Recruiting

Genome Sequencing

Sponsor:

Columbia University

Code:

NCT07610590

Conditions

Prenatal Genetic Diagnosis

Eligibility Criteria

Sex: All

Age: 18+

Healthy Volunteers: Accepted

Interventions

Genome Sequencing (GS)

Study Details

Brief 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.

Conditions

Prenatal Genetic Diagnosis

Study ID

NCT07610590

Start date

Apr 29, 2026

Status verified date

May, 2026

Completion date

Jul 31, 2029

Anticipated

Primary completion date

Jul 31, 2029

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 18+

Healthy Volunteers: Accepted

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)

Study Design

Enrollment

1042 participants

Anticipated

Allocation

Non randomized

Intervention Model

Sequential

Primary purpose

Diagnostic

Interventions and Outcome Measures

Interventions

Genome 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.

Primary outcome measure

  • Incremental Genomic Frequency [ Time Frame: Baseline to 12 months postpartum. ]

Central Contacts and Locations

Central contacts

Camila Zarate, MPH

646-300-0197cz2888@cumc.columbia.edu

Jessica Giordano, MS, CGC

516-521-5604jlg2197@cumc.columbia.edu

Locations

Columbia University Irving Medical Center (CUIMC)

Recruiting

New York, New York, United States, 10032

Contacts

Camila Zarate, MPH

646-300-0197cz2888@cumc.columbia.edu

Jessica Giordano, MS, CGC

516-521-5604jlg2197@cumc.columbia.edu

Principal Investigator:

Ronald Wapner, MD

More Information

Sponsor

Columbia University

Last update posted

Jul 15, 2026

Last verified

May, 2026

Keywords

  • Genome Sequencing

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Columbia University on 2026-07-15.