Fetal Structural AnomaliesNCT06054230
Genomic Sequencing for Evaluation of Fetal Structural Anomalies
A study testing Genomic Sequencer in people with Fetal Structural Anomalies, run by University of California, San Francisco at 1 site in United States.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 18 to 64 yearsHealthy volunteers can take part
- Conditions the study is for
- Fetal Structural Anomalies
- What is being tested?
- Genomic Sequencer
- Type of treatment
- Medical device
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 500 participants
- Where
- 1 siteUnited States
- Study dates
- 18 Sep 2023to 15 Jul 2030
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 64 years
- All sexes
- Healthy volunteers accepted
- Adult
Who may be able to join
- 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
Who cannot join
- Declines diagnostic testing with karyotype or microarray
- Fetal anomaly explained by other testing (viral infection, aneuploidy or copy number variant detected by microarray)
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site
University of California, San Francisco
San Francisco, California, 94143
About this study
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.
Read the 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:
- 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:
- 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.
- Conditions
- Fetal Structural Anomalies
- Being tested
- Genomic Sequencer
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Genomic SequencerDevice
Genomic Sequencing Device
| Study group | Role | What they receive |
|---|---|---|
| Genomic Sequencing | Experimental | Not described Receives: Device: Genomic Sequencer |
What is being measured
The primary outcome is the main question the study is designed to answer.
Diagnostic yield of prenatal genomic sequencing
Number of cases with a positive finding among all cases tested
Measured: Up to three months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Sep 2023
- Study start18 Sep 2023
- Primary completion15 Jul 2030 (estimated)
- Study completion15 Jul 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Fetal Structural AnomaliesStudies of the same condition, open and under way.
- More trials run by University of California, San FranciscoThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 500 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University of California, San Francisco
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Mary Norton, MD, Principal investigator, University of California, San Francisco
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06054230
- Sponsor's protocol ID
- 22-36483
- Status last verified
- Apr 2026
- First submitted
- 19 Sep 2023
- Last updated
- 17 Apr 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- Yes
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 17 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genomic Sequencing for Evaluation of Fetal Structural Anomalies
- ClinicalTrials.gov ID
- NCT06054230
- Acronym / sponsor ID
- 22-36483
- Conditions
- Fetal Structural Anomalies
- Study type
- Interventional
- Recruitment status
- Enrolling by invitation
- Enrolment
- 500 participants (estimated)
- Lead sponsor
- University of California, San FranciscoUniversity, hospital or other
- Study start
- 18 Sep 2023 (actual)
- Primary completion
- 15 Jul 2030 (estimated)
- Study completion
- 15 Jul 2030 (estimated)
- First posted
- 26 Sep 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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:
- 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:
- 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 design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Genomic Sequencing | Experimental | Device: Genomic Sequencer |
Who may qualify
- Ages
- 18 to 64 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult
Key inclusion criteria (2 listed)
- 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
Key exclusion criteria (2 listed)
- Declines diagnostic testing with karyotype or microarray
- Fetal anomaly explained by other testing (viral infection, aneuploidy or copy number variant detected by microarray)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Genomic SequencerGenomic Sequencing Device | Device | Genomic Sequencing |
Primary outcome
Diagnostic yield of prenatal genomic sequencing
Time frame: Up to three months
Number of cases with a positive finding among all cases tested
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 17 Apr 2026.
- Individual participant dataSharing planned: No
Related trials for Fetal Structural Anomalies
RecruitingObservational study
Diagnosis and Management of Intrauterine Growth Restriction and Congenital Anomalies
Intrauterine Growth Restriction, Fetal Anomaly
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Mary Norton, MD principal investigator
University of California, San Francisco
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Genomic Sequencer in people with Fetal Structural Anomalies, run by University of California, San Francisco at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: enrolling by invitation, as of the sponsor's last update on 17 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Diagnostic yield of prenatal genomic sequencing (time frame: Up to three months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 17 Apr 2026.