AMNIOmics: A Prenatal Rapid Genome Validation Study
Study Details
Study Description
Brief Summary
The purpose of this study is to validate Whole Genome Sequencing (WGS) on amniotic fluid to reduce the time to diagnosis and enhance the care for the fetus/neonate.
Condition or Disease | Intervention/Treatment | Phase |
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Study Design
Outcome Measures
Primary Outcome Measures
- Validation of Rapid Whole Genome Sequencing technology on amniotic fluid samples [5 years]
Collection of both amniotic fluid and blood samples to compare results of whole genome sequencing for a fetus with suspected genetic disease.
- Enrollment of study participants [5 years]
To recruit up to 90 total participants including child and both parents
- Collection of Biospecimens [5 years]
Total number of biospecimens collected which may include both blood samples and amniotic fluid
Eligibility Criteria
Criteria
Inclusion Criteria
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Fetus with multiple anomalies/suspected genetic disease.
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Pregnant patient already planning on having an amniocentesis for another reason separate from this study.
Exclusion Criteria
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Parents under the age of 18.
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Parents lacking the capacity to consent.
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Institutionalized (i.e., Federal Medical Prison).
Contacts and Locations
Locations
Site | City | State | Country | Postal Code | |
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1 | Mayo Clinic Minnesota | Rochester | Minnesota | United States | 55905 |
Sponsors and Collaborators
- Mayo Clinic
Investigators
- Principal Investigator: Myra Wick, MD, PhD, Mayo Clinic
Study Documents (Full-Text)
None provided.More Information
Additional Information:
Publications
None provided.- 22-002719