About this trial
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 criteria
Qualifiers
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
Disqualifiers
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)
Trial design
Treatments tested in this trial
- Genome Sequencing (GS)
Treatment groups
Sponsors and collaborators
Columbia University
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Collaborator