- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT06054230
Genomic Sequencing for Evaluation of Fetal Structural Anomalies
This study follows an observational prospective cohort design. Women with fetal structural anomalies are routinely offered diagnostic testing with chorionic villus sampling or amniocentesis, with analysis for chromosomal analysis using karyotype or microarray analysis. Women in whom such testing does not explain the fetal phenotype, or in whom a genetic disease is strongly suggested based on the phenotype or a pattern of recurrent anomalies, will be offered exome sequencing (ES) and/or genome sequencing (GS) through the UCSF CLIA certified Genomic Medicine Laboratory. In advance of study enrollment, patients have been counseled regarding the structural anomalies in the fetus and offered pregnancy termination. The sequencing results for on-going pregnancies have a turnaround time of 2-4 weeks, and in the majority of cases are available after decisions have been made regarding continuation or termination of pregnancy.
Patients who decline diagnostic testing but who have a prenatally identified anomaly may be offered the option of testing on umbilical cord blood at delivery or on the placenta or other products of conception after a stillbirth or pregnancy termination. The project is exploratory in nature, with the ultimate goal of contributing to a growing body of phenotypic data and understanding how providers and patients utilize genomic (either exome or genome) sequencing results during pregnancy.
Study Overview
Status
Conditions
Intervention / Treatment
Detailed Description
Over the last several years, UCSF providers in the Fetal Treatment Center (FTC) and Prenatal Diagnosis Center (PDC) have been conducting genomic sequencing research studies for prenatal cases of fetal structural anomalies and pregnancy complications. This study seeks to build on preliminary work by our team at UCSF.
The investigators will study:
A. The effectiveness of sequencing as a tool for diagnosing the underlying genetic cause in fetuses with structural anomalies B. The prenatal presentation of genetic diseases and how genetic variants may be associated with specific fetal phenotypes C. How identifying a genetic diagnosis can help providers predict prognosis, counsel patients, and provide focused antenatal and postnatal management of the fetus/infant D. How patients and families understand and benefit from identifying an underlying genetic diagnosis in a pregnancy with fetal structural anomalies
Specific Aims:
A. Demonstrate the effectiveness of sequencing as a tool for diagnosing the underlying genetic cause in fetuses with structural anomalies B. Define the prenatal presentation of genetic diseases and how genetic variants may be associated with specific fetal phenotypes C. Determine how identifying a genetic diagnosis can help providers predict prognosis, counsel patients, and provide focused antenatal and postnatal management of the fetus/infant D. Identify how patients and families understand and benefit from identifying an underlying genetic diagnosis in a pregnancy with fetal structural anomalies
This study follows an observational prospective cohort design. Patients with fetal structural anomalies are routinely offered diagnostic testing with chorionic villus sampling or amniocentesis. Patients in whom such testing does not explain the fetal phenotype, or in whom a genetic disease is strongly suggested based on the phenotype or a pattern of recurrent anomalies, will be offered exome sequencing (ES) and/or genome sequencing. Patients who decline prenatal diagnostic testing but who have a prenatally identified anomaly may be offered the option of testing on umbilical cord blood at delivery or on the placenta or other products of conception after a stillbirth or pregnancy termination. Blood or saliva samples will be collected on both parents, when possible, to allow the option of trio ES/GS or for follow up Sanger sequencing on these specimen determining inheritance of any potentially significant fetal variants that are identified. Patients will be asked to accept or decline analysis for secondary findings, as recommended by the American College of Medical Genetics and Genomics.Exome and genome sequencing will be performed in the UCSF clinical Genomic Medicine Laboratory, and patients will receive results through the CLIA certified clinical laboratory. Patients will be managed as per usual clinical protocols. Clinical data will be collected regarding the pregnancy, delivery, neonatal and early childhood outcomes.
Study Type
Enrollment (Estimated)
Phase
- Not Applicable
Contacts and Locations
Study Locations
-
-
California
-
San Francisco, California, United States, 94143
- University of California, San Francisco
-
-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
- Adult
Accepts Healthy Volunteers
Study Population
Description
Inclusion Criteria:
- Pregnant individual >18 years of age
- Pregnant with a fetus (singleton or multiple gestation) affected by one or more fetal anomalies, unexplained fetal death after 14 wks, unexplained severe fetal growth restriction (< 3%ile), unexplained severe polyhydramnios
Exclusion Criteria:
- Declines diagnostic testing with karyotype or microarray
- Fetal anomaly explained by other testing (viral infection, aneuploidy or copy number variant detected by microarray)
Study Plan
How is the study designed?
Design Details
- Primary Purpose: Diagnostic
- Allocation: N/A
- Interventional Model: Single Group Assignment
- Masking: None (Open Label)
Arms and Interventions
Participant Group / Arm |
Intervention / Treatment |
---|---|
Experimental: Genomic Sequencing
|
Genomic Sequencing Device
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Diagnostic yield of prenatal genomic sequencing
Time Frame: Up to three months
|
Number of cases with a positive finding among all cases tested
|
Up to three months
|
Collaborators and Investigators
Investigators
- Principal Investigator: Mary Norton, MD, University of California, San Francisco
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Estimated)
Study Completion (Estimated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
Other Study ID Numbers
- 22-36483
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
product manufactured in and exported from the U.S.
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.
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