LifeCodexx AG includes DiGeorge syndrome into PrenaTest® spectrum in clinical routine
Validation study and pilot projects in several European countries demonstrated highest test accuracies for the detection of the 22q11 deletion syndrome
Konstanz, January 18, 2016 – PrenaTest®, Europe’s first NIPT, now also routinely tests for the DiGeorge syndrome, also known as 22q11 deletion syndrome. By adding this microdeletion as the most common genetic microdeletion syndrome occurring in about one out of 3,000 births, LifeCodexx now offers a non-invasive prenatal test (NIPT) with one of the largest test panels available today at highest accuracy.
For validation of the examination method data from synthetic pooled DNA samples as well as from several blood samples from pregnant women, whose unborn children had a 22q11.2 microdeletion, were examined. In all cases the microdeletion was correctly detected without any false-positive or false-negative results. Starting May 2016, the results of the validation study were confirmed during pilot projects in several European countries with the aim to apply the new offering only in cases with ultrasound abnormalities with a strong correlation to DiGeorge syndrome. To date, the test accuracy for DiGeorge syndrome was 100 percent based on the feedback of the physicians.
“The examination of copy number variations is being discussed controversially in the medical community. According to many experts only testing for DiGeorge syndrome provides a clinical benefit for fetal and neonatal management,” comments Dr. Wera Hofmann, CSO of LifeCodexx AG. “Therefore we emphasize to use this free-of-charge PrenaTest® supplement only in cases with a concrete suspicion for the DiGeorge syndrome.”
The new examination will also routinely be offered as a supplement to previously performed PrenaTest®. In this case the existing data will be re-analyzed to examine whether the microdeletion can be found on chromosome 22. Such a follow-up can be useful if the previous test result is negative for the autosomal trisomies but the later organ screening provides conspicuous results.
Based on molecular genetic methods such as next generation sequencing and qPCR technologies, the PrenaTest® determines the fetal trisomies 21, 18 and 13, various gonosomal aneuploidies and now in addition the 22q11.2 microdeletion. Europe’s first NIPT is currently available in more than 50 countries worldwide.