Non-Invasive Prenatal Screening (NIPS) or Non-Invasive Prenatal Testing (NIPT) is a screening technique for accurately detecting aneuploidies and other chromosomal abnormalities from maternal blood. This test reduces the need for sampling using invasive techniques like chorionic-villus sampling (CVS) or amniocentesis which may be risky to the fetus. To ensure reproducible and accurate test results using NIPT, there is a need for stable, reusable and patient-like reference material to validate, monitor and troubleshoot assays designed to identify fetal aneuploidies by analyzing cfDNA isolated from maternal blood samples.

These reference standards are developed in collaboration with prenatal clinical labs. Cell from maternal and fetal euploid sources were collected and immortalized. The matched maternal-fetal reference material was manufactured using the immortalized cells from healthy mother carrying healthy male fetus.

• Reproducible and sustainable
• Matched maternal-fetal cfDNA based reference material
• Cell line-derived for close representation of patient samples
• Can be used for end-to-end validation of workflow
• Extensively validated using ddPCR and Vanadis^® NIPT platforms
• Manufactured under ISO 9001:2015

This control is designed to be used with the following products:

Technical Data

Format: cfDNA

Fetal Fraction: 10%

Buffer: Synthetic Matrix II

Product Information

Fragment size: ~170bp

Unit size: 40ng per 1mL

Expected DNA yield: ≥24ng DNA of product using the QIAamp^® Circulating Nucleic Acid Kit with 2mL extraction input

Verified Copy Numbers and Fetal Fraction

** Fetal Fraction = Fractional abundance (%) of SNP in Chr Y measured by ddPCR x 2

General Information

Shipping conditions: Ambient

Storage: 4°C

Expiration: 13 months from Date of Manufacture. See individual batch CoAs for exact information

Quality Control

Fragmentation size: HS D1000 DNA ScreenTape assay

Allelic Frequency: Droplet Digital™ PCR

Quantification: Qubit^® HS dsDNA Assay

Intended use: Mimix reference standards are for research use only. Not for use in diagnostic procedures. Vanadis products may not be licensed in accordance with the laws in all countries, such as the United States and Canada. Please check with your local representative for availability.

Vanadis Results

The Vanadis® NIPT system is the only NIPT screening platform to enable targeted cfDNA analysis allowing the quantification of chromosomes 21, 18, 13 without PCR, sequencing, microarrays or microfluidics. Instead, 3500 cfDNA fragments per chromosome are captured by highly specific chromosome 21, 18, and 13 probes. After perfect hybridization and ligation of the fragments in both ends of the specific probes, DNA circles including the chromosomal fragments are created. The chromosome fragments in DNA circles are amplified by rolling circle PCR and specific fluorophores are incorporated for each chromosome being analyzed. A proprietary nanofilter plate then captures the labeled DNA molecules for imaging to determine a density score.

Table showing representative data generated on the Vanadis NIPT platform using Revvity’s NIPT reference product line. Normalized ratios are calculated using the Vanadis NIPT platform imaging data and density scores for chromosomes 13, 18 and 21, which in turn are used to determine Z-scores for each.

Normalized ratio Representative normalized ratio plots using data generated on the Vanadis NIPT platform and Revvity’s NIPT reference product line. Both the chromosome being analyzed (13, 18 or 21) and euploid data points should lie on or close the diagonal, with the euploid being close to the center of the plot and the chromosome being analyzed in the upper right quadrant if positive for the trisomy.

Z-score Representative z-score plots using data generated on the Vanadis NIPT platform and Revvity’s NIPT reference product line. All samples that result in a positive outcome for trisomy 13, 18 or 21 show z-scores above a threshold of 3.15.