Prenatal Genetic DiagnosisguideSEQNCT07610590
guideSEQ: Genomic Understanding, Impact, Decision & Ethics in Prenatal Sequencing
A study testing Genome Sequencing (GS) in people with Prenatal Genetic Diagnosis, run by Columbia University at 3 sites in United States.
Trial summary
This study looks at whether genome sequencing should be used more routinely during pregnancy, even when ultrasounds look normal. Genome sequencing can examine nearly all of a baby's genes and may find genetic conditions that standard tests do not detect. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Prenatal Genetic Diagnosis
- What is being tested?
- Genome Sequencing (GS)
- How many people
- 1,042 participants
- Where
- 3 sitesUnited States
- Study dates
- 29 Apr 2026to 31 Jul 2029
- 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 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Who may be able to join
- Patient planned chorionic villus sampling (CVS) or amniocentesis in the absence of major fetal structural anomalies (minor anomalies are eligible, the HPO (Human Phenotype Ontology) will not be used by the analyst)
- Certified genetic counselor involved in care
Who cannot join
- A major structural anomaly
- Maternal or paternal age less than 18 years old
- Parental unwillingness to participate in 1 year of postnatal follow-up
- Language barrier (non-English or Spanish speaking)
Trial locations and contacts
3 sites in 1 country. Contact the study team or a site near you to ask about taking part.
United States3 sites, 1 recruiting
- Active, not recruiting
Boston Childrens Hospital
Boston, Massachusetts, 02115
- Active, not recruiting
New York Genome Center
New York, New York, 10013
- Recruiting
Columbia University Irving Medical Center (CUIMC)
New York, New York, 10032
Camila Zarate, MPH, 646-300-0197, cz2888@cumc.columbia.edu
Jessica Giordano, MS, CGC, 516-521-5604, jlg2197@cumc.columbia.edu
About this study
This study looks at whether genome sequencing should be used more routinely during pregnancy, even when ultrasounds look normal. Genome sequencing can examine nearly all of a baby's genes and may find genetic conditions that standard tests do not detect. Researchers will compare this test with current prenatal testing to see if it provides helpful information for families and doctors. The study will also explore how parents decide what kinds of genetic information they want to receive and how this information affects their experience during pregnancy. The goal is to understand whether genome sequencing can be used in a way that is helpful, responsible, and supportive for families in the future.
Read the detailed description
This multicenter, observational cohort study will evaluate prenatal sequencing among pregnancies with no fetal structural anomalies recruited at university based medical centers and evaluated at the New York Genome Center. Pregnancies with no fetal structural anomalies and meeting eligibility criteria will be enrolled into the study.
The prenatal sequencing group will be used to determine the frequency of pathogenic, likely pathogenic, and uncertain genomic variants identifiable by sequencing and the relative yield of sequencing. The prenatal sequencing group will be evaluated to understand the psychosocial needs of pregnant couples. Mothers, fathers and infants will be followed through 1 year postpartum.
The main objective of this multi-center collaborative study is to evaluate genome sequencing as a prenatal diagnostic tool in pregnancies with no known structural anomalies. Specifically, the aims are as follows:
Aim 1: Determine in pregnancies with a normal finding on ultrasound imaging, the frequency and types of fetal and maternal genetic conditions identified by GS, which impact clinical care. The goal is to understand the scope of these conditions, explore appropriate reporting criteria in pregnancy, and the role of genetic conditions in maternal morbidity and mortality.
Aim 2: Determine parental attitudes, choices, and the impact of offering prenatal whole genome sequencing as a genetic diagnostic screen in pregnancies with normal ultrasound anatomy. Clinician and community perspectives on the utility of prenatal GS as a non-invasive tool will be evaluated.
Aim 3: Expand the infrastructure for the standardized collection of prenatal genotype and phenotype data that is required to maximize future interpretive algorithms.
- Conditions
- Prenatal Genetic Diagnosis
- Being tested
- Genome Sequencing (GS)
- Keywords
- Genome Sequencing
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Genome Sequencing (GS)Genetic
Genome sequencing (GS) is a genetic test that involves reading the genome to identify genetic changes (also known as "genetic variants") that can cause differences in human development and disease.
What is being measured
The primary outcome is the main question the study is designed to answer.
Incremental Genomic Frequency
The incremental frequency of fetal genetic conditions identified and reported by genomic sequencing (GS) compared to those found by standard-of-care (SOC) testing, including pathogenic, likely pathogenic, or variant of uncertain significance (VUS) variants identified by sequencing and deemed reportable by the Variant Adjudication Committee
Measured: Baseline to 12 months postpartum.
Secondary outcomes (23)
Frequency and type of pathogenic and likely pathogenic (P/LP) genomic findings by SOC and GS independently
Measured: Baseline to 12 months postpartum.
Percent and type of P/LP findings reported
Measured: Baseline to 12 months postpartum.
Percent of fetal P/LP findings requiring adjudication
Measured: Baseline to 12 months postpartum.
Turnaround time of SOC and GS testing
Measured: Baseline to 12 months postpartum.
Frequency of reportable genomic findings in mother
Measured: Baseline to 12 months postpartum.
Number of specialists added to the care of the pregnancy, delivery, and newborn care (as applicable) based on the reported genetic results
Measured: Baseline to 12 months postpartum.
Frequency of participants electing to undergo standard vs tiered reporting
Measured: Baseline to 12 months Postpartum
Comparison of the demographic characteristics between these two groups
Measured: Baseline to 12 month Postpartum
Frequency of participants opting in to reporting of strong variants of uncertain Significance
Measured: Baseline to 12 month postpartum
Frequency and type of strong VUS results amongst people who opt in to receiving them
Measured: Baseline to 12 month postpartum
Frequency of VUS findings by SOC vs GS testing, amongst people who opt in to receiving them on GS
Measured: Baseline to 12 months postpartum
Comparison of the demographic characteristics between those who opt in and those who opt out of receiving strong VUS results
Measured: Baseline to 12 month postpartum
Frequency of participants opting out of reporting on copy number variants associated with susceptibility to neurodevelopmental disorders
Measured: Baseline to 12 months postpartum
Comparison of demographic characteristics between those who opt in and those who opt out of receiving susceptibility CNV results
Measured: Baseline to 12 month postpartum
Frequency of participants opting in to receive results for conditions up to and including age 18
Measured: Baseline to 12 months postpartum
Frequency of reportable findings that may cause symptom presentation at any point during childhood (up to and including age 18) amongst those who opt in
Measured: Baseline to 12 months postpartum
Comparison of the demographic characteristics between those who opt in to receive results with possible symptom presentation up to and including age 18 vs those who elect only reporting of variants with symptom presentation up to and including only age 7
Measured: Baseline to 12 months postpartum
Frequency of participants electing to receive secondary findings per ACMG (American College of Medical Genetics) criteria
Measured: Baseline to 12 months postpartum
Frequency of ACMG secondary findings amongst those who opt in
Measured: Baseline to 12 months postpartum
Frequency of ACMG secondary findings that would have been reported regardless of this option given immediate implications for maternal health in the peripartum period
Measured: Baseline to 12 months postpartum
Comparison of the demographic characteristics between those electing to receive ACMG secondary findings vs those declining
Measured: Baseline to 12 months postpartum
Pairwise correlations of each of the four-tiered consenting decisions
Pairwise correlations will be evaluated using responses collected through the structured consent administered at enrollment Outcome measures will include the proportion (%) of participants selecting each consent option and correlation coefficients describing relationships between consent decisions across tiers.
Measured: Baseline to 12 months postpartum
Frequency of false positive and negative GS results as assessed by one year of age
Measured: Baseline to 12 months postpartum
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 May 2026
- Study start29 Apr 2026
- Primary completion31 Jul 2029 (estimated)
- Study completion31 Jul 2029 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Prenatal Genetic DiagnosisStudies 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Non-randomised
- Intervention model
- Sequential
- Masking
- None (open label)
- Enrolment
- 1,042 participants (estimated)
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)
- Responsible party
- Principal investigator, Ronald J Wapner, MD, Columbia University
- Investigators
- Ronald Wapner, MD, Principal investigator, Columbia University Irving Medical Center (CUIMC)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07610590
- Sponsor's protocol ID
- ACYY0180
- Other IDs
- 2R01HD055651-16
- Acronym
- guideSEQ
- Status last verified
- May 2026
- First submitted
- 20 May 2026
- Last updated
- 15 Jul 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: In accordance with the NIH Genomic Data Sharing policy, sequencing data and clinical data will be shared with other scientific investigators.
Study at a glance
From the registry record, last updated by the sponsor on 15 Jul 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- guideSEQ: Genomic Understanding, Impact, Decision & Ethics in Prenatal Sequencing
- ClinicalTrials.gov ID
- NCT07610590
- Acronym / sponsor ID
- guideSEQ / ACYY0180
- Conditions
- Prenatal Genetic Diagnosis
- Keywords
- Genome Sequencing
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 1,042 participants (estimated)
- Lead sponsor
- Columbia UniversityUniversity, hospital or other
- Collaborators
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Study start
- 29 Apr 2026 (actual)
- Primary completion
- 31 Jul 2029 (estimated)
- Study completion
- 31 Jul 2029 (estimated)
- First posted
- 28 May 2026 (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 looks at whether genome sequencing should be used more routinely during pregnancy, even when ultrasounds look normal. Genome sequencing can examine nearly all of a baby's genes and may find genetic conditions that standard tests do not detect. Researchers will compare this test with current prenatal testing to see if it provides helpful information for families and doctors. The study will also explore how parents decide what kinds of genetic information they want to receive and how this information affects their experience during pregnancy. The goal is to understand whether genome sequencing can be used in a way that is helpful, responsible, and supportive for families in the future.
Detailed description
This multicenter, observational cohort study will evaluate prenatal sequencing among pregnancies with no fetal structural anomalies recruited at university based medical centers and evaluated at the New York Genome Center. Pregnancies with no fetal structural anomalies and meeting eligibility criteria will be enrolled into the study.
The prenatal sequencing group will be used to determine the frequency of pathogenic, likely pathogenic, and uncertain genomic variants identifiable by sequencing and the relative yield of sequencing. The prenatal sequencing group will be evaluated to understand the psychosocial needs of pregnant couples. Mothers, fathers and infants will be followed through 1 year postpartum.
The main objective of this multi-center collaborative study is to evaluate genome sequencing as a prenatal diagnostic tool in pregnancies with no known structural anomalies. Specifically, the aims are as follows:
Aim 1: Determine in pregnancies with a normal finding on ultrasound imaging, the frequency and types of fetal and maternal genetic conditions identified by GS, which impact clinical care. The goal is to understand the scope of these conditions, explore appropriate reporting criteria in pregnancy, and the role of genetic conditions in maternal morbidity and mortality.
Aim 2: Determine parental attitudes, choices, and the impact of offering prenatal whole genome sequencing as a genetic diagnostic screen in pregnancies with normal ultrasound anatomy. Clinician and community perspectives on the utility of prenatal GS as a non-invasive tool will be evaluated.
Aim 3: Expand the infrastructure for the standardized collection of prenatal genotype and phenotype data that is required to maximize future interpretive algorithms.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Non-randomised
- Intervention model
- Sequential
- Masking
- None (open label)
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (2 listed)
- Patient planned chorionic villus sampling (CVS) or amniocentesis in the absence of major fetal structural anomalies (minor anomalies are eligible, the HPO (Human Phenotype Ontology) will not be used by the analyst)
- Certified genetic counselor involved in care
Key exclusion criteria (4 listed)
- A major structural anomaly
- Maternal or paternal age less than 18 years old
- Parental unwillingness to participate in 1 year of postnatal follow-up
- Language barrier (non-English or Spanish speaking)
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 |
|---|---|---|
| Genome Sequencing (GS)Genome sequencing (GS) is a genetic test that involves reading the genome to identify genetic changes (also known as "genetic variants") that can cause differences in human development and disease. | Genetic | – |
Primary outcome
Incremental Genomic Frequency
Time frame: Baseline to 12 months postpartum.
The incremental frequency of fetal genetic conditions identified and reported by genomic sequencing (GS) compared to those found by standard-of-care (SOC) testing, including pathogenic, likely pathogenic, or variant of uncertain significance (VUS) variants identified by sequencing and deemed reportable by the Variant Adjudication Committee
23 secondary outcomes
Frequency and type of pathogenic and likely pathogenic (P/LP) genomic findings by SOC and GS independently
Time frame: Baseline to 12 months postpartum.
Percent and type of P/LP findings reported
Time frame: Baseline to 12 months postpartum.
Percent of fetal P/LP findings requiring adjudication
Time frame: Baseline to 12 months postpartum.
Turnaround time of SOC and GS testing
Time frame: Baseline to 12 months postpartum.
Frequency of reportable genomic findings in mother
Time frame: Baseline to 12 months postpartum.
Number of specialists added to the care of the pregnancy, delivery, and newborn care (as applicable) based on the reported genetic results
Time frame: Baseline to 12 months postpartum.
Frequency of participants electing to undergo standard vs tiered reporting
Time frame: Baseline to 12 months Postpartum
Comparison of the demographic characteristics between these two groups
Time frame: Baseline to 12 month Postpartum
Frequency of participants opting in to reporting of strong variants of uncertain Significance
Time frame: Baseline to 12 month postpartum
Frequency and type of strong VUS results amongst people who opt in to receiving them
Time frame: Baseline to 12 month postpartum
Frequency of VUS findings by SOC vs GS testing, amongst people who opt in to receiving them on GS
Time frame: Baseline to 12 months postpartum
Comparison of the demographic characteristics between those who opt in and those who opt out of receiving strong VUS results
Time frame: Baseline to 12 month postpartum
Frequency of participants opting out of reporting on copy number variants associated with susceptibility to neurodevelopmental disorders
Time frame: Baseline to 12 months postpartum
Comparison of demographic characteristics between those who opt in and those who opt out of receiving susceptibility CNV results
Time frame: Baseline to 12 month postpartum
Frequency of participants opting in to receive results for conditions up to and including age 18
Time frame: Baseline to 12 months postpartum
Frequency of reportable findings that may cause symptom presentation at any point during childhood (up to and including age 18) amongst those who opt in
Time frame: Baseline to 12 months postpartum
Comparison of the demographic characteristics between those who opt in to receive results with possible symptom presentation up to and including age 18 vs those who elect only reporting of variants with symptom presentation up to and including only age 7
Time frame: Baseline to 12 months postpartum
Frequency of participants electing to receive secondary findings per ACMG (American College of Medical Genetics) criteria
Time frame: Baseline to 12 months postpartum
Frequency of ACMG secondary findings amongst those who opt in
Time frame: Baseline to 12 months postpartum
Frequency of ACMG secondary findings that would have been reported regardless of this option given immediate implications for maternal health in the peripartum period
Time frame: Baseline to 12 months postpartum
Comparison of the demographic characteristics between those electing to receive ACMG secondary findings vs those declining
Time frame: Baseline to 12 months postpartum
Pairwise correlations of each of the four-tiered consenting decisions
Time frame: Baseline to 12 months postpartum
Frequency of false positive and negative GS results as assessed by one year of age
Time frame: Baseline to 12 months postpartum
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 15 Jul 2026.
- Individual participant dataSharing planned: Yes. In accordance with the NIH Genomic Data Sharing policy, sequencing data and clinical data will be shared with other scientific investigators.
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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.
Ronald Wapner, MD principal investigator
Columbia University Irving Medical Center (CUIMC)
3 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Genome Sequencing (GS) in people with Prenatal Genetic Diagnosis, run by Columbia University at 3 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 2 inclusion and 4 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: looking for participants now, as of the sponsor's last update on 15 Jul 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 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?
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?
Contact Camila Zarate, MPH (646-300-0197, cz2888@cumc.columbia.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Incremental Genomic Frequency (time frame: Baseline to 12 months postpartum.). 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 15 Jul 2026.