The project is being supported by BMBF funding from the ZimSolo and KMU-Innovativ programs.
The test is based on the sequencing of cell free fetal DNA from the maternal blood, and in the foreseeable future it could become a no-risk alternative to the invasive prenatal examinations such as the analysis of amniotic fluid (amniocentesis) which are currently used.
The pilot study involved the development of an analytical method based on the publications by Chiu et al. which was verified with more than forty clinical samples.
Analyses carried out with the Illumina Genome Analyzer IIx Next Generation Sequencing system unambiguously detected all eight positive samples.
The test had a sensitivity and a specificity of 100%.
The results were confirmed by conventional karyotyping.
GATC Biotech CEO and LifeCodexx Supervisory Board head Peter Pohl said to drastically reduce costs in the near future, they are in the process of developing a method which allows the pooling of several samples for parallel analysis with the Illumina HiSeq2000 sequencing system.
LifeCodexx CEO Michael Lutz said the clinical validation study with at least 500 samples will start immediately after concluding method development and plan to launch first prenatal diagnostic test at the end of 2011.
Markus Stumm of Berlin Center for Prenatal Diagnosis and Human Genetics said from a clinical point of view, the test could be introduced relatively quickly for women with high-risk pregnancies, in particular, and used alongside the existing methods to detect genetic chromosomal abnormalities non-invasively.
