guideSEQ: Genomic Understanding, Impact, Decision & Ethics in Prenatal Sequencing
ConditionPrenatal Genetic Diagnosis
Trial statusRecruiting
Trial phaseNot applicable
Trial typeInterventional
Biological sexAll
Age18+
SponsorColumbia University
About this trial
This study looks at whether genome sequencing should be used more routinely during pregnancy, even when ultrasounds look normal. Genome sequencing can examine nearly all of a baby's genes and may find genetic conditions that standard tests do not detect. Researchers will compare this test with current prenatal testing to see if it provides helpful information for families and doctors. The study will also explore how parents decide what kinds of genetic information they want to receive and how this information affects their experience during pregnancy. The goal is to understand whether genome sequencing can be used in a way that is helpful, responsible, and supportive for families in the future.
Eligibility criteria
This trial accepts healthy volunteersQualifiers
Patient planned chorionic villus sampling (CVS) or amniocentesis in the absence of major fetal structural anomalies (minor anomalies are eligible, the HPO (Human Phenotype Ontology) will not be used by the analyst)
Certified genetic counselor involved in care
Disqualifiers
A major structural anomaly
Maternal or paternal age less than 18 years old
Parental unwillingness to participate in 1 year of postnatal follow-up
Language barrier (non-English or Spanish speaking)
Trial design
Design model
Sequential
Treatments tested in this trial
Genome Sequencing (GS)
GeneticGenome sequencing (GS) is a genetic test that involves reading the genome to identify genetic changes (also known as "genetic variants") that can cause differences in human development and disease.
Treatment groups
No treatment groups listed
Trial outcomes
Primary outcomes
1
Incremental Genomic Frequency
The incremental frequency of fetal genetic conditions identified and reported by genomic sequencing (GS) compared to those found by standard-of-care (SOC) testing, including pathogenic, likely pathogenic, or variant of uncertain significance (VUS) variants identified by sequencing and deemed reportable by the Variant Adjudication Committee
Time frame
Baseline to 12 months postpartum.Secondary outcomes
1
Frequency and type of pathogenic and likely pathogenic (P/LP) genomic findings by SOC and GS independently
Time frame
Baseline to 12 months postpartum.2
Percent and type of P/LP findings reported
Time frame
Baseline to 12 months postpartum.3
Percent of fetal P/LP findings requiring adjudication
Time frame
Baseline to 12 months postpartum.4
Turnaround time of SOC and GS testing
Time frame
Baseline to 12 months postpartum.Sponsors and contacts
Click on the lead sponsor to view all of their trials.
Columbia University
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Collaborator
Source ClinicalTrials.gov