The prospective and blinded study evaluates this new molecular genetic method in comparison with conventional invasive methods and is based on the Next Generation sequencing of cell-free fetal DNA from maternal blood.
For the first time ever multiplexing the analysis on an Illumina HiSeq 2000 could be increased from previously seven to now twelve samples leading to increased cost efficiency. In addition, blood sampling and shipping was simplified, as the physician is no longer required to prepare the blood plasma before shipping and can now send the sample at ambient temperature.
“We are very pleased to have the sample recruitment completed within six months. We sincerely thank all participating women and physicians for their support of the evaluation of this new diagnostic method,” said Dr. Michael Lutz, CEO of LifeCodexx AG. “We are very confident that the study will achieve the same positive results of previous pilot studies with regard to specificity and sensitivity. Then we will be able to offer a very reliable and safe diagnostic test to many women with high risk pregnancies, saving them from invasive prenatal methods.”
The clinical study was conducted jointly with several Central European prenatal diagnostics centers and scientists at GATC Biotech AG and LifeCodexx AG. Currently, the only reliable way of diagnosing chromosomal irregularities during pregnancy is to use invasive prenatal methods. This causes miscarriage in about one per cent of these risky surgical procedures.