GenomeDx™ Prenatal Trio
Use
This prenatal trio test—GenomeDx™ Prenatal Trio—is intended for comprehensive genomic analysis when fetal anomalies are detected via ultrasound and chromosomal microarray (CMA) and karyotype are non‑diagnostic. Incorporating parental and proband data maximizes diagnostic yield and improves variant classification to inform prenatal decision‑making.
Special Instructions
Requires sample collection from proband (fetal DNA via amniotic fluid, chorionic villi, products of conception, or extracted DNA) plus maternal and paternal blood or buccal samples to enable parental comparison and maternal cell contamination (MCC) assessment.
Limitations
Limitations include potential non‑diagnostic results despite comprehensive analysis, possible residual uncertainty for variants of uncertain significance (VUS), reliance on quality and sufficiency of specimen (e.g., maternal contamination, sample failure), and constraints in detecting certain variant types (e.g., non‑coding regulatory variants outside coverage, repeat expansions unless specifically targeted).
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14 days
Related Documents
For more information, please review the documents below
Specimen
Amniotic Fluid
Volume
Not provided
Minimum Volume
Not provided