Genomic Sequencing for Evaluation of Fetal Structural Anomalies

NCT06054230 | Enrolling By Invitation FDA Device

• 1 other identifier: 22-36483
• Study Type: interventional
• Target: 500
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Fetal Structural Anomalies

Outcome Measures

Primary Outcomes (1)

• Diagnostic yield of prenatal genomic sequencing

  Number of cases with a positive finding among all cases tested

  Up to three months

Study Arms (1)

Genomic Sequencing

EXPERIMENTAL

Device: Genomic Sequencer

Interventions

Genomic Sequencer DEVICE

Genomic Sequencing Device

Genomic Sequencing

Eligibility Criteria

• Age: 18 Years - 64 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64)

You may qualify if:

• Pregnant individual \>18 years of age
• Pregnant with a fetus (singleton or multiple gestation) affected by one or more fetal anomalies, unexplained fetal death after 14 wks, unexplained severe fetal growth restriction (\< 3%ile), unexplained severe polyhydramnios

You may not qualify if:

• Declines diagnostic testing with karyotype or microarray
• Fetal anomaly explained by other testing (viral infection, aneuploidy or copy number variant detected by microarray)

Sponsors & Collaborators

• University of California, San Francisco: lead

Study Sites (1)

University of California, San Francisco

San Francisco, California, 94143, United States

Location

Study Officials

• Mary Norton, MD

  University of California, San Francisco

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 19, 2023
• First Posted: September 26, 2023
• Study Start: September 18, 2023
• Primary Completion (Estimated): July 15, 2030
• Study Completion (Estimated): July 15, 2030
• Last Updated: April 17, 2026

Record last verified: 2026-04

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)