Status:
COMPLETED
Clinical Utility of Prenatal Whole Exome Sequencing
Lead Sponsor:
University of California, San Francisco
Conditions:
Structural Anomalies
Cardiac Anomalies
Eligibility:
FEMALE
18-64 years
Phase:
NA
Brief Summary
The investigator aims to examine the clinical utility of WES, including assessment of a variety of health-related and reproductive outcomes in undiagnosed prenatal cases.
Detailed Description
Next-generation sequencing (NGS) is changing the paradigm of clinical genetic testing. Unlike highly focused single-gene tests, NGS allows one to examine gene panels, the exome, and the whole genome. ...
Eligibility Criteria
Inclusion
- Women carrying a pregnancy with an ultrasound diagnosis of a major structural anomaly (or multiple anomalies) in a major organ system (cardiac, central nervous system, thorax, genito-urinary, gastrointestinal/ventral wall, skeletal and or multiple anomalies )
- Clinical concern for a potential underlying genetic condition
- Completed or plan to complete chorionic villus sampling or amniocentesis with chromosome analysis or microarray
- Available maternal sample
Exclusion
- Prior WES performed for a clinical or research indication
- Lack of phenotypic indication of a likely underlying genetic etiology
- Mother unwilling or unable to provide a specimen
Key Trial Info
Start Date :
August 1 2017
Trial Type :
INTERVENTIONAL
Allocation :
ACTUAL
End Date :
May 13 2022
Estimated Enrollment :
316 Patients enrolled
Trial Details
Trial ID
NCT03482141
Start Date
August 1 2017
End Date
May 13 2022
Last Update
April 14 2023
Active Locations (1)
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1
University of California San Francisco
San Francisco, California, United States, 94143