Advanced Fetal Care Center (AFCC)
Genetic Study on Congenital Diaphragmatic Hernia (CDH)
Principal Investigators Dr. Jay Wilson and Dr. Barbara Pober are interested in trying to uncover the genetic causes of congenital diaphragmatic hernia (CDH). Through this study they hope to improve the outcomes for the next generations of persons born with CDH.
In order to participate, you will need to:
- fill out a questionnaire about your medical and family history.
- give us permission to review medical records about your prenatal history.
- if you/your family member with CDH is a patient at Boston Children's Hospital, allow us to perform a brief physical exam.
- allow us to collect samples from the person with CDH to test for changes in genes associated with poor lung development and CDH. Samples to be collected could include: blood, or a small skin sample (about the size of the end of a match stick) taken at the time of surgery, and a urine sample.
- allow us to collect a blood sample for genetic analyses from both parents of the individual with CDH, as well as possibly from his/her siblings (since changes in genes are best detected by comparing samples between family members).
- offer approximately one hour of your time: collection of blood or tissue samples and physical exam of your baby will be taken after your baby is born.
There is no cost to you (or your insurance company) to participate.
There is no direct/immediate benefit to you from participating in this study; however, we hope that our findings may benefit others with CDH in the future.
For more information about our CDH Study, please contact one of the following staff members:
Related research and news from Children's
The archive of the Congenital Diaphragmatic Hernia Study Newsletter (or CDH News) is a tremendous resource for families interested in the study's progress and discoveries. Click here to download issues dating back to 2006.
- Kantarci S, Ackerman KG, Russell MK, Longoni M, Sougnez C, Noonan KM, Hatchwell E, Zhang X, Pieretti Vanmarcke R, Anyane-Yeboa K, Dickman P, Wilson J, Donahoe PK, Pober BR. Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH. Am J Med Genet A. 2010 Oct; 152A(10): 2493-504. PMID: 20799323 [PubMed - indexed for MEDLINE]
- Pober BR. Genetic aspects of human congenital diaphragmatic hernia. Clin Genet. 2008 Jul; 74(1): 1-15. Epub 2008 May 28. Review. PMID: 18510546 [PubMed - indexed for MEDLINE]
- Kantarci S, Al-Gazali L, Hill RS, Donnai D, Black GC, Bieth E, Chassaing N, Lacombe D, Devriendt K, Teebi A, Loscertales M, Robson C, Liu T, MacLaughlin DT, Noonan KM, Russell MK, Walsh CA, Donahoe PK, Pober BR. Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. Nat Genet. 2007 Aug; 39(8): 957-9. Epub 2007 Jul 15. PMID: 17632512 [PubMed - indexed for MEDLINE]