Latest sub-chromosomal non-invasive prenatal test from Sequenom

13 July 2015

Sequenom Laboratories has announced plans to launch a new non-invasive prenatal testing (NIPT) product. The MaterniT™ GENOME test is said to be the first form of NIPT to ‘provide karyotype-level insight into fetal chromosomal status’.

The MaterniT GENOME test is said to identify any loss or gain of chromosomal material larger than 7 megabases (Mb); this would mean larger unbalanced chromosomal translocations, as well as aneuploidies (loss or gain of whole chromosomes).

Columbia University Medical Center Director of Reproductive Genetics Dr Ronald Wapner said that the new test “should identify the majority” of significant subchromosomal cytogenetic abnormalities not previously detected by NIPT – including Sequenom’s flagship MaterniT21 PLUS test for fetal aneuploidies 13, 16, 18, 21 (Down’s syndrome) and 22, which also tests for the presence of a small range of specific microdeletions, such as DiGeorge Syndrome.

Validation data from trials of the new MaterniT GENOME test are to be presented tomorrow (14th July) at the International Conference on Prenatal Diagnosis and Treatment currently underway in Washington D.C. and become available to US doctors within the next few months.

Sequenom CEO William Welch commented: "The MaterniT GENOME test fulfils our goal of delivering the most relevant fetal genomic information noninvasively".

This is an important development for the company, who must be hoping that the new offering will revive their fortunes after a legal judgement last year invalidated multiple claims in a patent underpinning the MaterniT21 PLUS test.  Since then the company acquired new intellectual property from Isis Innovation, and have been tipped by the Wall Street Observer as one of the ‘hot biotech stocks to watch’.  Much will depend on the performance of the MaterniT GENOME test – and, of course, on the price.

However, it may be a marker of the direction of travel in NIPT; other commercial tests (such as Natera’s Panorama™) already offer testing for fetal gender, aneuploidies and microdeletions. Demand probably also exists for the most comprehensive forms of non-invasive chromosomal abnormality testing possible; if Sequenom’s new test proves valid, only technical difficulties may bar the way to ever more sensitive high-resolution genome wide coverage.

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