guideSEQ: Genomic Understanding, Impact, Decision & Ethics in Prenatal Sequencing
Columbia University
1,042 participants
Apr 29, 2026
OBSERVATIONAL
Conditions
Summary
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
Inclusion Criteria2
- 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
Exclusion Criteria4
- 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)
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Interventions
Genome 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.
Locations(3)
View Full Details on ClinicalTrials.gov
For the most up-to-date information, visit the official listing.
NCT07610590