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

RecruitingHealthy volunteers welcome

Who can join

Ages 18 and older · All sexes · Healthy volunteers welcome

Full eligibility criteria
Inclusion Criteria:

* 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 Criteria:

* 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)

About the study

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.

What is being tested

Sponsor: Columbia University · Participants: 1,042 · Started: Apr 29, 2026

Contact the study team

Official record on ClinicalTrials.gov — NCT07610590

Locations in the U.S.

New YorkColumbia University Irving Medical Center (CUIMC), New York

From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.