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Clinical Utility of Prenatal Whole Exome Sequencing

NCT03482141 · Status: COMPLETED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 316

Last updated 2023-04-14

Study results available
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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.

Conditions

  • Structural Anomalies
  • Cardiac Anomalies
  • Central Nervous System Anomalies
  • Thorax Anomalies
  • Genito-urinary Anomalies
  • Gastrointestinal Anomalies
  • Skeletal Anomalies
  • Multiple Anomalies

Interventions

DEVICE

Whole Exome Sequencing (WES)

The Investigators will enroll pregnant women with fetal anomalies detected by ultrasound. Patients will be approached by a maternal-fetal specialist, who has counseled the patient regarding the fetal anomaly that has been detected. Written informed consent will be obtained by the study prenatal genetic counselor. Many patients will have undergone prenatal diagnostic testing in an outside laboratory; in such cases, cells or extracted DNA from the original fetal sample will be used for the purpose of this study. The consent process for prenatal WES will include pre-test counseling and the option of choosing whether or not to receive uncertain results and secondary findings. After conducting whole exome sequencing, the findings will be shared with the parent(s). Routine medical care will be provided to patients. The research will study the effectiveness of sequencing as a tool for providing genetic information to parents when a prenatal study reveals a fetus with a structural anomaly.

Sponsors & Collaborators

Principal Investigators

  • Mary Norton, MD · University of California, San Francisco

Study Design

Allocation
NA
Purpose
DIAGNOSTIC
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
18 Years
Max Age
64 Years
Sex
FEMALE
Healthy Volunteers
No

Timeline & Regulatory

Start
2017-08-01
Primary Completion
2022-05-13
Completion
2022-05-13
FDA Device
Yes

Countries

  • United States

Study Locations

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Entities

Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03482141 on ClinicalTrials.gov