- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT02255825
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
Withdrawn
Conditions
Intervention / Treatment
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
Interventional
Phase
- 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
-
-
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
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 |
Intervention / Treatment |
---|---|
Active Comparator: Control Group
Amniocentesis will be performed, Whole Genome Sequencing will not be performed, and psychosocial assessment will be performed.
|
Note: this is being performed on all subjects as a clinical (not research) procedure
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.
|
Note: this is being performed on all subjects as a clinical (not research) procedure
Use of EPDS and STAI for assessment of maternal and paternal mood
Whole genome sequencing in a CLIA lab and return of results.
|
What is the study measuring?
Primary Outcome Measures
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
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.
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
October 1, 2014
Primary Completion (Actual)
June 4, 2019
Study Completion (Actual)
June 4, 2019
Study Registration Dates
First Submitted
September 24, 2014
First Submitted That Met QC Criteria
September 30, 2014
First Posted (Estimate)
October 3, 2014
Study Record Updates
Last Update Posted (Actual)
June 6, 2019
Last Update Submitted That Met QC Criteria
June 4, 2019
Last Verified
June 1, 2019
More Information
Terms related to this study
Additional Relevant MeSH Terms
Other Study ID 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.
Clinical Trials on Major Fetal Anomaly
-
Sohag UniversityNot yet recruiting
-
Samuel Lunenfeld Research Institute, Mount Sinai...WithdrawnPsychological Sequelae of Termination of Pregnancy for Fetal AnomalyCanada
-
Theoreo SrlMassachusetts General Hospital; Auckland UniServices Ltd.Completed
-
Sheba Medical CenterUnknown
-
Assiut UniversityMiddle-East Obstetrics and Gynecology Graduate Education (MOGGE) FoundationNot yet recruiting
-
Fondazione Policlinico Universitario Agostino Gemelli...Azienda Ospedaliero-Universitaria di Parma; Ministero della Salute, Italy; Ospedale...RecruitingBrain Malformation | Fetal AnomalyItaly
-
Beni-Suef UniversityCompleted
-
Mahidol UniversityUnknownFirst Trimester PregnancyThailand
-
China Medical University HospitalUnknownTermination of Pregnancy
Clinical Trials on Amniocentesis
-
Universitaire Ziekenhuizen KU LeuvenUniversity of MelbourneUnknownCytomegalovirus Infections | Neurologic Dysfunction
-
Chelsea and Westminster NHS Foundation TrustNot yet recruitingThreatened Preterm Labor | Preterm Rupture of Membranes
-
Ufuk UniversityNot yet recruitingPregnancy Complications | Pregnancy Loss | Pregnancy Preterm
-
Eunice Kennedy Shriver National Institute of Child...Completed
-
Rambam Health Care CampusUnknownDetecting Abnormal Fetal Karyotype by the Electronic Nose
-
Ohio State UniversityCompletedInflammation | Chorioamnionitis | Infection | Preterm Premature Rupture of the Membranes | Labor, PrematureUnited States
-
Cengiz Gokcek Women's and Children's HospitalThe Scientific Research Project Fund of Yozgat Bozok UniversityRecruiting
-
University of OklahomaCompleted