you are not planning to deliver with one of the DHREAMS affiliated hospitals we can work with your family and health care team to enroll your family in DHREAMS. Please contact, Julia at email@example.com or (212) 305-6987 for more information.
Presently we are only able to enroll families in the DHREAMS study when we are able to obtain a biological sample from the affected child. If your child passed away, there may be a biological sample on your child if your child had an autopsy, if he/she had any type of surgery or if your family elected to store cord blood. Our research coordinator, Julia Wynn, can work with your family to determine if there is a biological sample. Please contact, Julia at firstname.lastname@example.org or (212) 305-6987 for more information .
Regardless of your decision to participate in the DHREAMS study, we encourage all families of children with a birth defect to save a blood or other biological sample from the child, especially if the child is critically ill. Even if a genetic cause cannot be detected by current testing methods, additional more sensitive genetic tests will become available in the future and the ability to go back and complete additional testing may provide your family with valuable information about the risk to have a child affected with the same condition or information as to how to prevent the birth defect in future children. If a sample is not saved, this testing will not be possible. There are several commercial laboratories that offer DNA banking for a small fee. We, Columbia University Medical Center and any other medical center represent on this site, are not affiliated with any of these labs.