NCT03936101|CompletedResults
Prenatal Genetic Diagnosis by Genomic Sequencing
PrenatalSEQ
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PrenatalSEQ
Sponsor study identifier
Secondary identifiers
NIH
observational
1,097
1 country
5
Study Start
June 28, 2019
Actual (reported)Primary Completion
March 25, 2024
Actual (reported)Study Completion
March 25, 2024
Actual (reported)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.
Registry-reported information. Elapsed time and enrollment totals alone do not measure study progress or recruitment pace.
March 25, 2024
Actual (reported)Click on a node to explore related trials.
Some registry-reported names shown below are not yet linked in this graph.
Dates and qualifiers reported by the registry. Estimated dates do not confirm that a milestone has occurred.
March 25, 2019
Actual (reported)May 3, 2019
Actual (reported)June 28, 2019
Actual (reported)March 25, 2024
Actual (reported)March 25, 2024
Actual (reported)October 27, 2025
Actual (reported)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.
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.
From time of diagnosis of anomaly to infant discharge
Gestational Age at Delivery
At time of delivery
Neonatal Outcomes
Up to 28 days after birth
Number of Deaths
From discharge to 12 months postpartum
NICU Stay Duration
From discharge to 12 months postpartum
Length in Centimeters
12 months postpartum
750 trios with fetal structural anomalies who receive prenatal sequencing from the study
350 trios with fetal structural anomalies who do not have prenatal sequencing
Whole genome sequencing (which initially will be masked and reported as exome only)
Registry-reported names are shown in full. Names without a link have not yet been matched to a Syfrah profile.
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).
Columbia University Medical Center
New York, New York, 10032, United States
University of North Carolina Chapel Hill
Chapel Hill, North Carolina, 27514, United States
Children's Hospital, Cincinnati Medical Center
Cincinnati, Ohio, 45229, United States
Baylor College of Medicine
Houston, Texas, 77030, United States
UT Health Houston
Houston, Texas, 77030, United States
Remaining DNA from trios will be stored in a biorepository. Plasma from Streck tubes will be retained as well.
Ronald Wapner, MD
Columbia University
1,097 participants (actual enrollment reported by the registry).
First Submitted
March 25, 2019
First Posted
May 3, 2019
Study Start
June 28, 2019
Actual (reported)Contact the study team to confirm eligibility.
Primary Completion
March 25, 2024
Actual (reported)Study Completion
March 25, 2024
Actual (reported)Last Updated
October 27, 2025
Results First Posted
October 27, 2025
Record last verified: 2025-10
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.
Download the complete ClinicalTrials.gov record imported by Syfrah, including fields not shown in this page. The registry may contain a newer revision.
Source: ClinicalTrials.gov.
JSON downloads include source attribution and retrieval details alongside the unchanged original record or the separately normalized values.
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