Genomic sequencing for normal fetuses in prenatal testing
Genomic Sequencing in Anatomically Normal Fetuses
This study is testing whether genomic sequencing can help pregnant individuals understand more about potential genetic risks for their baby during routine prenatal testing.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 1000 (estimated) |
| Ages | 18 Years to 64 Years |
| Sex | All |
| Sponsor | University of California, San Francisco Academic / other |
| Locations | 1 site (San Francisco, California) |
| Trial ID | NCT06211348 on ClinicalTrials.gov |
What this trial studies
This cohort study explores the clinical utility of genomic sequencing (GS) for pregnant individuals undergoing prenatal diagnostic procedures, specifically those requesting standard chromosomal microarray testing. Participants will be offered GS to assess additional disease risks, focusing on single gene disorders from a curated list developed by experts. The study aims to provide insights into the implications of GS results for pregnancy management, including potential termination, and will involve analysis of parental samples to understand inheritance patterns. The findings are intended to contribute to the evidence base regarding GS in prenatal care.
Who should consider this trial
Good fit: Ideal candidates are pregnant individuals with structurally normal fetuses who are planning to undergo prenatal diagnostic testing.
Not a fit: Patients who decline prenatal diagnostic testing or have a fetus with a known anomaly may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could enhance prenatal care by identifying additional genetic risks, allowing for informed decision-making during pregnancy.
How similar studies have performed: Other studies have shown promise in using genomic sequencing for prenatal diagnostics, indicating potential for success in this approach.
Eligibility criteria
Show full inclusion / exclusion criteria
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
Where this trial is running
San Francisco, California
- University of California, San Francisco — San Francisco, California, United States (Recruiting)
Study contacts
- Principal investigator: Mary Norton, MD — University of California, San Francisco
- Study coordinator: Nuriye Sahin Hodoglugil, DrPH
- Email: Nuriye.Sahin-Hodoglugil@ucsf.edu
- Phone: 415-353-3400
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.