Birth Defects Biorepository

Major structural birth defects occur in approximately 1 in 30 live births. Birth defects have an enormous impact on the lives of these children, their parents and families.

Research to determine the cause of birth defects and how treatment can impact the long-term outcome for those affected is essential to develop prevention and improved treatment strategies. However, large study populations with genetic data, detailed clinical history and long term follow-up are lacking.

Seeking to address these challenges, a birth defects biorepository was established by the Center for Fetal Diagnosis and Treatment and the Department of Surgery in collaboration with families at the Children's Hospital of Philadelphia (CHOP).

What is a biorepository?

  • A centralized place to collect and store biological samples from mothers, fathers, babies, children, and other family members to be used in future research studies.
  • An automated way to obtain a complete dataset of de-identified clinical and research data linked to each sample. This dataset will be obtained by direct participant interview, chart review and analysis of samples.

The Center for Fetal Diagnosis and Treatment (CFDT) at CHOP was established in 1995 and has experience diagnosing and treating the most complex birth defects. Since its inception, the CFDT has cared for more than 25,000 expectant mothers from all 50 states and over 60 countries. Approximately one third of women seeking evaluation of their pregnancy diagnosed with a birth defect through the CFDT are offered the opportunity to deliver their baby at CHOP. Each year, 450-500 babies with prenatally diagnosed birth defects are born on the Garbose Family Special Delivery Unit (SDU) at CHOP, providing a unique resource and allowing for enrollment of a large population of infants with birth defects.

Inclusion criteria

Biological mothers and gestational carriers of a fetus with a birth defect, babies/children with a birth defect, or other biological relatives of a fetus or child participating in the study

Exclusion criteria

Adoptive parent (other than a gestational carrier) or non-biologically related sibling

Study design/schedule

  • Transfer of Care Visit: Evaluate eligibility for the study and provide information to decide if you want to participate in the study.
  • Any time after consent: Collect basic enrollment information. Obtain blood or saliva sample from mother, father, and other relatives.
  • At delivery: Obtain cord blood and placenta sample.

If you are interested in participating, we are happy to provide additional information or answer questions you may have. Please call 267-815-0116 or e-mail Stacy Woyciechowski, Project Manager, at

Birth defects biorepository team

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Tour our Fetal Center

Watch this video tour to learn what to expect at your first visit to the Wood Center for Fetal Diagnosis and Treatment.

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From the moment of referral through delivery and postnatal care, your family can expect a supportive experience when you come to us with a diagnosis of a birth defect.

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