"DHREAMS" Congenital Diaphragmatic Hernia Study

Diaphragmatic Hernia Research & Exploration, Advancing Molecular Science (DHREAMS)

Protocol Description

The purpose of this multicenter study is to examine the DNA of children with congenital diaphragmatic hernia (CDH) and their parents to determine whether certain genes influence the likelihood of CDH. CDH is a birth defect in which the baby’s diaphragm fails to close completely during development, leaving an opening between the abdominal cavity and the chest cavity that allows abdominal organs to push up into the chest. The study also seeks to identify syndromes associated with newly discovered genetic changes in patients with CDH. This knowledge may ultimately lead to advances in the diagnosis, prognosis, prevention and treatment of patients born with this condition.

Eligibility Criteria

Newborns of both genders, who have been diagnosed with CDH and their biological parents are eligible.
Boys: Newborns
Girls: Newborns


Blood samples from both the child and parents will be collected for analysis. Additionally, 2 tiny tissue samples will be collected for genetic analysis at the time of the child’s corrective surgery. Clinical data about the child’s diagnosis will also be collected. Participants will undergo follow-up procedures scheduled as part of their standard care for CDH: echocardiogram at 1 and 3 months of age, developmental assessment at 2 years of age and a digital facial photograph to correlate genetic findings with clinical features.
Visits: None beyond standard care for CDH
Duration: 2 years

Status: Open for Enrollment

Source(s) of Support

National Institute of Child Health and Development

Primary Investigator

Douglas Potoka, MD

Contact Information

Laurie Luther, BSN, RN