Clinical Trial Details
— Status: Enrolling by invitation
Administrative data
| NCT number |
NCT06054230 |
| Other study ID # |
22-36483 |
| Secondary ID |
|
| Status |
Enrolling by invitation |
| Phase |
N/A
|
| First received |
|
| Last updated |
|
| Start date |
September 18, 2023 |
| Est. completion date |
July 15, 2030 |
Study information
| Verified date |
January 2024 |
| Source |
University of California, San Francisco |
| Contact |
n/a |
| Is FDA regulated |
No |
| Health authority |
|
| Study type |
Interventional
|
Clinical Trial 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.
Description:
Over the last several years, UCSF providers in the Fetal Treatment Center (FTC) and Prenatal
Diagnosis Center (PDC) have been conducting genomic sequencing research studies for prenatal
cases of fetal structural anomalies and pregnancy complications. This study seeks to build on
preliminary work by our team at UCSF.
The investigators will study:
A. The effectiveness of sequencing as a tool for diagnosing the underlying genetic cause in
fetuses with structural anomalies B. The prenatal presentation of genetic diseases and how
genetic variants may be associated with specific fetal phenotypes C. How identifying a
genetic diagnosis can help providers predict prognosis, counsel patients, and provide focused
antenatal and postnatal management of the fetus/infant D. How patients and families
understand and benefit from identifying an underlying genetic diagnosis in a pregnancy with
fetal structural anomalies
Specific Aims:
A. Demonstrate the effectiveness of sequencing as a tool for diagnosing the underlying
genetic cause in fetuses with structural anomalies B. Define the prenatal presentation of
genetic diseases and how genetic variants may be associated with specific fetal phenotypes C.
Determine how identifying a genetic diagnosis can help providers predict prognosis, counsel
patients, and provide focused antenatal and postnatal management of the fetus/infant D.
Identify how patients and families understand and benefit from identifying an underlying
genetic diagnosis in a pregnancy with fetal structural anomalies
This study follows an observational prospective cohort design. Patients with fetal structural
anomalies are routinely offered diagnostic testing with chorionic villus sampling or
amniocentesis. Patients 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. Patients who
decline prenatal 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. Blood or saliva samples
will be collected on both parents, when possible, to allow the option of trio ES/GS or for
follow up Sanger sequencing on these specimen determining inheritance of any potentially
significant fetal variants that are identified. Patients will be asked to accept or decline
analysis for secondary findings, as recommended by the American College of Medical Genetics
and Genomics.Exome and genome sequencing will be performed in the UCSF clinical Genomic
Medicine Laboratory, and patients will receive results through the CLIA certified clinical
laboratory. Patients will be managed as per usual clinical protocols. Clinical data will be
collected regarding the pregnancy, delivery, neonatal and early childhood outcomes.
