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Genomic Sequencing for Evaluation of Fetal Structural Anomalies

NCT06054230 · Status: ENROLLING_BY_INVITATION · Phase: NA · Type: INTERVENTIONAL · Enrollment: 500

Last updated 2026-04-17

No results posted yet for this study

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

Interventions

DEVICE

Genomic Sequencer

Genomic Sequencing Device

Sponsors & Collaborators

Principal Investigators

  • Mary Norton, MD · University of California, San Francisco

Study Design

Allocation
NA
Purpose
DIAGNOSTIC
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
18 Years
Max Age
64 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2023-09-18
Primary Completion
2030-07-15
Completion
2030-07-15
FDA Device
Yes

Countries

  • United States

Study Locations

More Related Trials

Entities

Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06054230 on ClinicalTrials.gov