Amniocentesis Affecting Fetus or Newborn, Family Members, Genetic Predisposition Suspected, Multiple Anomalies of Fetus
Conditions
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.
Interventions
None listed
Sponsors
Mayo Clinic
Study design
Observational model
COHORT
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
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).
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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 |
Outcome results
None listed