The Advalytix AmpliGrid methodology is the first technology to enable the targeted selection and analysis of single foetal cells from maternal blood. This creates a safe and cost effective alternative to invasive tests such as amniocentesis and chorionic villi biopsies. At present, the AmpliGrid method is in the test phase at the University of Graz and is planned to be ready for market launch in two to three years.

Since the AmpliGrid method only requires maternal blood, it eliminates the difficulties associated with the present hereditary disease diagnosis methods. Until now, it has been impossible to enrich these rare cells (about 1 - 10 cells per ml) to a high enough degree of purity. Consequently, results of analyses are generally an un-interpretable mix of maternal and foetal genetic material. Therefore in order to extract foetal cells only, prenatal diagnoses protocols presently rely on invasive methods such as amniocentesis. These invasive methods though can lead to complications, such as an excessive loss of amniotic fluid, haemorrhages or injuries to the womb. Furthermore, one in every 200 procedures leads to miscarriage.

The AmpliGrid method developed by Advalytix uses foetal cells from the maternal blood for the diagnosis. These are enriched and then analysed individually using modern molecular diagnostic methods. The foetal cells are reliably selected and analysed without mixing of the mother's genetic material. As a result diagnosis of trisomies and hereditary diseases, such as cystic fibrosis, is risk-free for both mother and foetus. “Advalytix has succeeded in linking imaging-based and molecular biological analyses at the cellular level”, explains Dr. Wolfgang Mann, project manager at Advalytix. “This is a decisive breakthrough for routine testing of individual cells in all areas of medical diagnostics.”

Advalytix and the Medical University of Graz are now cooperating on the ‘in-practice’ testing of this non-invasive procedure. The University is supplying the enriched cell material, whilst Advalytix is validating the AmpliGrid technology based on these samples. “This is a future oriented method, which offers a realistic perspective for the broadly based use of molecular genetic prenatal diagnostics “, explains Prof. Dr. Peter Sedlmayr from the Institute for Cell Biology, Histology and Embryology at the Centre for Molecular Medicine. “The individual risk of a genetic disorder in the foetus is generally too slight in a young woman to justify an invasive operation. Theoretically, all pregnant women could benefit from the use of an effective molecular genetic analysis of foetal cells on a non-invasive basis using the AmpliGrid technology. Minimising the risk of such procedures is of great significance, especially in diagnostics.”

Prenatal diagnostic procedures detect diseases and malformations before birth. In particular, they provide information on the presence of hereditary diseases and trisomy of chromosomes 13, 18 and 21. Trisomy 21 is commonly known as Down’s Syndrome and is the most frequent trisomy-related disorder throughout the world, occurring at a rate of one in 600 births (on average).

Among the traditional invasive procedures used to investigate pathological changes in foetal genetic material are chorionic villi biopsies and amniocentesis. Both methods carry significant risk of miscarriage and put stress on the pregnancy, both through the operation themselves and the long wait for results. These risks and stresses are eliminated by the AmpliGrid technology, which guarantees safe and rapid diagnostics relieving the stress on prospective parents and the doctors.

Advalytix AG (Munich) was founded in 2000 and has been a wholly owned subsidiary of Olympus Life and Material Science Europa GmbH since 2005. Within the Olympus Group, Advalytix is the world wide centre of expertise for cell-based molecular diagnostics. One of the company’s main focuses is the miniaturisation of diagnostic and biological tests for research and development. Advalytix products uniquely link imaging technologies such as microscopy with nucleic acid analysis, enabling Advalytix to offer turnkey system solutions consisting of both instruments and reagents. Advalytix has developed a portfolio of products for these applications, based on proprietary microelectronics technologies, such as surface acoustic waves (SAW).

The Medical University of Graz is a partner in the Excellence Network SAFE (Special Non-Invasive Advances in Fetal and Neonatal Evaluation Network), which was established by the 6th framework programme for research of the European Commission (http//safenoe.org). In the SAFE working group at the Institute for cell biology, histology and embryology, as well as Prof. Dr. Peter Sedlmayr, Dipl.-I. Thomas Kroneis and Dr. Kristina Kofler work in cooperation with Prof. Erwin Petek, Prof. Dr. Michael Speicher and Dr. Jochen Geigl from the Institute for Medical Biology and Human Genetics.