AMNIOmics: A Prenatal Rapid Genome Validation Study

Mayo Clinic

Overview

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.

Study Type

OBSERVATIONAL

Conditions

Multiple Anomalies of Fetus Genetic Predisposition Suspected Amniocentesis Affecting Fetus or Newborn Family Members

Eligibility

Sex: ALL

Medical Language ↔ Plain English

Inclusion Criteria * Fetus with multiple anomalies/suspected genetic disease. * Pregnant patient already planning on having an amniocentesis for another reason separate from this study. Exclusion Criteria * Parents under the age of 18. * Parents lacking the capacity to consent. * Institutionalized (i.e., Federal Medical Prison).

Outcomes

Primary Outcomes

Validation of Rapid Whole Genome Sequencing technology on amniotic fluid samples

Collection of both amniotic fluid and blood samples to compare results of whole genome sequencing for a fetus with suspected genetic disease.

Time frame: 5 years

Enrollment of study participants

To recruit up to 90 total participants including child and both parents

Time frame: 5 years

Collection of Biospecimens

Total number of biospecimens collected which may include both blood samples and amniotic fluid

Time frame: 5 years

Data from ClinicalTrials.gov

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