VeriSeq NIPT Analysis Software (48 Samples)

VeriSeq NIPT Analysis Software (48 Samples)

This fast, accessible, and innovative CE-IVD software solution enables clinical labs in the European Union (EU) to easily analyze sequencing data for noninvasive prenatal testing (NIPT) in their own lab.

  • Accessible Informatics Solution: Easy-to-use, validated, CE-IVD marked NIPT analysis software
  • Innovative Analysis: Proven test performance1,2 with innovative paired-end sequencing
  • Scalable Throughput: Analyze up to 48 samples per run for more efficient use of lab resources

With this software, it takes just 5 hours to go from sequencing run data to NIPT results that aid in the detection and differentiation of fetal aneuploidy status. This enables a 26-hour turnaround time for the entire NIPT screen, from received blood sample to final scores.*

The CE-IVD marked VeriSeq NIPT Analysis Software (48 Samples) integrates with fully automated sample preparation methods. Labs can batch up to 48 samples for high throughput.

The software runs on a dedicated, onsite server to provide secure data analysis. Data remains on site and accessible only over a private network. Labs can queue sequencing runs for analysis and deploy multiple servers to increase capacity. Adding servers allows labs to scale to meet their sample processing throughput needs.

VeriSeq NIPT Analysis Software (48 Samples) streamlines informatics, making this powerful assay available to more clinical labs. Once sequencing run data is available, the software automatically performs an analysis and then generates a report for each batch.

The VeriSeq NIPT Analysis Software (48 Samples) filters and aligns WGS sequencing reads to a reference genome. It then uses a sophisticated counting-based algorithm to aid in the detection of under- or over-representation of the test chromosomes. Studies have shown that this approach minimizes test failures.4,5 Built-in quality assessment (QA) of each sample ensures confidence in the obtained scores. Clinical labs perform their own clinical validation studies to establish guidelines for calling aneuploidy based on this output and provide results in their own report format.

To minimize test failures the VeriSeq NIPT Analysis Software (48 Samples) includes the individualized fetal aneuploidy confidence test (iFACT) sample quality scoring metric. iFACT is a dynamic threshold metric that indicates whether the system has generated sufficient sequencing coverage, given the fetal fraction estimate for each sample. As long as there is sufficient sequencing data and other data quality indicators, scores can be determined even for samples with low fetal fraction.

VeriSeq NIPT Analysis Software (48 Samples) takes the counting based approach for NIPT to the next level by leveraging paired-end sequencing data. During paired-end sequencing, both ends of each DNA fragment are analyzed. This enables discrimination of cfDNA fragment size within a single sample. Previous studies have shown that a maternal blood sample contains different lengths of cfDNA; longer length fragments tend to be maternal while shorter fragments are generally of fetal origin. Using the cfDNA fragment size information from paired-end reads, the algorithm in the VeriSeq NIPT Analysis Software (48 Samples) enriches for fetal signal. This new approach to analysis helps maintain a high level of accuracy while using as little as one third the read depth of other sequencing assays.3,4

*When used with an 8-hour automated sample and library preparation protocol and overnight sequencing run on an NGS system.

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References
  1. Wang E, Batey A, Struble C, Musci T, Song K, Oliphant A. Gestational age and maternal weight effects on fetal cell-free DNA in maternal plasma. Prenat Diagn. 2013; 33:662-666.
  2. Pergament E, Cuckle H, Zimmermann B, et al. Single-nucleotide polymorphism-based noninvasive prenatal screening in a high-risk and low-risk cohort. Obstet Gynecol. 2014; 124(2 Pt 1):210-218.
  3. Sehnert AJ, Rees, B et al Optimal Detection of Fetal Chromosomal Abnormalities by Massively Parallel DNA Sequencing of Cell-Free Fetal DNA from Maternal Blood. Clin Chemistry 2011:57(7) 1042-1049.
  4. Data on file. Illumina, Inc. 2016.
  5. Taneja PA, Snyder HL, de Feo E, et al. Noninvasive prenatal testing in the general obstetric population: clinical performance and counseling considerations in over 85‚ÄČ000 cases. Prenat. Diagn. 2015;Dec 30. Doi: 10.1002/pd.4766. [Epub ahead of print].
Intended Use Statement

The VeriSeq NIPT Analysis Software (48 Samples) generates quantitative scores to aid in the detection and differentiation of fetal aneuploidy status for chromosomes 21, 18, 13, X, and Y by analyzing sequencing data generated from cell-free DNA (cfDNA) fragments isolated from maternal peripheral whole blood specimens in pregnant women of at least 10 weeks gestation. The quantitative scores are Log Likelihood Ratio scores associated with under- or over-representation of a target chromosome relative to an expectation for a diploid genome.