Bringing a new life into the world is filled with joy and anticipation—but also understandable concern about your child's health. When prenatal screening reveals potential issues, the wait for definitive answers can feel endless. At Praxis Genomics, we're revolutionizing prenatal diagnostics by reducing that wait from months to days.
Watch Dr. Nagy's Talk on Accelerating Prenatal Diagnostics
The Current Landscape of Prenatal Testing
Modern prenatal care relies heavily on non-invasive screening methods. These include:
- Combined screening tests that measure specific proteins in maternal blood
- Fetal ultrasound to visualize developmental abnormalities
- Non-invasive prenatal testing (NIPT) that analyzes fetal DNA fragments in maternal blood
While NIPT represents a significant advancement—with a false positive rate of just 0.13% for common trisomies—it has limitations. The test examines placental DNA rather than the embryo directly, and expanding its scope to detect smaller genomic regions increases error rates.
When Confirmatory Testing Becomes Necessary
Approximately one in every thousand pregnancies requires invasive testing to confirm screening results. Indications include:
- Increased nuchal translucency (neck swelling between 3.4-9.6mm)
- Hydrops (generalized fetal swelling suggesting heart abnormalities)
- Brain abnormalities or missing nasal bone
- Spina bifida requiring syndrome exclusion
- Inconclusive NIPT results
Traditional options—chorionic villus sampling or amniocentesis—carry minimal risk (less than 0.5% abortion risk) but have historically required approximately two months for complete genetic analysis.
The Praxis Genomics Difference: One-Week Turnaround
Our approach fundamentally changes the timeline. By performing whole genome sequencing directly on invasive samples without requiring cell culture, we deliver comprehensive results in approximately one week—the same answers that traditionally take two months.
Our Advanced Diagnostic Capabilities Include:
Immediate Analysis:
- Aneuploidy detection (chromosome counting) equivalent to microarray testing
- Point mutation identification in coding regions
- Whole genome variant analysis
- Automatic maternal cell contamination detection
Tiered Testing Approach:
Because we capture whole genome data initially, we can immediately upgrade analysis depth if initial findings don't resolve clinical questions—no need to resubmit samples or restart testing.
Specialized Diagnostics:
- Long read sequencing for expansion repeat disorders
- Optical genome mapping for translocation detection
- Transcriptomic analysis to assess functional significance of mutations
- Classical cytogenetics for mosaicism below 20%
Why Speed Matters in Prenatal Diagnostics
The one-week turnaround is crucial because it provides actionable answers within critical decision windows. Many referrals arrive during holidays or approaching the 24-week mark, when time pressure intensifies. Faster results mean:
- Reduced anxiety for expecting parents
- More time for clinical decision-making
- Earlier specialist consultations when needed
- Better surgical planning for correctable conditions
The Path Forward
While we recommend maintaining cell cultures for potential follow-up testing with classical cytogenetics or optical genome mapping, our direct sequencing approach provides definitive genetic assessment rapidly without compromising accuracy.
Non-invasive prenatal screening serves an essential role, but when those results require confirmation, expecting parents deserve answers quickly. Advanced genomic technologies make that possible.
Learn more about our accelerated prenatal diagnostic services at www.praxisgenomics.com
