Genomic Sequencing for Evaluation of Fetal Structural Anomalies
Enrolling by invitation · Not applicable
Conditions studied: Fetal Structural Anomalies
In brief
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.
Key facts
- Study ID
- NCT06054230
- Run by
- University of California, San Francisco
- People needed
- 500
- Starts
- 2023-09-18
- Expected to finish
- 2030-07-15
- Last updated by the study team
- 2026-04-17
Who can join
Age: 18 and older, up to 64. Sex: any. Healthy volunteers: accepted.
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)
Where it is running
- University of California, San Francisco — San Francisco, California, United States
Full record on ClinicalTrials.gov
Trial information comes from ClinicalTrials.gov and is refreshed daily. TrialsForMe does not provide medical care and does not run the studies it lists.