Women choose blood test for the detection of fetal trisomy 2

For many women pregnancy is a happy and exciting time. However, for those who have had  triple test results that indicate a high risk of Downs syndrome, things can become very stressful, not least because of the risks of miscarriage that are associated with chorionic villus sampling and amniocentesis that are required for a definitive answer. Now, however, a non-invasive molecular genetic blood test, the PrenaTest from Lifecodexx, for the detection of fetal trisomy 21 is available at over 150 qualified prenatal practices and clinics in Germany, Austria, Liechtenstein and Switzerland. Close to 1,000 women whose babies were classed at high risk of trisomy 21 have opted for the test, and evaluation of the PrenaTest analyses shows that the vast majority (97 % of the women tested) could be relieved with regard to the presence of trisomy 21 in their unborn child. Only 1.5 % of the analysed blood samples carried fetal trisomy 21, and as far as known, these positive results have been confirmed by amniocentesis. Another 1.5 % of the blood samples could initially not be reported primarily due to a low amount of cell-free fetal DNA. This is a major step forward in achieving fast, accurate, point-of-care testing at what is undoubtedly a worrying time.

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