3 February 2012 - Sequenom Inc (NASDAQ:SQNM), a US-based diagnostic testing and genetics analysis company, said on Thursday that an independent study on Sequenom Centre for Molecular Medicine's MaterniT21 laboratory-developed test (LDT) showed that the test can detect foetal trisomy 21, 18 and 13 with high accuracy from a maternal blood sample.

The clinical sites that participated in the study collected and processed maternal plasma samples from 4,664 pregnant women at high risk for foetal aneuploidy.

A total of sixty-two trisomy 18 and twelve trisomy 13 pregnancies along with their matched controls (including the trisomy 21 cases and matched controls) were tested using the MaterniT21 LDT. When unblinded, the detection rate for trisomy 18 was 100% and for trisomy 13, was 91.7%, with false positive rates of 0.28% and 0.97%, respectively.