RecruitingNCT07610590

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


Sponsor

Columbia University

Enrollment

1,042 participants

Start Date

Apr 29, 2026

Study Type

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

Min Age: 18 Years

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

GENETICGenome Sequencing (GS)

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)

Boston Childrens Hospital

Boston, Massachusetts, United States

New York Genome Center

New York, New York, United States

Columbia University Irving Medical Center (CUIMC)

New York, New York, United States

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NCT07610590