Genome sequencing in pregnancy with normal ultrasound to see if more information helps families

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This multicenter study observes how prenatal whole genome sequencing performs in pregnancies without fetal structural anomalies. It compares sequencing results to standard prenatal testing to understand what additional variants might be found and how these findings could affect clinical care. The study also explores how parents decide what genetic information to receive and how it impacts their pregnancy experience, with follow-up through one year after birth. Researchers will examine the frequency of pathogenic or uncertain variants and the psychosocial needs of parents. Participants include pregnancies undergoing CVS or amniocentesis with eligible criteria and involve certified genetic counselors in care.

Why it matters

Who can join: the full rules

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)

Where it's running

• Columbia University Irving Medical Center (CUIMC)
  New York, New York, United States Recruiting
• Boston Childrens Hospital
  Boston, Massachusetts, United States Active not recruiting
• New York Genome Center
  New York, New York, United States Active not recruiting

Study contacts

• Principal investigator: Ronald Wapner, MD — Columbia University Irving Medical Center (CUIMC)
• Study coordinator: Camila Zarate, MPH
• Email: cz2888@cumc.columbia.edu
• Phone: 646-300-0197

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.