Genomic Sequencing in Anatomically Normal Fetuses

Not Applicable

Recruiting

• Conditions: Pregnant Individuals Requesting Standard Microarray
• Interventions: Device: Genomic Sequencing

• Registration Number: NCT06211348
• Lead Sponsor: University of California, San Francisco

Brief Summary

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.

Detailed Description

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.

Study Timeline

• Study Start: 2024-01-01
• Study First Submitted: 2024-01-08
• Study First Submitted QC: 2024-01-08
• Study First Posted: 2024-01-18
• Status Verified: 2025-04
• Last Update Submitted: 2025-04-02
• Last Update Posted: 2025-04-06
• Primary Completion: 2029-01
• Study Completion: 2030-01

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 1000

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

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
Genomic Sequencing	Genomic Sequencing	-

Primary Outcome Measures

Name	Time	Method
Detection of pathogenic or likely pathogenic variants with genomic sequencing	Up to 2 months after enrollment	Proportion of positive genetic diagnosis among all pregnancies with anatomically normal fetuses

Trial Locations

Locations (1)

University of California, San Francisco; 🇺🇸 San Francisco, California, United States