Development of an Optimal Approach to Return of Results for Next-generation Sequencing for Prenatal Diagnosis

June 4, 2019 updated by: Louise Laurent, MD/PhD, University of California, San Diego

Development of an Optimal Approach to Return of Results for Families Undergoing Next-generation Sequencing for Prenatal Diagnosis.

To gain knowledge about how patients undergoing prenatal diagnosis for a fetal abnormality understand and react to Whole Genome Sequencing (WGS) testing, so that the investigators can develop more ethical and responsible approach to patient education, counseling, and return of results for patients.

Study Overview

Status

Status

Indicates the current recruitment status or the expanded access status.
Withdrawn

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.

Detailed Description

Although whole exome sequencing (WES) was first used for identification of the genetic cause of a disease only in 2009 and whole genome sequencing (WGS) in 2010, and questions remain about their performance as clinical tests, they are already being offered to patients and doctors as a clinical test by several laboratories certified by the US government (14 labs for WES and 5 labs for WGS). The results from WES and WGS can be complex and confusing, even for doctors and scientists who work with this technology on a daily basis; for patients, the process of deciding whether to have WES or WGS testing, undergoing the testing, receiving the results, and trying to use the results for further decision-making could be quite stressful. Currently, this process occurs in an unstandardized fashion, with some patients receiving extensive education and counseling, and others receiving almost none. There is a critical need to identify patient needs and desires in this area, and to develop strategies to satisfy them. The primary goal of this project is to gain knowledge about how patients undergoing prenatal diagnosis for a fetal abnormality understand and react to WGS testing, so that we can develop a more ethical and responsible approach to patient education, counseling, and return of results for patients . In order to do this, we need to evaluate parents' understanding of the utility and limitations of the technology, parents' preferences regarding the types of results they want to receive, and the psychological impact of receiving results from this technology. We will enroll 30 families consisting of a woman carrying a fetus with a major abnormality identified by ultrasound, and the father of the fetus, who have opted for amniocentesis for standard prenatal diagnostic testing (karyotyping, fluorescence in situ hybridization (FISH) and/or microarray testing). Half of the families will serve as controls, who will only have standard prenatal diagnostic testing. For the other half of the families, WGS will be performed in addition to standard diagnostic testing. For all 30 cases, we will perform psychosocial evaluations (including assessments of the subjects' mood, understanding of the technology and preferences for return of results) at the time of enrollment, at the time of return of CLIA-certified genetic testing results (karyotype, FISH, microarray, and/or WGS), and after completion of the pregnancy. In this way, we will learn whether participants are receiving adequate education about next-generation sequencing to make informed choices, what the range of preferences are for return of results in a prenatal population (and whether this changes when new methods for prenatal diagnosis are employed), and whether the use of WGS imposes additional psychological stress compared to standard prenatal diagnostic tests. This study will be carried out in a stepwise and carefully monitored environment, with progress overseen by an Independent Data Monitoring Committee in order to maximize the knowledge gained while minimizing potential harms.

Study Type

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Interventional

Phase

Phase

The stage of a clinical trial studying a drug or biological product, based on definitions developed by the U.S. Food and Drug Administration (FDA). The phase is based on the study's objective, the number of participants, and other characteristics. There are five phases: Early Phase 1 (formerly listed as Phase 0), Phase 1, Phase 2, Phase 3, and Phase 4. Not Applicable is used to describe trials without FDA-defined phases, including trials of devices or behavioral interventions.
  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • California
      • San Diego, California, United States, 92121
        • UCSD Health Sciences, Fetal Care and Genetics

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

Ages Eligible for Study

18 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

Inclusion Criteria:

  • Subject(s) 18 years or older (both mom and father of baby (FOB)
  • Subject is undergoing prenatal testing for a major fetal anomaly

Exclusion Criteria:

  • Mothers or fathers of the affected fetus are under the age of 18 years

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Other
  • Allocation: Non-Randomized
  • Interventional Model: Parallel Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm

Participant Group / Arm

A group or subgroup of participants in a clinical trial that receives a specific intervention/treatment, or no intervention, according to the trial's protocol.
Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.
Active Comparator: Control Group
Amniocentesis will be performed, Whole Genome Sequencing will not be performed, and psychosocial assessment will be performed.
Procedure: Amniocentesis
Note: this is being performed on all subjects as a clinical (not research) procedure
Other: Psychosocial assessment
Use of EPDS and STAI for assessment of maternal and paternal mood
Experimental: Intervention Group
Amniocentesis will be performed, Whole Genome Sequencing will be performed if the karyotype is normal, and psychosocial assessment will be performed.
Procedure: Amniocentesis
Note: this is being performed on all subjects as a clinical (not research) procedure
Other: Psychosocial assessment
Use of EPDS and STAI for assessment of maternal and paternal mood
Genetic: Whole Genome Sequencing
Whole genome sequencing in a CLIA lab and return of results.

What is the study measuring?

Primary Outcome Measures

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
Outcome Measure
Measure Description
Time Frame
Change in maternal mood (focused on assessment of depression)
Time Frame: At enrollment and 3 months after completion of pregnancy (expected to be 8 months after enrollment)
Compare mood measured by EPDS between enrollment and 3 months after completion of pregnancy
At enrollment and 3 months after completion of pregnancy (expected to be 8 months after enrollment)
Change in paternal mood (focused on assessment of depression)
Time Frame: At enrollment and 3 months after completion of pregnancy (expected to be 8 months after enrollment)
Compare mood measured by EPDS between enrollment and 3 months after completion of pregnancy
At enrollment and 3 months after completion of pregnancy (expected to be 8 months after enrollment)

Secondary Outcome Measures

Secondary Outcome Measures

In a clinical study's protocol, a planned outcome measure that is not as important as the primary outcome measure for evaluating the effect of an intervention but is still of interest. Most clinical studies have more than one secondary outcome measure.
Outcome Measure
Measure Description
Time Frame
Change in maternal mood (focused on assessment of anxiety)
Time Frame: At enrollment and 3 months after completion of pregnancy (expected to be 8 months after enrollment)
Compare anxiety measured by STAI between enrollment and 3 months after completion of pregnancy
At enrollment and 3 months after completion of pregnancy (expected to be 8 months after enrollment)
Change in paternal mood (focused on assessment of anxiety)
Time Frame: At enrollment and 3 months after completion of pregnancy (expected to be 8 months after enrollment)
Compare anxiety measured by STAI between enrollment and 3 months after completion of pregnancy
At enrollment and 3 months after completion of pregnancy (expected to be 8 months after enrollment)

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
University of California, San Diego

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
October 1, 2014

Primary Completion (Actual)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
June 4, 2019

Study Completion (Actual)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
June 4, 2019

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
September 24, 2014

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
September 30, 2014

First Posted (Estimate)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
October 3, 2014

Study Record Updates

Last Update Posted (Actual)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
June 6, 2019

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
June 4, 2019

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
June 1, 2019

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant numbers.
  • 140456

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Cookie Settings

We use cookies to ensure that we give you the best experience on our website. For more details carefully read our Privacy and Cookies Policy. ...>>>You can change your preferences or withdraw your consent at any time by deleting the cookies from your website or computer as described in the policy. Please accept it and choose your preferences by ticking the corresponding boxes in the "Manage Settings" section below. Please carefully read our Terms of Service before you proceed with using any part of this website.
«Manage Settings