Technology
ARCEDI’s unique technology isolates fetal cells from maternal blood and uses them for genetic analysis
ARCEDI has developed a proprietary technology of isolating rare circulating fetal cells from maternal blood samples and using these cells for Non-invasive Prenatal Testing (NIPT).
In comparison to other methods targeting rare cells, ARCEDI’s technology enriches fetal cells using patented markers, isolates individual fetal cells by a lean, automated approach using Fluorescence Activated Cell Sorting, and confirms their fetal origin by a molecular test using Short Tandem Repeat analysis. After amplification, fetal DNA is subjected to genome-wide array-Comparative Genomic Hybridization analysis.
Based on its proprietary technology ARCEDI has launched ‘EVITA TEST COMPLETE’, a fetal cell based Non-invasive Prenatal Test (cbNIPT), which gives the pregnant women in the gestational age of 10 to 14 weeks the opportunity of knowing the genetic status of the unborn child without the need of invasive tests. ‘EVITA TEST COMPLETE’ based on simple blood sampling, holds the potential to replace the current invasive procedures, known to carry a slight risk of unintended abortions, and unnecessary stress and anxiety.
ARCEDI® TECHNOLOGY – Automated & High Throughput Process
ARCEDI® TECH PROGRESS
- Inception
- First publication describing FC gene expression profile. FCs have ‘placental origin’
- Second publication describing FC gene expression profile. FCs are ‘extravillous trophoblasts’
- Third publication on feasibility study using antibodies specific for FCs
- Fourth publication describing improved method of FC enrichment.
- One of the first data on arrayCGH on FCs.
- Case report: detecting more than just aneuploidies (CNVs), using fetal cells in maternal blood
- cbNIPT test launched in Denmark
- Tech Leap – Isolating fetal cells individually without subjectivity/manual intervention using FACS
- CbNIPT for monogenic diseases project initiated
- Tech Leap – Technology applicable in other fields eg. Prenatal diagnosis of cystic fibrosis using fetal cells, Pre-term birth, Diagnosis of hydatidiform mole . Proof of concept via publications
- Cell-based noninvasive prenatal testing (cbNIPT) detects pathogenic copy number variations
Commercial Launch – Two products launched – EVITA TEST COMPLETE, and EVITA TEST GENDER
Publication on cbNIPT for monogenic disorders following PGT-M
Publication on hydatidiform mole diagnostics using circulating gestational trophoblasts
- Publication on screening for Fetal Aneuploidy and Sex Chromosomal Anomalies in a Pregnant Woman With Mosaicism for Turner Syndrome
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Publication on twin pregnancy
NGS unit established
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CTC project initiated
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Investments in robots for automation and throughput
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ISO13485/ISO15189 implementation initiated
- FACS for fetal cell isolation patent granted in the US
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Publication of Clinical Data: “How does cell‐based non‐invasive prenatal test (NIPT) perform against chorionic villus sampling and cell‐free NIPT in detecting trisomies and copy number variations? A clinical study from Denmark“
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NextSeq 2000 acquired
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ISO13485 accredited
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FACS for fetal cell isolation patent granted in the EU
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Publication on Preterm birth: “mRNA and Protein Expression in Human Fetal Membrane Cells: Potential Biomarkers for Preterm Prelabor Rupture of the Fetal Membranes?”
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Publication on Monogenic disease diagnosis using fetal cells: “Clinical interpretation of cell-based non-invasive prenatal testing for monogenic disorders including repeat expansion disorders: potentials and pitfalls“
BOTTOM-UP SCIENCE
For decades it has been known that cells from the developing fetus make their way into maternal blood circulation. However, because of the rarity of these cells and lack of knowledge of their type and function, it has been a challenge to source these cells for prenatal diagnosis. For the last 15 years the scientific team at ARCEDI has characterized these rare cells and concurrently optimized a technology for isolating and analysing single fetal cells. They were the first to describe that extravillous trophoblasts are the fetal cell type that circulate in maternal blood and used markers against these cells to successfully enrich them from the blood sample.
In a 2016 publication in ‘Prenatal Diagnosis’, scientists at ARCEDI, among others, described an improved method of enriching fetal cells and used 1-2 fetal cells to perform chromosomal and subchromosomal testing without invasive sampling. This was one of the first studies to report successful genetic analyses on fetal cells enriched from maternal blood.
In a 2017 joint publication by ARCEDI and Aarhus University Hospital entitled “On the road to replacing invasive testing with cell‐based NIPT: Five clinical cases with aneuploidies, microduplication, unbalanced structural rearrangement, or mosaicism”, cases with smaller copy number variations in the fetal genome detected on circulating fetal cells isolated from maternal blood were presented. In a recently published article rare fetal pathogenic conditions, in the Prader-Willi syndrome region and Spinocerebral Ataxia type 15 region are detected by cbNIPT, but not by cfNIPT.
ARCEDI research has also focused on the impact of relevant biological parameters on cbNIPT results. These include maternal BMI postpartum circulation of fetal cells and gestational age.
ARCEDI is currently developing another test to cover a range of monogenic disorders and has recently published a proof of concept article showing that it is possible to detect mutations causing cystic fibrosis.
Additionally, a manuscript in collaboration with six different regional hospitals in Denmark has been submitted for publication, where, following preimplantation genetic testing for monogenic disorders (PGT-M), the use of fetal cells for non-invasive prenatal diagnosis has been proposed as an alternative to invasive testing. This opens opportunities for a wider screening of monogenic disease in high risk couples, without the need of invasive methods.
OTHER APPLICATIONS
ARCEDI’s rare cell isolation and detection technology has been used for the isolation of other cell types with applications in preterm birth and diagnosing hydatidiform mole.
PATENT PROTECTION
ARCEDI has four granted patents, and two submissions.
