Noninvasive Prenatal Screening: Battleground In Diagnostics Innovation

Article preview from IN VIVO - September, 2013

Four companies have brought noninvasive prenatal testing to the market within the past two years. Its dramatic, rapid uptake has triggered a backlash among many geneticists, who fear the consequences of a poorly understood – and overhyped – technology.

Noninvasive Prenatal Screening: Battleground In Diagnostics Innovation

Article preview from IN VIVO - September, 2013

Since the commercial introduction of Sequenom Inc.’s MaterniT21 test in October 2011, noninvasive prenatal testing (NIPT) has become the hottest – and most controversial – area of clinical genomics.

The drive toward NIPT was rooted in the bold dream of replacing invasive diagnostic testing for genetic disorders, which entails karyotyping (chromosome counting) using chorionic villus sampling (CVS) or amniocentesis, with noninvasive tests using a simple blood draw from the mother.

A few years ago, the challenges seemed squarely technological – and daunting: could sequencing methods and bioinformatics accurately and reliably measure the presence of aneuploidy (extra copies of chromosomes), alterations in sex chromosomes, and even microdeletion and microduplication syndromes too small to be detected by standard cytogenetic chromosome analysis. The sample would come from cell-free fetal DNA taken from maternal blood or alternatively, from the capture of whole fetal cells in maternal circulation. (Pursuit of the latter technology has been abandoned by almost all companies.)

In rapid succession, four NIPT offerings have come to market. MaterniT21 has now been joined by products from three other companies: Verinata Health Inc.’s verifi test launched in March 2012 (the firm was subsequently acquired by Illumina Inc. in January 2013 [See Deal]); Ariosa Diagnostics Inc.’s Harmony test, which followed two months later; and Natera Inc.’s Panorama test, which hit in December 2012. All four screen for genetic abnormalities caused by extra copies of chromosomes: trismony 21 (Down syndrome), trisomy 18 (Edwards syndrome), and trisomy 13 (Patau syndrome), plus sex chromosome aneuploidies. They all interrogate cell-free fetal DNA from maternal blood. Natera and Ariosa have adopted chromosome-targeted sequencing approaches, whereas Sequenom and Verinata use forms of massively parallel (shotgun) sequencing.

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