10-07-17 PRESS RELEASE

ARCEDI BIOTECH PUBLISHES ARTICLE HIGHLIGHTING ADVANCEMENTS AND POTENTIAL OF CELL-BASED NONINVASIVE PRENATAL TESTING TO DETERMINE PROBABILITY OF FETAL ABNORMALITIES

– Company’s Technology Isolates Fetal Cells from Maternal Blood Samples Allowing for Whole Genome Amplification –

Vejle, Denmark, July 10, 2017 – ARCEDI Biotech ApS, a company developing technologies for rare cell detection for use in prenatal diagnostic applications, today announced the publication of an article highlighting advancements in, and the potential of, cell-based noninvasive prenatal diagnosis (cbNIPD) as a viable alternative to more invasive and commonly used testing options including Chorionic Villi Sampling (CVS) and amniocentesis. The article, titled “Fetal Cells in Maternal Blood for Prenatal Diagnosis: A Love Story Rekindled,” was published in Biomarkers in Medicine and is available here.

The current prenatal diagnostic area has been dominated by methods such as cell-free non-invasive prenatal testing (cfNIPT) targeting cell-free fetal DNA from maternal blood. While these methods can reliably detect incidence of common aneuploidies (e.g., T21, T13 and T18), they have not been effective in detecting copy number variations (CNVs), another significant collection of prenatal abnormalities. This is because fetal DNA circulating in maternal blood is fragmented and mixed with maternal DNA. The authors conclude that intact fetal cells circulating in maternal blood can mitigate this shortfall of cfNIPT because they are the sources of pure fetal genomes.

“The investigation of fetal cells in maternal blood dates back to the late 1950s when the first report on circulating fetal cells was published by Alvin Zipursky,” said Ripudaman Singh, PhD, MBA, ARCEDI Biotech’s Chief Technology Officer and lead author of the article. “Since then, a significant amount of research has been conducted to effectively isolate and assess these rare cells for use in prenatal testing, but with little success. ARCEDI’s research and technology has shown that cbNIPD is a clinically viable option to determine the genetic status of the fetus. This evolving approach has the potential to change the prenatal testing space and may ultimately result in making invasive testing obsolete.”

According to the authors, cbNIPD should meet the following criteria:

  • The technology should target specific cell type(s)
  • There should be antibodies which are both sensitive and specific to those cell types
  • The technology should be platform and parameter independent
  • After identification of true fetal cells, there should be access to the cells for downstream application
  • The fidelity of the DNA from the enriched fetal cells should be high so genetic analysis using chromosomal microarray or next generation sequencing can be performed

It has been reported that the residual risk of deletion/duplication syndromes is 1 in 270. While cfNIPT can provide indicators which need to be confirmed via the invasive procedures such as CVS and amniocentesis, cbNIPD testing has the potential to provide accurate results without the need for confirmatory testing. The authors conclude fetal cells have the potential to be used in diagnostic testing and clinical trials should be conducted to determine the sensitivity, specificity and positive predictive value of a cell-based testing approach.

“We are very excited that the developed method fulfills the demand for robustness and high fidelity,” said Palle Schelde, ARCEDI Biotech’s Chief Executive Officer. “These are among the required and necessary parameters to enter into the commercial market and making the test available and beneficial for pregnant couples around the world.”

The authors described the past work they have done to establish fetal gene expression profiles and generate knowledge of the type of fetal cells circulating in maternal blood and the biomarkers they express. The first, non-targeted approach the authors previously took was to isolate fetal cells either by using a no-enrichment method or by depletion of maternal leucocytes using a magnetic-activated cell sorting (MACS) platform. Upon assessment of these cells, an overexpression of endothelial and placental genes in fetal cells was demonstrated compared to the maternal cells.

A second, more targeted gene expression array analysis of 198 circulating fetal cells was then completed revealing that more than half of the overexpressed genes in the fetal cells were specific in extravillous trophoblasts (EVTs) – identifying the cell type that could be a target for cbNIPD. This method of targeting EVTs has been reliable in enriching fetal cells from every pregnant mother’s blood sample and has been subsequently used to detect chromosomal and sub-chromosomal changes in the fetal genome. The study authors concluded that EVTs are relevant targets for cbNIPDs.