Genomic Sequencing in Anatomically Normal Fetuses

This study is looking at how useful genomic sequencing (GS) is for pregnant individuals. If you are pregnant with a fetus that appears structurally normal and are already planning to have prenatal diagnostic testing like chorionic villus sampling or amniocentesis with a standard chromosomal microarray, you might be able to join. The study offers GS as an additional test to look for specific genetic conditions that could affect your baby's health. The main goal is to see how often GS finds genetic changes that are known to cause disease. You must be between 18 and 64 years old to participate. The study aims to enroll 1000 participants, but its current recruitment status is unclear.

Study design
This is an interventional study that plans to enroll 1000 participants. It is not specified if it is randomized or blinded.
What's involved
You would undergo prenatal diagnostic testing (chorionic villus sampling or amniocentesis) and have genomic sequencing performed. Blood or saliva samples will also be collected from both parents.
Compensation
Not stated in the trial record.
Follow-up
The primary endpoint, detection of pathogenic or likely pathogenic variants, is measured up to 2 months after enrollment.

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NCT06211348

Genomic Sequencing in Anatomically Normal Fetuses

Recruiting
NAAges 18–64InterventionalDiagnostic
University of California, San Francisco
~1,000 participants
Updated 2026-04-08 on ClinicalTrials.gov
What's tested:Genomic Sequencing

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Detection of pathogenic or likely pathogenic variants with genomic sequencing
Measured over Up to 2 months after enrollment
Pregnant Individuals Requesting Standard Microarray
1 sites across 1 states
California1
  • Mary Norton, MD · PRINCIPAL_INVESTIGATOR · University of California, San Francisco

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Eligibility criteria

Inclusion

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

Decline prenatal diagnostic testing
Are pregnant and their fetus has a known anomaly
Declined chromosomal microarray analysis of expanded carrier screening
  • Detection of pathogenic or likely pathogenic variants with genomic sequencingUp to 2 months after enrollment

    Proportion of positive genetic diagnosis among all pregnancies with anatomically normal fetuses