<clinical_study>
  <!-- This xml conforms to an XML Schema at:
    https://clinicaltrials.gov/ct2/html/images/info/public.xsd -->
  <required_header>
    <download_date>ClinicalTrials.gov processed this data on September 20, 2023</download_date>
    <link_text>Link to the current ClinicalTrials.gov record.</link_text>
    <url>https://clinicaltrials.gov/ct2/show/NCT02255825</url>
  </required_header>
  <id_info>
    <org_study_id>140456</org_study_id>
    <nct_id>NCT02255825</nct_id>
  </id_info>
  <brief_title>Development of an Optimal Approach to Return of Results for Next-generation Sequencing for Prenatal Diagnosis</brief_title>
  <official_title>Development of an Optimal Approach to Return of Results for Families Undergoing Next-generation Sequencing for Prenatal Diagnosis.</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>University of California, San Diego</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>University of California, San Diego</source>
  <oversight_info>
    <has_dmc>Yes</has_dmc>
  </oversight_info>
  <brief_summary>
    <textblock>
      To gain knowledge about how patients undergoing prenatal diagnosis for a fetal abnormality&#xD;
      understand and react to Whole Genome Sequencing (WGS) testing, so that the investigators can&#xD;
      develop more ethical and responsible approach to patient education, counseling, and return of&#xD;
      results for patients.&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      Although whole exome sequencing (WES) was first used for identification of the genetic cause&#xD;
      of a disease only in 2009 and whole genome sequencing (WGS) in 2010, and questions remain&#xD;
      about their performance as clinical tests, they are already being offered to patients and&#xD;
      doctors as a clinical test by several laboratories certified by the US government (14 labs&#xD;
      for WES and 5 labs for WGS). The results from WES and WGS can be complex and confusing, even&#xD;
      for doctors and scientists who work with this technology on a daily basis; for patients, the&#xD;
      process of deciding whether to have WES or WGS testing, undergoing the testing, receiving the&#xD;
      results, and trying to use the results for further decision-making could be quite stressful.&#xD;
      Currently, this process occurs in an unstandardized fashion, with some patients receiving&#xD;
      extensive education and counseling, and others receiving almost none. There is a critical&#xD;
      need to identify patient needs and desires in this area, and to develop strategies to satisfy&#xD;
      them. The primary goal of this project is to gain knowledge about how patients undergoing&#xD;
      prenatal diagnosis for a fetal abnormality understand and react to WGS testing, so that we&#xD;
      can develop a more ethical and responsible approach to patient education, counseling, and&#xD;
      return of results for patients . In order to do this, we need to evaluate parents'&#xD;
      understanding of the utility and limitations of the technology, parents' preferences&#xD;
      regarding the types of results they want to receive, and the psychological impact of&#xD;
      receiving results from this technology. We will enroll 30 families consisting of a woman&#xD;
      carrying a fetus with a major abnormality identified by ultrasound, and the father of the&#xD;
      fetus, who have opted for amniocentesis for standard prenatal diagnostic testing&#xD;
      (karyotyping, fluorescence in situ hybridization (FISH) and/or microarray testing). Half of&#xD;
      the families will serve as controls, who will only have standard prenatal diagnostic testing.&#xD;
      For the other half of the families, WGS will be performed in addition to standard diagnostic&#xD;
      testing. For all 30 cases, we will perform psychosocial evaluations (including assessments of&#xD;
      the subjects' mood, understanding of the technology and preferences for return of results) at&#xD;
      the time of enrollment, at the time of return of CLIA-certified genetic testing results&#xD;
      (karyotype, FISH, microarray, and/or WGS), and after completion of the pregnancy. In this&#xD;
      way, we will learn whether participants are receiving adequate education about&#xD;
      next-generation sequencing to make informed choices, what the range of preferences are for&#xD;
      return of results in a prenatal population (and whether this changes when new methods for&#xD;
      prenatal diagnosis are employed), and whether the use of WGS imposes additional psychological&#xD;
      stress compared to standard prenatal diagnostic tests. This study will be carried out in a&#xD;
      stepwise and carefully monitored environment, with progress overseen by an Independent Data&#xD;
      Monitoring Committee in order to maximize the knowledge gained while minimizing potential&#xD;
      harms.&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Withdrawn</overall_status>
  <why_stopped>
    Awaiting verification of assay&#xD;
  </why_stopped>
  <start_date>October 2014</start_date>
  <completion_date type="Actual">June 4, 2019</completion_date>
  <primary_completion_date type="Actual">June 4, 2019</primary_completion_date>
  <phase>N/A</phase>
  <study_type>Interventional</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <allocation>Non-Randomized</allocation>
    <intervention_model>Parallel Assignment</intervention_model>
    <primary_purpose>Other</primary_purpose>
    <masking>None (Open Label)</masking>
  </study_design_info>
  <primary_outcome>
    <measure>Change in maternal mood (focused on assessment of depression)</measure>
    <time_frame>At enrollment and 3 months after completion of pregnancy (expected to be 8 months after enrollment)</time_frame>
    <description>Compare mood measured by EPDS between enrollment and 3 months after completion of pregnancy</description>
  </primary_outcome>
  <primary_outcome>
    <measure>Change in paternal mood (focused on assessment of depression)</measure>
    <time_frame>At enrollment and 3 months after completion of pregnancy (expected to be 8 months after enrollment)</time_frame>
    <description>Compare mood measured by EPDS between enrollment and 3 months after completion of pregnancy</description>
  </primary_outcome>
  <secondary_outcome>
    <measure>Change in maternal mood (focused on assessment of anxiety)</measure>
    <time_frame>At enrollment and 3 months after completion of pregnancy (expected to be 8 months after enrollment)</time_frame>
    <description>Compare anxiety measured by STAI between enrollment and 3 months after completion of pregnancy</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Change in paternal mood (focused on assessment of anxiety)</measure>
    <time_frame>At enrollment and 3 months after completion of pregnancy (expected to be 8 months after enrollment)</time_frame>
    <description>Compare anxiety measured by STAI between enrollment and 3 months after completion of pregnancy</description>
  </secondary_outcome>
  <number_of_arms>2</number_of_arms>
  <enrollment type="Actual">0</enrollment>
  <condition>Major Fetal Anomaly</condition>
  <arm_group>
    <arm_group_label>Control Group</arm_group_label>
    <arm_group_type>Active Comparator</arm_group_type>
    <description>Amniocentesis will be performed, Whole Genome Sequencing will not be performed, and psychosocial assessment will be performed.</description>
  </arm_group>
  <arm_group>
    <arm_group_label>Intervention Group</arm_group_label>
    <arm_group_type>Experimental</arm_group_type>
    <description>Amniocentesis will be performed, Whole Genome Sequencing will be performed if the karyotype is normal, and psychosocial assessment will be performed.</description>
  </arm_group>
  <intervention>
    <intervention_type>Genetic</intervention_type>
    <intervention_name>Whole Genome Sequencing</intervention_name>
    <description>Whole genome sequencing in a CLIA lab and return of results.</description>
    <arm_group_label>Intervention Group</arm_group_label>
  </intervention>
  <intervention>
    <intervention_type>Procedure</intervention_type>
    <intervention_name>Amniocentesis</intervention_name>
    <description>Note: this is being performed on all subjects as a clinical (not research) procedure</description>
    <arm_group_label>Control Group</arm_group_label>
    <arm_group_label>Intervention Group</arm_group_label>
  </intervention>
  <intervention>
    <intervention_type>Other</intervention_type>
    <intervention_name>Psychosocial assessment</intervention_name>
    <description>Use of EPDS and STAI for assessment of maternal and paternal mood</description>
    <arm_group_label>Control Group</arm_group_label>
    <arm_group_label>Intervention Group</arm_group_label>
  </intervention>
  <eligibility>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  Subject(s) 18 years or older (both mom and father of baby (FOB)&#xD;
&#xD;
          -  Subject is undergoing prenatal testing for a major fetal anomaly&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  Mothers or fathers of the affected fetus are under the age of 18 years&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>18 Years</minimum_age>
    <maximum_age>N/A</maximum_age>
    <healthy_volunteers>Accepts Healthy Volunteers</healthy_volunteers>
  </eligibility>
  <location>
    <facility>
      <name>UCSD Health Sciences, Fetal Care and Genetics</name>
      <address>
        <city>San Diego</city>
        <state>California</state>
        <zip>92121</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>United States</country>
  </location_countries>
  <verification_date>June 2019</verification_date>
  <study_first_submitted>September 24, 2014</study_first_submitted>
  <study_first_submitted_qc>September 30, 2014</study_first_submitted_qc>
  <study_first_posted type="Estimate">October 3, 2014</study_first_posted>
  <last_update_submitted>June 4, 2019</last_update_submitted>
  <last_update_submitted_qc>June 4, 2019</last_update_submitted_qc>
  <last_update_posted type="Actual">June 6, 2019</last_update_posted>
  <responsible_party>
    <responsible_party_type>Principal Investigator</responsible_party_type>
    <investigator_affiliation>University of California, San Diego</investigator_affiliation>
    <investigator_full_name>Louise Laurent, MD/PhD</investigator_full_name>
    <investigator_title>MD/PhD</investigator_title>
  </responsible_party>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Congenital Abnormalities</mesh_term>
  </condition_browse>
  <!-- Results have not yet been posted for this study                                          -->
</clinical_study>


download date: ClinicalTrials.gov processed this data on September 20, 2023
link text: Link to the current ClinicalTrials.gov record.
url: https://clinicaltrials.gov/ct2/show/NCT02255825
org study id: 140456
nct id: NCT02255825
lead sponsor: 
has dmc: Yes
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.
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.
allocation: Non-Randomized
intervention model: Parallel Assignment
primary purpose: Other
masking: None (Open Label)
measure: 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)
description: Compare mood measured by EPDS between enrollment and 3 months after completion of pregnancy
measure: 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)
description: Compare mood measured by EPDS between enrollment and 3 months after completion of pregnancy
measure: 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)
description: Compare anxiety measured by STAI between enrollment and 3 months after completion of pregnancy
measure: 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)
description: Compare anxiety measured by STAI between enrollment and 3 months after completion of pregnancy
arm group label: Control Group
arm group type: Active Comparator
description: Amniocentesis will be performed, Whole Genome Sequencing will not be performed, and psychosocial assessment will be performed.
arm group label: Intervention Group
arm group type: Experimental
description: Amniocentesis will be performed, Whole Genome Sequencing will be performed if the karyotype is normal, and psychosocial assessment will be performed.
intervention type: Genetic
intervention name: Whole Genome Sequencing
description: Whole genome sequencing in a CLIA lab and return of results.
arm group label: Intervention Group
intervention type: Procedure
intervention name: Amniocentesis
description: Note: this is being performed on all subjects as a clinical (not research) procedure
arm group label: Control Group
arm group label: Intervention Group
intervention type: Other
intervention name: Psychosocial assessment
description: Use of EPDS and STAI for assessment of maternal and paternal mood
arm group label: Control Group
arm group label: Intervention Group
criteria: 
gender: All
minimum age: 18 Years
maximum age: N/A
healthy volunteers: Accepts Healthy Volunteers
facility: 
country: United States
responsible party type: Principal Investigator
investigator affiliation: University of California, San Diego
investigator full name: Louise Laurent, MD/PhD
investigator title: MD/PhD
mesh term: Congenital Abnormalities