Genetic Study of Congenital Diaphragmatic Hernia

For more than a decade, a dedicated team of researchers and clinicians from Boston Children’s Hospital and Massachusetts General Hospital for Children has worked together to better understand the genetics of congenital diaphragmatic hernia (CDH) and associated disorders. This Boston-based study hopes to identify the genetic variations that cause these conditions. Ultimately, we hope this knowledge will lead to improved outcomes for future generations of babies born with congenital diaphragmatic hernia.

What does participation in this Congenital Diaphragmatic Hernia study involve?

To participate, you will need to fill out a questionnaire and give us permission to review your child’s medical records. We would be happy to review the study during our prenatal counseling in the Advanced Fetal Care Center, or after the baby is born. If you live in the Boston area, we will ask to perform a brief physical examination of the family member or members with CDH. If you live outside the Boston area, we will ask permission to view their most recent genetic and physical examination records.

Since changes in genes are best detected by comparing samples between affected and unaffected family members, we will ask to obtain both a sample from those with CDH and those without it. Depending on the age, weight and health status of each person, different samples can be obtained, including blood, saliva, a tiny skin sample from surgery or a pathology specimen. If coming to Boston is inconvenient, your local caregiver can collect the samples and send them to us for analysis. We will work with you and your doctor to coordinate this process.

Participation in our study only takes about one hour of your time. There are no costs to you or your insurance company for genetic analyses performed in this study or for sample collection, medical record retrieval or shipment of these. This study does not involve payment or compensation for you or your family. Learn more on our Resources page.