HDPCR™ Non-Invasive Prenatal
Testing(NIPT) Panel*

Multiplexed digital and droplet digital PCR test under development for the analysis of Trisomy 13, 18 and 21, and sex chromosome abnormalities from cell-free DNA (cfDNA)

Background

Noninvasive prenatal testing (NIPT) using cell-free DNA (cfDNA) has drastically changed the field of prenatal care since initially being recommended in the American College of Medical Genetics and Genomics (ACMG) Guidelines in 2013. The shift from highly invasive methods to non-invasive methods has been driven by the safety and low risk of miscarriage, the increased incidence of chromosomal abnormalities from older average maternal age, and increased availability of NIPT testing options. Current U.S. guidelines only recommend NIPT for testing of trisomy 13, trisomy 18, and trisomy 21 for high risk pregnancies, but additionally recommend informing women with average and low risk pregnancies about the value of NIPT.

Most NIPT using cfDNA is performed with sequencing-based methods, but can also be performed with a microarray-based readout to quantify DNA. While providing the necessary performance, these technologies are plagued by high cost, high complexity, and long turnaround time. Because of this, NIPT testing is largely centralized in U.S. and limited to only high-risk pregnancies. The greatest barrier to adoption of NIPT for average and low-risk pregnancies is the high cost of current available solutions.

*This product is in development.

Reference: Gregg et al. Noninvasive Prenatal Screening for Fetal Aneuploidy, 2016 Update: A Position Statement of the American College of Medical Genetics and Genomics. Genetics in Medicine. Doi: 10.1038/gim.2016.97.

HDPCR™ NIPT

NIPT Panel
Trisomy

Trisomy 21 (Down syndrome)
Trisomy 18 (Edwards syndrome)
Trisomy 13 (Patau syndrome)

Sex Chromosome Abnormalities

Monosomy X (Turner syndrome)
XXY (Klinefelter syndrome)
XXX (Triple X syndrome)
XYY (Jacob's syndrome)

*This product is in development.

Features and Benefits

  • Increased digital and droplet digital PCR multiplexing. Simultaneous detection of the most common fetal aneuploidy disorders and sex chromosome abnormalities in a single reaction
  • Rapid turnaround time. Generate results in a matter of hours with the HDPCR NIPT assay versus days with sequencing and microarray-based assays
  • Seamless integration onto digital and droplet digital PCR instrumentation. Leverage the digital and droplet PCR instruments already in your lab
  • Streamlined data analysis and management. Easy and fast analysis of test results and data management with ChromaCode Cloud
  • Customized to your needs. Select and deselect targets for reporting and adjust assay parameters to optimize test results to your institution’s needs

Key Specifications
and ORDERING INFORMATION FOR
HDPCR™ NIPT

This product is in development. Please check back in the future for ordering options.