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ClinicalTrials.gov public records Last synced Oct 23, 2026, 10:37 AM EDT

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Showing 1–15 of 15 matching trials from the live ClinicalTrials.gov search.
Filters: Intervention: Prenatal Genomic Sequencing Clear all
Completed No phase listed Observational Accepts healthy volunteers Results available

Prenatal Genetic Diagnosis by Genomic Sequencing

NCT03936101
View directory record Official record
Conditions
Fetal Structural Anomalies
Interventions
Prenatal Genomic Sequencing
Diagnostic Test
Lead sponsor
Columbia University
Other
Eligibility
18 Years and older
Enrollment
1,097 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019 – 2024
U.S. locations
5
States / cities
New York, New York • Chapel Hill, North Carolina • Cincinnati, Ohio + 1 more
Source: ClinicalTrials.gov public record
Updated Oct 27, 2025 · Synced Oct 23, 2026, 10:37 AM EDT
Withdrawn No phase listed Observational Accepts healthy volunteers

Implications of Maternal 45,X Mosaicism as a Secondary Genomic Finding Following Cell-Free DNA Sequencing During Pregnancy: A Deep Phenotype Study

NCT05548881
View directory record Official record
Conditions
Cardiovascular Phenotype, Metabolic Phenotype, Hypertensive Disease, Psychological Phenotype, Audio
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
18 Years to 99 Years · Female only
Healthy volunteers
Accepts healthy volunteers
Timeline
2025
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Apr 2, 2025 · Synced Oct 23, 2026, 10:37 AM EDT
Completed No phase listed Observational

Clinical Performance of NIPT in Multiple Gestation Pregnancies

NCT04488393
View directory record Official record
Conditions
Trisomy 21 in Fetus
Interventions
MaterniT21 PLUS and GENOME Laboratory-Developed Tests
Device
Lead sponsor
University of Pennsylvania
Other
Eligibility
18 Years and older · Female only
Enrollment
2,000 participants
Timeline
2020 – 2022
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Dec 7, 2022 · Synced Oct 23, 2026, 10:37 AM EDT
Active, not recruiting Not applicable Interventional

Hydrops: Diagnosing & Redefining Outcomes With Precision Study

NCT03412760
View directory record Official record
Conditions
Hydrops Fetalis, Birth Defect, Fetal Anomaly
Interventions
Exome sequencing
Diagnostic Test
Lead sponsor
University of California, San Francisco
Other
Eligibility
18 Years to 55 Years
Enrollment
500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2027
U.S. locations
1
States / cities
San Francisco, California
Source: ClinicalTrials.gov public record
Updated Apr 17, 2026 · Synced Oct 23, 2026, 10:37 AM EDT
Completed No phase listed Observational

Whole Exome Sequencing and Whole Genome Sequencing for Nonimmune Fetal/Neonatal Hydrops

NCT03911531
View directory record Official record
Conditions
Nonimmune Fetal Hydrops, Nonimmune Hydrops in Neonate, Genetic Disorders
Interventions
Whole Exome Sequencing, Whole Genome Sequencing
Diagnostic Test
Lead sponsor
Thomas Jefferson University
Other
Eligibility
16 Years to 55 Years
Enrollment
55 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2025
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jul 14, 2026 · Synced Oct 23, 2026, 10:37 AM EDT
Not listed Not applicable Interventional

The Sequencing for Detection in Congenital Heart Disease (SD-CHD) Study

NCT06244940
View directory record Official record
Conditions
Congenital Heart Disease
Interventions
Whole Genome Sequencing (WGC) from subject samples
Diagnostic Test
Lead sponsor
Scripps Translational Science Institute
Other
Eligibility
18 Years and older · Female only
Enrollment
200 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2026
U.S. locations
1
States / cities
San Diego, California
Source: ClinicalTrials.gov public record
Updated Feb 13, 2024 · Synced Oct 23, 2026, 10:37 AM EDT
Enrolling by invitation Not applicable Interventional

Uncovering the Etiologies of Non-immune Hydrops Fetalis

NCT05528796
View directory record Official record
Conditions
Non-Immune Hydrops Fetalis
Interventions
Whole genome sequencing
Diagnostic Test
Lead sponsor
University of California, San Francisco
Other
Eligibility
18 Years to 60 Years
Enrollment
500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2027
U.S. locations
1
States / cities
San Francisco, California
Source: ClinicalTrials.gov public record
Updated Apr 17, 2026 · Synced Oct 23, 2026, 10:37 AM EDT
Completed No phase listed Observational

Pregnant Women s Views About the Ethics of Prenatal Whole Genome Sequencing

NCT03105492
View directory record Official record
Conditions
Pregnant
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years to 50 Years · Female only
Enrollment
553 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2019
U.S. locations
1
States / cities
Falls Church, Virginia
Source: ClinicalTrials.gov public record
Updated Apr 22, 2019 · Synced Oct 23, 2026, 10:37 AM EDT
Enrolling by invitation Not applicable Interventional Accepts healthy volunteers

Genomic Sequencing for Evaluation of Fetal Structural Anomalies

NCT06054230
View directory record Official record
Conditions
Fetal Structural Anomalies
Interventions
Genomic Sequencer
Device
Lead sponsor
University of California, San Francisco
Other
Eligibility
18 Years to 64 Years
Enrollment
500 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2023 – 2030
U.S. locations
1
States / cities
San Francisco, California
Source: ClinicalTrials.gov public record
Updated Apr 17, 2026 · Synced Oct 23, 2026, 10:37 AM EDT
Recruiting Not applicable Interventional Accepts healthy volunteers

Genomic Sequencing in Anatomically Normal Fetuses

NCT06211348
View directory record Official record
Conditions
Pregnant Individuals Requesting Standard Microarray
Interventions
Genomic Sequencing
Device
Lead sponsor
University of California, San Francisco
Other
Eligibility
18 Years to 64 Years
Enrollment
1,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2024 – 2030
U.S. locations
1
States / cities
San Francisco, California
Source: ClinicalTrials.gov public record
Updated Apr 8, 2026 · Synced Oct 23, 2026, 10:37 AM EDT
Not listed Not applicable Interventional Results available

Perinatal Precision Medicine

NCT03211039
View directory record Official record
Conditions
Genetic Diseases, Genetic Syndrome, Mendelian Disorders
Interventions
Genomic sequencing and molecular diagnostic results, if any.
Genetic
Lead sponsor
Rady Pediatric Genomics & Systems Medicine Institute
Other
Eligibility
Up to 4 Months
Enrollment
213 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2024
U.S. locations
1
States / cities
San Diego, California
Source: ClinicalTrials.gov public record
Updated Mar 1, 2024 · Synced Oct 23, 2026, 10:37 AM EDT
Withdrawn Not applicable Interventional Accepts healthy volunteers

Development of an Optimal Approach to Return of Results for Next-generation Sequencing for Prenatal Diagnosis

NCT02255825
View directory record Official record
Conditions
Major Fetal Anomaly
Interventions
Whole Genome Sequencing, Amniocentesis, Psychosocial assessment
Genetic · Procedure · Other
Lead sponsor
University of California, San Diego
Other
Eligibility
18 Years and older
Healthy volunteers
Accepts healthy volunteers
Timeline
2014 – 2019
U.S. locations
1
States / cities
San Diego, California
Source: ClinicalTrials.gov public record
Updated Jun 6, 2019 · Synced Oct 23, 2026, 10:37 AM EDT
Completed Not applicable Interventional Results available

Clinical Utility of Prenatal Whole Exome Sequencing

NCT03482141
View directory record Official record
Conditions
Structural Anomalies, Cardiac Anomalies, Central Nervous System Anomalies, Thorax Anomalies, Genito-urinary Anomalies, Gastrointestinal Anomalies, Skeletal Anomalies, Multiple Anomalies
Interventions
Whole Exome Sequencing (WES)
Device
Lead sponsor
University of California, San Francisco
Other
Eligibility
18 Years to 64 Years · Female only
Enrollment
316 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2022
U.S. locations
1
States / cities
San Francisco, California
Source: ClinicalTrials.gov public record
Updated Apr 14, 2023 · Synced Oct 23, 2026, 10:37 AM EDT
Completed Not applicable Interventional Results available

Clinical Utility of Pediatric Whole Exome Sequencing

NCT03525431
View directory record Official record
Conditions
Encephalopathy, Birth Defect, Intellectual Disability, Multiple Congenital Anomaly, Metabolic Disease, Epilepsy, Neuro-Degenerative Disease, Cerebral Palsy, Developmental Delay, Developmental Defect
Interventions
Whole Exome Sequencing
Diagnostic Test
Lead sponsor
University of California, San Francisco
Other
Eligibility
Up to 25 Years
Enrollment
529 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2022
U.S. locations
4
States / cities
Fresno, California • Oakland, California • San Francisco, California
Source: ClinicalTrials.gov public record
Updated Jul 18, 2023 · Synced Oct 23, 2026, 10:37 AM EDT
Recruiting Not applicable Interventional Accepts healthy volunteers

guideSEQ: Genomic Understanding, Impact, Decision & Ethics in Prenatal Sequencing

NCT07610590
View directory record Official record
Conditions
Prenatal Genetic Diagnosis
Interventions
Genome Sequencing (GS)
Genetic
Lead sponsor
Columbia University
Other
Eligibility
18 Years and older
Enrollment
1,042 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2026 – 2029
U.S. locations
3
States / cities
Boston, Massachusetts • New York, New York
Source: ClinicalTrials.gov public record
Updated Jul 15, 2026 · Synced Oct 23, 2026, 10:37 AM EDT