NCT05834621

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.

Trial Health

15
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Timeline
Completed

Started Jan 2025

Status
withdrawn

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

April 4, 2023

Completed
24 days until next milestone

First Posted

Study publicly available on registry

April 28, 2023

Completed
1.7 years until next milestone

Study Start

First participant enrolled

January 7, 2025

Completed
Same day until next milestone

Primary Completion

Last participant's last visit for primary outcome

January 7, 2025

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

January 7, 2025

Completed
Last Updated

September 5, 2025

Status Verified

August 1, 2025

Enrollment Period

Same day

First QC Date

April 4, 2023

Last Update Submit

August 28, 2025

Conditions

Multiple Anomalies of FetusGenetic Predisposition SuspectedAmniocentesis Affecting Fetus or NewbornFamily Members

Outcome Measures

Primary Outcomes (3)

  • 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.

    5 years

  • Enrollment of study participants

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

    5 years

  • Collection of Biospecimens

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

    5 years

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Participants will be identified internally through provider referrals most commonly through the Mayo Clinic Obstetrical and Maternal Fetal Medicine services.

You may qualify if:

  • Fetus with multiple anomalies/suspected genetic disease.
  • Pregnant patient already planning on having an amniocentesis for another reason separate from this study.

You may not qualify if:

  • Parents under the age of 18.
  • Parents lacking the capacity to consent.
  • Institutionalized (i.e., Federal Medical Prison).

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Related Links

Study Officials

  • Myra Wick, MD, PhD

    Mayo Clinic

    PRINCIPAL INVESTIGATOR
0

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
CROSS SECTIONAL
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Principal Investigator

Study Record Dates

First Submitted

April 4, 2023

First Posted

April 28, 2023

Study Start

January 7, 2025

Primary Completion

January 7, 2025

Study Completion

January 7, 2025

Last Updated

September 5, 2025

Record last verified: 2025-08

Data Sharing

IPD Sharing
Will not share