NCT06054230

Genomic Sequencing for Evaluation of Fetal Structural Anomalies

ENROLLING BY INVITATION NA Last updated 17 April 2026

What this trial tests

NA trial testing Genomic Sequencer in Fetal Structural Anomalies in 500 participants. Enrolling by invitation.

Timeline

18 September 2023

Primary endpoint
15 July 2030

15 July 2030

Quick facts

Lead sponsor	University of California, San Francisco
Phase	NA
Status	ENROLLING BY INVITATION
Study type	INTERVENTIONAL
Allocation	na
Design	single group
Masking	none
Primary purpose	diagnostic
Enrollment	500
Start date	18 September 2023
Primary completion	15 July 2030
Estimated completion	15 July 2030
Sites	1 location across United States

Drugs / interventions tested

• Genomic Sequencer

Conditions studied

• Fetal Structural Anomalies — all drugs for Fetal Structural Anomalies →

Sponsor

University of California, San Francisco

Who can join

Adults 18 to 64, any sex, with Fetal Structural Anomalies. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

This study follows an observational prospective cohort design. Women with fetal structural anomalies are routinely offered diagnostic testing with chorionic villus sampling or amniocentesis, with analysis for chromosomal analysis using karyotype or microarray analysis. Women in whom such testing does not explain the fetal phenotype, or in whom a genetic disease is strongly suggested based on the phenotype or a pattern of recurrent anomalies, will be offered exome sequencing (ES) and/or genome sequencing (GS) through the UCSF CLIA certified Genomic Medicine Laboratory. In advance of study enrollment, patients have been counseled regarding the structural anomalies in the fetus and offered pregnancy termination. The sequencing results for on-going pregnancies have a turnaround time of 2-4 weeks, and in the majority of cases are available after decisions have been made regarding continuation or termination of pregnancy.

Patients who decline diagnostic testing but who have a prenatally identified anomaly may be offered the option of testing on umbilical cord blood at delivery or on the placenta or other products of conception after a stillbirth or pregnancy termination. The project is exploratory in nature, with the ultimate goal of contributing to a growing body of phenotypic data and understanding how providers and patients utilize genomic (either exome or genome) sequencing results during pregnancy.

Publications & conference data

No peer-reviewed publications indexed yet for this trial.