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SQNM Sequenom Trisomy test auf Tagesschau

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Antwort auf Beitrag Nr.: 42.694.385 von medisana am 03.02.12 13:39:04T13 and T18 Data Positive: Sequenom announced the on-line publication
(Genetics in Medicine) of data on the MaterniT21 assay's ability to detect
T18 (Patau syndrome) and T13 (Edwards syndrome), with the timing of the
publication in-line with our expectations. As background, T18 and T13 are rarer
chromosomal abnormalities, occurring in ~1:3,000 live births and ~1:10,000 live
births, respectively. This study was conducted as a part of the clinical validation
study (i.e. Women & Infants study, see our note published 10/18/11), with the
T21 results already reported (98.6% sensitivity/99.8% specificity). Encouragingly,
MateriT21 detected 62 out of the 62 T18 pregnancies (100% sensitivity/99.7%
specificity) and 11 out of 12 T13 pregnancies (91.7% sensitivity/99.0% specificity).
As a reminder, Sequenom is already reporting out any cases of T13 or T18 detected
by its MaterniT21 assay.
• Our Take: One of the primary push backs on Sequenom's MaterniT21 assay from
investors has been concerns over the tests ability to detect rarer chromosomal
abnormalities, such as trisomy 13 and trisomy 18, which are detected by the
invasive amniocentesis procedure. We believe MaterniT21's strong trisomy 13/
trisomy 18 sensitivity and specificity performance should help alleviate these

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