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

Conditions

• Prenatal Genetic Diagnosis

Eligibility Criteria

Sex

ALL

Age

18 Years - N/A

Healthy Volunteers

Accepted

Interventions

• Genome Sequencing (GS) — GENETIC
  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.

Study Details

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.

Key Dates

Start date

Apr 29, 2026

Status verified

May 2026

Primary completion

Jul 31, 2029

Completion

Jul 31, 2029

Study Design

Enrollment

1,042 participants (estimated)

Primary Outcome Measure

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

Central Contacts

• Camila Zarate, MPH
  646-300-0197
  [email protected]
• Jessica Giordano, MS, CGC
  516-521-5604
  [email protected]

Locations (3)

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