At a glance
ClinicalIndex Comparison Record- ✓Fetus with at least one major structural anomaly, nuchal translucency ≥3.5 mm, or intrauterine growth restriction <5th percentile without maternal hypertension/diabetes (all <24 weeks gestation)
- ✓Negative prenatal chromosomal microarray analysis (CMA) or CMA findings unrelated to ultrasound abnormality (sequencing group only)
- ✓Singleton or twin gestation (sequencing group); singleton gestation only (unsequenced group)
- ✓Gestational age less than 36 weeks 0 days at enrollment
- ✕Prior prenatal sequencing or gene panel testing performed inside or outside the study
- ✕Maternal or paternal age less than 18 years old
- ✕Proven infectious or teratogenic cause of fetal anomaly
- ✕Planned termination of pregnancy
Standardized by ClinicalIndex from the ClinicalTrials.gov record · verify against the source.
Prenatal Genetic Diagnosis by Genomic Sequencing: A Prospective Evaluation
In Brief
An observational study evaluating Prenatal Genomic Sequencing for Fetal Structural Anomalies. Completed, enrolled 1,097 participants across 5 sites.
Detailed Summary
This study is evaluating the impact of prenatal sequencing on the management of fetuses with ultrasound abnormalities. The hypothesis is that a significant subset of fetal abnormalities have a genetic cause that can be identified by sequencing and that prenatal knowledge of this information will improve prenatal care, reduce unnecessary diagnostic testing, reduce the cost of care, and improve the quality of life for both the child and the family.
Study Details
Timeline
Interventions
Whole genome sequencing (which initially will be masked and reported as exome only)