N/A
Completed N=316
Clinical Utility of Prenatal Whole Exome Sequencing
Structural Anomalies · Cardiac Anomalies · Central Nervous System Anomalies · Thorax Anomalies
Source: ClinicalTrials.gov NCT03482141 ↗
Enrolled (actual)
316
Serious AEs
0.0%
Results posted
Apr 2023
Primary outcomePrimary: Diagnostic Yield of Prenatal Exome in Patients With Fetal Structural Anomalies — 60 Participants
Summary
The investigator aims to examine the clinical utility of WES, including assessment of a variety of health-related and reproductive outcomes in undiagnosed prenatal cases.
Outcome Measures
| Outcome | Result | p-value |
|---|---|---|
| PRIMARY Diagnostic Yield of Prenatal Exome in Patients With Fetal Structural Anomalies |
60 | — |
Eligibility Criteria
Inclusion Criteria
- Women carrying a pregnancy with an ultrasound diagnosis of a major structural anomaly (or multiple anomalies) in a major organ system (cardiac, central nervous system, thorax, genito-urinary, gastrointestinal/ventral wall, skeletal and or multiple anomalies )
- Clinical concern for a potential underlying genetic condition
- Completed or plan to complete chorionic villus sampling or amniocentesis with chromosome analysis or microarray
- Available maternal sample
Exclusion Criteria
- Prior WES performed for a clinical or research indication
- Lack of phenotypic indication of a likely underlying genetic etiology
- Mother unwilling or unable to provide a specimen
Data sourced from ClinicalTrials.gov (NCT03482141). Outcome figures and adverse-event rates are extracted automatically from the registry's posted results and are provided for clinician reference, not as a substitute for the primary publication. Informational only — not medical advice.