Fetal Structural AnomaliesPrenatalSEQNCT03936101
Prenatal Genetic Diagnosis by Genomic Sequencing
An observational study of Fetal Structural Anomalies, run by Columbia University at 5 sites in United States.
Trial summary
This study is evaluating the impact of prenatal sequencing on the management of fetuses with ultrasound abnormalities. The hypothesis is that a significant subset of fetal abnormalities have a genetic cause that can be identified by sequencing and that prenatal knowledge of this information will improve prenatal care… Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Fetal Structural Anomalies
- What is being tested?
- Prenatal Genomic Sequencing
- How many people
- 1,097 participants
- Where
- 5 sitesUnited States
- Study dates
- 28 Jun 2019to 25 Mar 2024
- Phase
- Observational
- Are there results?
- Yes, posted in the registrySummary in the doctors' view
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 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: A total of 1,100 pregnancies with fetal structural anomalies and meeting eligibility criteria will be enrolled into the study. Of these, 750 will undergo prenatal genomic sequencing (prenatal sequencing group) and the remaining 350 pregnancies will not have any prenatal genomic sequencing (unsequenced prenatal group). Enrollment of pregnancies with an isolated nuchal translucency measurements ≥ 3.5 mm will be restricted to 5% within each group (sequenced and unsequenced) and isolated estimated fetal weight <5th %ile also will be restricted to 5% for each group (sequenced and unsequenced).
Who may be able to join
- Prenatal sequencing group
- Fetus identified by ultrasound and/or MRI with at least one of the following:
- One or more major structural anomalies (Appendix A)
- A nuchal translucency measurement of ≥ 3.5 mm
- A fetus less than 24 weeks 0 days gestation with normal anatomy and sonographically estimated fetal weight <5th %ile without maternal hypertension, type I diabetes, or other maternal disorders known to alter fetal growth.
- Negative prenatal CMA (or those with CMA findings not related to the ultrasound finding)
Show all 16Show fewer
- Singleton or twin gestation
- Gestational age less than 36 weeks, 0 days to allow for availability of sequencing results before delivery
- Unsequenced Group
- Fetus identified by ultrasound and/or MRI with at least one of the following:
- One or more major structural anomalies (Appendix A)
- A nuchal translucency measurement of ≥ 3.5 mm
- A fetus less than 24 weeks 0 days gestation with normal anatomy and sonographically estimated fetal weight <5th %ile without maternal hypertension, type I diabetes, or other maternal disorders known to alter fetal growth
- Negative prenatal or postnatal CMA (or those with CMA findings not related to the ultrasound finding)
- Declined prenatal sequencing
- Singleton gestation
Who cannot join
- Prenatal Sequencing Group
- Prenatal sequencing or planned prenatal sequencing performed outside of the study, including gene panels
- Maternal or paternal age less than 18 years old
- Proven infectious or teratogenic cause of fetal anomaly
- Planned termination of the pregnancy
- Unavailable blood or saliva samples from both biologic parents prior to sequencing
Show all 16Show fewer
- Parental unwillingness to participate in 1 year postnatal follow-up
- Language barrier (non-English or Spanish speaking)
- Previous consent to the unsequenced prenatal group or enrollment in a previous pregnancy
- Unsequenced Group
- Maternal or paternal age less than 18 years old
- Proven infectious or teratogenic cause of fetal anomaly
- Positive prenatal NIPT screening for trisomy 21,18 or 13. Positive 22q11.2 prenatal NIPT testing with consistent ultrasound findings is also an exclusion.
- Planned termination of the pregnancy
- Parental unwillingness to participate in 1 year postnatal follow-up
- Language barrier (non-English or Spanish speaking)
Trial locations and contacts
5 sites in 1 country.
5 sites in 1 country
United States5 sites
University of North Carolina Chapel Hill
Chapel Hill, North Carolina, 27514
Children's Hospital, Cincinnati Medical Center
Cincinnati, Ohio, 45229
Baylor College of Medicine
Houston, Texas, 77030
UT Health Houston
Houston, Texas, 77030
Columbia University Medical Center
New York, New York, 10032
About this study
Official title: Prenatal Genetic Diagnosis by Genomic Sequencing: A Prospective Evaluation
This study is evaluating the impact of prenatal sequencing on the management of fetuses with ultrasound abnormalities. The hypothesis is that a significant subset of fetal abnormalities have a genetic cause that can be identified by sequencing and that prenatal knowledge of this information will improve prenatal care, reduce unnecessary diagnostic testing, reduce the cost of care, and improve the quality of life for both the child and the family.
Read the detailed description
Whole exome and whole genome sequencing (WGS) have expanded the ability to determine the genetic etiology of previously undiagnosed disorders. This study is a multicenter prospective cohort study to evaluate the emerging technology of sequencing for the management of fetuses with structural anomalies. The hypothesis is that a significant subset of fetal structural anomalies has a genetic etiology identifiable by sequencing and that prenatal knowledge of this information will improve perinatal care, reduce unnecessary diagnostic testing, reduce the cost of care, and improve quality of life for both the child and the family. The aims of this study are to investigate these multiple aspects of prenatal sequencing in a single study with an innovative integrated prospective design, which will permit a robust evaluation of the benefits and risks of delivering diagnostic and prognostic genetic testing results in a prenatal setting.
The study will determine, in a sequential population of pregnancies with selected fetal structural anomalies and a negative or non-causal chromosomal microarray (CMA), the frequency of pathogenic, likely pathogenic, and uncertain genomic variants identifiable by sequencing. To determine the impact of this information on clinical care, a control population of unsequenced pregnancies with similar structural anomalies will be prospectively recruited and the infants from both cohorts will be followed up to 1 year of age. This study component will evaluate differences in healthcare management and cost through discharge from hospital post-delivery, and perinatal and infant outcomes through 1 year of life. The educational, counseling and psychosocial impact of sequencing results during the prenatal period, in the nursery and through 1 year of life also will be evaluated. Since the analytical and clinical tools needed for the full translation of sequencing into care are still developing, optimization of bioinformatic tools to improve identification of pathogenic and likely pathogenic mutations associated with prenatal phenotypes of established disease genes will be investigated, as well as identification of new genes associated with presently undiagnosed fetal/neonatal phenotypes. This study will provide an in-depth evaluation of the prenatal diagnostic value of sequencing prior to its responsible introduction into practice and will provide independent data to guide its translation.
- Conditions
- Fetal Structural Anomalies
- Being tested
- Prenatal Genomic Sequencing
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Prenatal Genomic SequencingDiagnostic test
Whole genome sequencing (which initially will be masked and reported as exome only)
| Study group | Role | What they receive |
|---|---|---|
| Prenatally Sequenced Group | 750 trios with fetal structural anomalies who receive prenatal sequencing from the study Receives: Diagnostic Test: Prenatal Genomic Sequencing | |
| No Prenatal Sequencing (Unsequenced) Group | 350 trios with fetal structural anomalies who do not have prenatal sequencing |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of Participants Who Had Reportable Variants
Reportable variants: defined as either Pathogenic / Likely pathogenic (P/LP) or variant of uncertain significance (VUS) identified by sequencing and deemed reportable by the Variant Adjudication Committee.
Measured: At end of study, approx 4 years
Healthcare Costs
Healthcare costs from time of diagnosis of anomaly to infant discharge between sequenced and unsequenced groups.
Measured: From time of diagnosis of anomaly to infant discharge
Secondary outcomes (21)
Gestational Age at Delivery
Gestational age of newborn at delivery (in weeks)
Measured: At time of delivery
Neonatal Outcomes
Neonatal outcomes will be compared and outcomes will be measured by the number of newborns who experience: need for ventilator support, sepsis, need for pressor support, need for extracorporeal membrane oxygenation (ECMO), metabolic abnormalities (e.g., acidosis, elevated uric acid, hypo-/hyperglycemia), intraventricular hemorrhage, periventricular leukomalacia, encephalopathy, and seizure.
Measured: Up to 28 days after birth
Number of Deaths
Neonatal/infant death at time of discharge and at 12 months of age.
Measured: From discharge to 12 months postpartum
NICU Stay Duration
Length of initial NICU stay and number of days spent in the hospital between initial discharge and 12 months of age.
Measured: From discharge to 12 months postpartum
Length in Centimeters
Infant length at 12 months of age.
Measured: 12 months postpartum
Weight in Kilograms
Infant weight at 12 months of age.
Measured: 12 months postpartum
Score on Development by Ages and Stages Questionnaire (ASQ-3)
Developmental outcomes defined by the following parameters: communication, gross motor, fine motor, problem solving and personal-social, at 12 months of age using ASQ-3. Lower scores are associated with developmental delay. For each developmental area, parents may answer YES=10, SOMETIMES=5, or NOT YET=0 by filling in a bubble for each item response. The full score range for each domain is 0 to 60.
Cutoffs for each domain are: Communication 15.64, Gross Motor 21.49, Fine Motor 34.5, Problem Solving 27.32, Personal-Social 21.73
Measured: 12 months postpartum
Anxiety by Self-report Questionnaire
Anxiety following result disclosure (or 8 weeks post enrollment for the unsequenced group), neonatal discharge and 12 months postpartum. The full score range is 0 to 21, where lower numbers represent lower anxiety (better outcome).
Measured: 2 weeks after disclosure of study sequencing results or 4 weeks after enrollment for the unsequenced group; 1 month after discharge from the hospital or end of the pregnancy if there was a fetal demise or pregnancy termination; 12-15 months postpartum
Depression by Self-report Questionnaire
Depression following result disclosure (or 8 weeks post enrollment for the unsequenced group), neonatal discharge and 12 months postpartum. The full score range is 0 to 24, where a lower score represents lower depression (better outcome).
Measured: 2 weeks after disclosure of study sequencing results or 4 weeks after enrollment for the unsequenced group; 1 month after discharge from the hospital or end of the pregnancy if there was a fetal demise or pregnancy termination; 12-15 months postpartum
Quality of Life by Self-report Questionnaire
Quality of life for the patient and family at 12 months postpartum.
Measured: Approximately 4.5 years
QALY, Measured in Cost Per Year
Incremental cost per Quality Adjusted Life Year (QALY).
Measured: Approximately 4.5 years
Total Number of Identified Phenotypes Associated With Disease- Sequenced Group ONLY
Phenotypic Expansion: Apparent prenatal phenotypic expansion from currently defined pediatric phenotypes.
Measured: 12 months postpartum
Number of Participants With VUS - Sequenced Group ONLY
Variants of uncertain significance (VUS) that have not yet been associated with this disease phenotype.
This outcome was only intended to be measured in participants in the Sequenced arm, as outlined in the study protocol. Data for this outcome was not collected from any participant in the Unsequenced arm.
Measured: 12 months postpartum
Number of Participants With Variants Classified as GUS - Sequenced Group ONLY
VUS subclassified as compelling variants in novel genes that are not yet disease associated (genes of uncertain clinical significance; GUS).
This outcome was only intended to be measured in participants in the Sequenced arm, as outlined in the study protocol. Data for this outcome was not collected from any participant in the Unsequenced arm.
Measured: 12 months postpartum
Digital WES - Comparison of Coding and Non-coding Results - Sequenced Group ONLY
Pathogenic, likely pathogenic and VUS variants identified by sequencing (coding and non-coding regions) compared with coding regions only (digital WES).
Measured: Approximately 4.5 years
Proband Only Versus Trio - Comparison of Results Between Trio and Proband Only - Sequenced Group ONLY
Pathogenic, likely pathogenic and VUS variants identified by analysis of a proband alone compared to a proband-parent trio.
Measured: Approximately 4.5 years
Change in Management (Healthcare) as Determined by NICU Physician and Record Review - Sequenced Group ONLY
Number of participants who had a change in management decisions attributable to genomic results, defined as changes to the patient's treatment plan or changes to the counseling of the patient/family regarding the immediate or long-term medical management.
This outcome was only intended to be measured in participants in the Sequenced arm, as outlined in the study protocol. Data for this outcome was not collected from any participant in the Unsequenced arm.
Measured: From delivery until discharge or death (neonatal)
Parental Support Needs by Self-report Questionnaire - Sequenced Group ONLY
Assessment of educational/counseling and social support needs of the mother and father. The full score range is 12 to 60, where a higher score represents a higher satisfaction with the experience (better outcome).
Measured: At sequencing completion, approximately 4.5 years
Parental Understanding by Self-report Questionnaire - Sequenced Group ONLY
Accuracy of parental understanding of genetic test results. The parental responses to the question "How well do you understand your prenatal genetic test results?" will be collected. All possible responses are: "Not at all", "A little bit", "Moderately", "Quite a bit", and "Extremely"
Measured: At sequencing completion, approximately 4.5 years
Number of Participants Who Had a Change in the Sequencing Result - Sequenced Group ONLY
Reinterpretations of sequencing results that lead to a change in classification of sequencing variants.
This outcome was only intended to be measured in participants in the Sequenced arm, as outlined in the study protocol. Data for this outcome was not collected from any participant in the Unsequenced arm.
Measured: From sequencing completion to data analysis period, up to 4.5 years
Turnaround Time - Sequenced Group ONLY
Turnaround time of sequencing components and how it changes over time. This outcome was only intended to be measured in participants in the Sequenced arm, as outlined in the study protocol. Data for this outcome was not collected from any participant in the Unsequenced arm.
Measured: Time from sequencing initiation until study site result, up to 38 days
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 May 2019
- Study start28 Jun 2019
- Primary completion25 Mar 2024
- Study completion25 Mar 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
- Other trials for Fetal Structural AnomaliesStudies of the same condition, open and under way.
- More trials run by Columbia UniversityThe 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
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 1,097 participants (actual)
Sponsor and investigators
- Lead sponsor
- Columbia University
- Sponsor type
- University, hospital or other
- Collaborators
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), Baylor College of Medicine, University of North Carolina, The George Washington University Biostatistics Center, Oregon Health and Science University, Children's Hospital Medical Center, Cincinnati, The University of Texas Health Science Center, Houston, Broad Institute of MIT and Harvard, The Jackson Laboratory
- Responsible party
- Principal investigator, Ronald J Wapner, MD, Columbia University
- Investigators
- Ronald Wapner, MD, Principal investigator, Columbia University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03936101
- Sponsor's protocol ID
- AAAS2118
- Other IDs
- R01HD055651
- Acronym
- PrenatalSEQ
- Status last verified
- Oct 2025
- First submitted
- 25 Mar 2019
- Last updated
- 27 Oct 2025
- Results posted
- Yes, on ClinicalTrials.gov
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: In accordance with the NIH Genomic Data Sharing policy, sequencing data (including VCF files) and clinical data will be shared with other scientific investigators and through the controlled access dbGAP repository or comparable genomics commons, the Sequence Read Archive, and any NIH Birth Defects Commons that is established. A final dataset containing clinical and phenotypic data will be submitted to the NICHD data repository (DASH). In addition, new algorithms and allele frequency data will be shared with the newly developed Precision FDA platform as applicable.
Study at a glance
From the registry record, last updated by the sponsor on 27 Oct 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Prenatal Genetic Diagnosis by Genomic Sequencing: A Prospective Evaluation
- ClinicalTrials.gov ID
- NCT03936101
- Acronym / sponsor ID
- PrenatalSEQ / AAAS2118
- Conditions
- Fetal Structural Anomalies
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 1,097 participants (actual)
- Lead sponsor
- Columbia UniversityUniversity, hospital or other
- Collaborators
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), Baylor College of Medicine, University of North Carolina, The George Washington University Biostatistics Center, Oregon Health and Science University, Children's Hospital Medical Center, Cincinnati, The University of Texas Health Science Center, Houston, Broad Institute of MIT and Harvard, The Jackson Laboratory
- Study start
- 28 Jun 2019 (actual)
- Primary completion
- 25 Mar 2024 (actual)
- Study completion
- 25 Mar 2024 (actual)
- First posted
- 3 May 2019 (actual)
- Results
- Posted 27 Oct 2025
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This study is evaluating the impact of prenatal sequencing on the management of fetuses with ultrasound abnormalities. The hypothesis is that a significant subset of fetal abnormalities have a genetic cause that can be identified by sequencing and that prenatal knowledge of this information will improve prenatal care, reduce unnecessary diagnostic testing, reduce the cost of care, and improve the quality of life for both the child and the family.
Detailed description
Whole exome and whole genome sequencing (WGS) have expanded the ability to determine the genetic etiology of previously undiagnosed disorders. This study is a multicenter prospective cohort study to evaluate the emerging technology of sequencing for the management of fetuses with structural anomalies. The hypothesis is that a significant subset of fetal structural anomalies has a genetic etiology identifiable by sequencing and that prenatal knowledge of this information will improve perinatal care, reduce unnecessary diagnostic testing, reduce the cost of care, and improve quality of life for both the child and the family. The aims of this study are to investigate these multiple aspects of prenatal sequencing in a single study with an innovative integrated prospective design, which will permit a robust evaluation of the benefits and risks of delivering diagnostic and prognostic genetic testing results in a prenatal setting.
The study will determine, in a sequential population of pregnancies with selected fetal structural anomalies and a negative or non-causal chromosomal microarray (CMA), the frequency of pathogenic, likely pathogenic, and uncertain genomic variants identifiable by sequencing. To determine the impact of this information on clinical care, a control population of unsequenced pregnancies with similar structural anomalies will be prospectively recruited and the infants from both cohorts will be followed up to 1 year of age. This study component will evaluate differences in healthcare management and cost through discharge from hospital post-delivery, and perinatal and infant outcomes through 1 year of life. The educational, counseling and psychosocial impact of sequencing results during the prenatal period, in the nursery and through 1 year of life also will be evaluated. Since the analytical and clinical tools needed for the full translation of sequencing into care are still developing, optimization of bioinformatic tools to improve identification of pathogenic and likely pathogenic mutations associated with prenatal phenotypes of established disease genes will be investigated, as well as identification of new genes associated with presently undiagnosed fetal/neonatal phenotypes. This study will provide an in-depth evaluation of the prenatal diagnostic value of sequencing prior to its responsible introduction into practice and will provide independent data to guide its translation.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Prenatally Sequenced Group | – | Diagnostic Test: Prenatal Genomic Sequencing750 trios with fetal structural anomalies who receive prenatal sequencing from the study |
| No Prenatal Sequencing (Unsequenced) Group | – | –350 trios with fetal structural anomalies who do not have prenatal sequencing |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- A total of 1,100 pregnancies with fetal structural anomalies and meeting eligibility criteria will be enrolled into the study. Of these, 750 will undergo prenatal genomic sequencing (prenatal sequencing group) and the remaining 350 pregnancies will not have any prenatal genomic sequencing (unsequenced prenatal group). Enrollment of pregnancies with an isolated nuchal translucency measurements ≥ 3.5 mm will be restricted to 5% within each group (sequenced and unsequenced) and isolated estimated fetal weight <5th %ile also will be restricted to 5% for each group (sequenced and unsequenced).
Key inclusion criteria (16 listed)
- Prenatal sequencing group
- Fetus identified by ultrasound and/or MRI with at least one of the following:
- Negative prenatal CMA (or those with CMA findings not related to the ultrasound finding)
- Singleton or twin gestation
- Gestational age less than 36 weeks, 0 days to allow for availability of sequencing results before delivery
Key exclusion criteria (16 listed)
- Prenatal Sequencing Group
- Prenatal sequencing or planned prenatal sequencing performed outside of the study, including gene panels
- Maternal or paternal age less than 18 years old
- Proven infectious or teratogenic cause of fetal anomaly
- Planned termination of the pregnancy
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 |
|---|---|---|
| Prenatal Genomic SequencingWhole genome sequencing (which initially will be masked and reported as exome only) | Diagnostic test | Prenatally Sequenced Group |
Primary outcome
Number of Participants Who Had Reportable Variants
Time frame: At end of study, approx 4 years
Reportable variants: defined as either Pathogenic / Likely pathogenic (P/LP) or variant of uncertain significance (VUS) identified by sequencing and deemed reportable by the Variant Adjudication Committee.
Healthcare Costs
Time frame: From time of diagnosis of anomaly to infant discharge
Healthcare costs from time of diagnosis of anomaly to infant discharge between sequenced and unsequenced groups.
21 secondary outcomes
Gestational Age at Delivery
Time frame: At time of delivery
Neonatal Outcomes
Time frame: Up to 28 days after birth
Number of Deaths
Time frame: From discharge to 12 months postpartum
NICU Stay Duration
Time frame: From discharge to 12 months postpartum
Length in Centimeters
Time frame: 12 months postpartum
Weight in Kilograms
Time frame: 12 months postpartum
Score on Development by Ages and Stages Questionnaire (ASQ-3)
Time frame: 12 months postpartum
Anxiety by Self-report Questionnaire
Time frame: 2 weeks after disclosure of study sequencing results or 4 weeks after enrollment for the unsequenced group; 1 month after discharge from the hospital or end of the pregnancy if there was a fetal demise or pregnancy termination; 12-15 months postpartum
Depression by Self-report Questionnaire
Time frame: 2 weeks after disclosure of study sequencing results or 4 weeks after enrollment for the unsequenced group; 1 month after discharge from the hospital or end of the pregnancy if there was a fetal demise or pregnancy termination; 12-15 months postpartum
Quality of Life by Self-report Questionnaire
Time frame: Approximately 4.5 years
QALY, Measured in Cost Per Year
Time frame: Approximately 4.5 years
Total Number of Identified Phenotypes Associated With Disease- Sequenced Group ONLY
Time frame: 12 months postpartum
Number of Participants With VUS - Sequenced Group ONLY
Time frame: 12 months postpartum
Number of Participants With Variants Classified as GUS - Sequenced Group ONLY
Time frame: 12 months postpartum
Digital WES - Comparison of Coding and Non-coding Results - Sequenced Group ONLY
Time frame: Approximately 4.5 years
Proband Only Versus Trio - Comparison of Results Between Trio and Proband Only - Sequenced Group ONLY
Time frame: Approximately 4.5 years
Change in Management (Healthcare) as Determined by NICU Physician and Record Review - Sequenced Group ONLY
Time frame: From delivery until discharge or death (neonatal)
Parental Support Needs by Self-report Questionnaire - Sequenced Group ONLY
Time frame: At sequencing completion, approximately 4.5 years
Parental Understanding by Self-report Questionnaire - Sequenced Group ONLY
Time frame: At sequencing completion, approximately 4.5 years
Number of Participants Who Had a Change in the Sequencing Result - Sequenced Group ONLY
Time frame: From sequencing completion to data analysis period, up to 4.5 years
Turnaround Time - Sequenced Group ONLY
Time frame: Time from sequencing initiation until study site result, up to 38 days
Results and safety
Loading the posted results from ClinicalTrials.gov…
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 Oct 2025.
- Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
- Individual participant dataSharing planned: Yes. In accordance with the NIH Genomic Data Sharing policy, sequencing data (including VCF files) and clinical data will be shared with other scientific investigators and through the controlled access dbGAP repository or comparable genomics commons, the Sequence Read Archive, and any NIH Birth Defects Commons that is established. A final dataset containing clinical and phenotypic data will be submitted to the NICHD data repository (DASH). In addition, new algorithms and allele frequency data will be shared with the newly developed Precision FDA platform as applicable.
Related trials for Fetal Structural Anomalies
Enrolling by invitation
Genomic Sequencing for Evaluation of Fetal Structural Anomalies
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. This study is not recruiting at the moment.
Ronald Wapner, MD principal investigator
Columbia University
5 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Fetal Structural Anomalies, run by Columbia University at 5 sites 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 16 inclusion and 16 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: finished, as of the sponsor's last update on 27 Oct 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 5 sites 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?
Yes. Results are posted in the registry (first posted 27 Oct 2025). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.
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?
Number of Participants Who Had Reportable Variants (time frame: At end of study, approx 4 years). The study lists 2 primary outcomes in all. 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 27 Oct 2025.