University of California, San Francisco
San Francisco, California, 94143, United States
Location status: Recruiting
Recruiting
NCT Number: NCT06211348
Genomic Sequencing in Anatomically Normal Fetuses
This cohort study will examine the clinical utility of genomic sequencing (GS) in patients undergoing prenatal diagnostic procedures (chorionic villus sampling or amniocentesis) for routine indications other than a structural fetal anomaly.
Recruiting
Interested in participating?
Request InfoKey information
Age range
18 year–64 year
Sex eligibility
All sexes
Study type
Interventional
Phase
Not applicable
Primary location
About this study
Individuals who request prenatal diagnostic testing with standard chromosomal microarray will be offered GS as an option to assess for additional disease risk. The GS will be limited to evaluation of single gene disorders on a curated gene list developed by our multidisciplinary team of experts. This will include only pathogenic or likely pathogenic variants in genes associated with conditions with a well-defined phenotype that may include cognitive impairment or debilitating health conditions in childhood and/or conditions that will impact maternal, fetal, neonatal, or early childhood health management with significant perinatal or pediatric morbidity or mortality. GS test results will be reported to the research participant by a clinical geneticist or genetic counselor with expertise in exome sequencing. Participants may use this information for pregnancy management including termination of pregnancy. Participants will be offered analysis for secondary findings, as recommended by the American College of Medical Genetics and Genomics. Analysis and reporting of GS will be performed by the UCSF CLIA-certified Genomic Medicine Laboratory. Blood or saliva samples will be collected on both parents to allow trio GS to determine inheritance of any potentially significant fetal variants.
The project is exploratory in nature, with a goal of contributing to a growing body of evidence regarding the clinical utility of GS in the prenatal population.
Who can participate
Healthy volunteers accepted: Yes
Only the study team can determine whether someone qualifies for participation.
Inclusion criteria
Pregnant patients who are:
- Pregnant with a structurally normal fetus (singleton or multiple gestation)
- Planning to undergo prenatal diagnosis by either chorionic villus sampling or amniocentesis with chromosome microarray analysis for routine indications
- Planning, or have already completed expanded carrier screening
Exclusion criteria
Pregnant patients who:
- Decline prenatal diagnostic testing
- Are pregnant and their fetus has a known anomaly
- Declined chromosomal microarray analysis of expanded carrier screening
Treatment and study plan
Genomic Sequencing
DeviceIndividuals who request prenatal diagnostic testing with standard chromosomal microarray will be offered genomic sequencing (GS) as an option to assess for additional disease risk.
Primary outcomes
-
Detection of pathogenic or likely pathogenic variants with genomic sequencing
Time frame: Up to 2 months after enrollment
Proportion of positive genetic diagnosis among all pregnancies with anatomically normal fetuses
Study contacts
Contact information is provided by the study sponsor or research team.
Sponsors and collaborators
Lead sponsor
University of California, San Francisco
Other
Registry information
Important dates
- Study start
- 2024
- Primary completion
- 2029
- Study completion
- 2030
- First posted
- Jan 18, 2024
- Registry last updated
- Apr 8, 2026
OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.
View the official ClinicalTrials.gov record (opens in a new tab)This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.