guideSEQ: Genomic Understanding, Impact, Decision & Ethics in Prenatal Sequencing

Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
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

Qualifiers

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

Treatments tested in this trial

  • Genome Sequencing (GS)

Treatment groups

No treatment groups listed

Sponsors and collaborators

Columbia University

Lead sponsor

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Collaborator