10 July 2013

Prenatest studies: Early prenatal diagnosis at higher accuracy of 99.8%


Improved PrenaTest® provides early knowledge for high risk pregnancies

PrenaTest® can now be performed after the ninth week of pregnancy

Constance, Germany – PrenaTest®, Europe’s first non-invasive molecular genetic blood test to determine fetal trisomies 13, 18 and 21 in the mother’s blood can now be performed for high risk pregnancies after the ninth week (W 9 + D 0). Performing PrenaTest® at this early stage of pregnancy may be advisable, especially if mothers are at high risk due to a genetic disposition, e.g., the presence of Robertsonian translocation in one parent, or fetal trisomy was diagnosed during a previous pregnancy. This became possible through the advancement of a method called QuantYfeX™ technology, which LifeCodexx uses to measure the amount of cell-free fetal DNA (cffDNA) in the mother’s blood right at the beginning of the lab process. If the amount of this DNA is at least four per cent during the early weeks of pregnancy, LifeCodexx is able to reliably analyse the blood sample. This innovative QuantYfeX™ technology also allows LifeCodexx to notify the physician at the very beginning of the lab process, if the amount of detected cffDNA is too low. The physician can then promptly take a new blood sample which subsequently minimises the stressful waiting period for the anxious mother.

Further, LifeCodexx performed additional clinical validation of PrenaTest® together with its collaborative partner Sequenom Inc. on 340 samples from women with risk pregnancies. This confirmed the high quality of PrenaTest® with an overall detection rate of 100 per cent in this study. Based on the total collective of now 808 clinical samples, 99.8 per cent of all samples could be diagnosed correctly.

“Through the advancement of our QuantYfeX™ technology and its early integration into the PrenaTest® analysis, we are the first company worldwide, which is able to notify physicians and their respective patients immediately on accession of the sample, if the blood sample can be analysed,” says Dr Michael Lutz, chairman of LifeCodexx AG. “Combined with additional automated lab processes we were also able to significantly lower the price for PrenaTest® in early June.” “The attending physician will decide during consultation of the patient, if the improved PrenaTest® is advisable before the ninth week of pregnancy,” adds Dr Wera Hofmann, Medical Director at Life Codexx AG, in regard to the advancement. “According to the recommendations of experts, non-invasive molecular genetic tests such as PrenaTest® are especially advisable in connection with a first trimester ultrasound, which is performed between W 11 + D0 and W 13 + D6 of pregnancy.” With its CE-certified software pursuant to the In-vitro Diagnostics Directive, PrenaTest® is the only marketable, non-invasive molecular genetic blood test in the EU to detect fetal trisomies 21, 18 and 13. The analysis is exclusively performed in Germany. To date, 4,000 women have decided for PrenaTest®. Less than 0.2 per cent of all samples could not be successfully analysed despite the requested repeat test. Several statutory as well as private health insurance funds in several countries already cover the costs for the analysis. PrenaTest® is available in numerous countries in Europe, Asia and the Middle East.

About PrenaTest®

The non-invasive molecular genetic PrenaTest® is able to detect fetal trisomy 21 with a high degree of accuracy from maternal blood based on the use of next generation sequencing techniques. With its low false positive rate of 0.5% it further clarifies early diagnosis of fetal malformation and therefore reduces the number of unnecessary invasive examinations of non-affected pregnancies. Thus, PrenaTest® is an innovative non-invasive prenatal diagnostic tool which complements common prenatal examinations, and, in contrast to invasive methods such as amniocenteses, does not carry the risk of procedure-related fetal losses. In accordance with the recommendations of the “ German Association of private physicians of prenatal medicine” (Bundesverband niedergelassener Pränatalmediziner, BVNP), the German Society of Human Genetics (gfh) or  the International Society for Prenatal Diagnosis (ISPD), positive test results need to be further clarified diagnostically by means of an invasive examination. PrenaTest® is exclusively for pregnant women who are in the finished ninth week (W 9 + D 0) of pregnancy or later and have a risk of fetal trisomies in the unborn child. Furthermore, in Germany, women opting for the PrenaTest® will need to take unbiased information and genetic counseling as non-directive assistance in their decision making process by a qualified physician in accordance with the German Genetic Diagnostics Act and the guidelines of the Genetic Diagnostic Commission.

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