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.

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 woyciechowski@email.chop.edu.

Birth defects biorepository team

Additional information for investigators

Enrollment and sequencing

To date, we have enrolled over 1900 affected children, over 1370 complete trios, and have whole genome sequencing available on over 3100 subjects.

Specimens

The Birth Defects Biorepository houses a variety of biospecimens including blood, saliva, stool, placenta tissue, umbilical cord tissue, cardiac tissue, and thymus.

Presentations and publications

Rebecca Josowitz, MD and Stacy Woyciechowski, MS, LCGC were selected as the 2024-2025 Emerging Innovators in Collaborative Science by the Office of Academic Training and Outreach Programs (ATOP). This group recognizes exceptional non-faculty researchers-in-training and research staff who have contributed significantly to a collaborative project, producing high impact research at Children's Hospital of Philadelphia. The 6th Annual Emerging Innovators series will include three sessions featuring two speakers per session, with sessions held January through May.

They presented the Birth Defects Biorepository and Dr. Josowitz’s research utilizing this resource on March 19, 2025. If you missed the presentation, you can view the recording here: Emerging Innovators Talk.

Development and Validation of a Scalable Multidimensional Organ Recovery-based Framework to Understand Pediatric Cardiac Surgical Outcomes: Hematologic Criteria; Abstract presented by J. “Nick” Pretap, MD at the Society of Technology in Anesthesia; November 2023
Data Acquisition: Challenges and Opportunities from the Frontline in Development of a Birth Defects Registry and Biorepository; presented by Stacy Woyciechowski, MS, LCGC at Cardiology 2024 – the 27th Annual Update on Pediatric and Congenital Cardiovascular Disease; February 2024
L1 Retrotransposon Impact on Somatic Mosaicism and Neural Tube Defects; M. Elizabeth Ross, MD – the 13th International Conference on Neural Tube Defects; August 2024
Evidence for Pathogenic Expansion in NTD Case-Parent Trios; M. Elizabeth Ross, MD – the 13th International Conference on Neural Tube Defects; August 2024
Fetuses with congenital heart disease and placental malperfusion have adverse outcomes and de novo variants in key placental developmental pathways; Abstract presented by Rebecca Josowitz, MD – Accepted for presentation at the 2024 Scientific Sessions of the American Heart Association; November 2024
The Essential Value of a Birth Defects Biorepository; J William Gaynor, MD – Cardiology 2025; February 2025
Reanalysis of pediatric exome and genome sequencing identifies a high prevalence of actionable pharmacogenetic alleles in children; A. Gacita, MD, PhD – the American College of Medical Genetics Annual Clinical Genetics Meeting; March 2025
Trio whole genome sequencing identifies putative rare pathogenic noncoding variants in babies with congenital anomalies; A. Gacita, MD, PhD – the American College of Medical Genetics Annual Clinical Genetics Meeting; March 2025
The Birth Defects Biorepository at CHOP; J William Gaynor, MD and Stacy Woyciechowski, MS, LCGC - Genetics Grand Rounds; March 25, 2025

Funded grants

The BDB data supports the following awards:

The W.W. Smith Charitable Trust; Pro-angiogenic variants in CHD placental pathology and outcomes; awardee: Marin Jacobwitz, CRNP
Cardiac Center Research Grant FY 2022-2023; Development and Validation of a Scalable Multidimensional Organ Recovery-Based Framework to Understand Pediatric Cardiac Surgical Outcomes; awardee: J. “Nick” Pratap, MD
Big Hearts to Little Hearts; The Quest for Precision Medicine in Hypoplastic Left Heart Syndrome; J William Gaynor, MD
Cardiac Innovations Grant; Implementation of the Cardiac Center Biorepository: Across the Lifespan of Children with Heart Disease: Laura Mercer-Rosa, MD, MSCE
Cardiac Innovations Grant; Advanced Cardiac Therapies ICU Respiratory for Heart Failure Phenotyping: Monique Gardner, MD
Frontier Program Seed Funding; EAT@CHOP: Nancy Spinner, PhD, FACMG, Amanda Muir, MD, Ian Krantz, MD, J William Gaynor, MD, Taylor Wild, MD
Cardiac Innovations Grant; Fecal Volatile Organic Compounds and Necrotizing Enterocolitis in the CICU: J William Gaynor, MD and Audrey John, MD
Cardiac Innovations Grant; Transcriptomic Analysis of Placental Malperfusion in Single Ventricle Congenital Heart Disease: Rebecca Josowitz, MD and J William Gaynor, MD
Maximizing Investigators' Research Award (MIRA); Locking and Unlocking Cardiac Maturation: Daniel P. Kelly, MD

Proposal process

To submit a data/specimen request to the Birth Defects Biorepository, please complete the proposal form and email it to woyciechowski@chop.edu. After initial review for completeness, the project will undergo review by the Scientific Review Committee for approval.