Quality control concerns in non-invasive prenatal testing

27 November 2014

A study of commercial non-invasive prenatal testing (NIPT) in the US has suggested that higher quality standards may be needed.

Matero-fetal medicine specialists sent two different blood samples actually taken from non-pregnant women to five of the leading providers of NIPT in the guise of samples from pregnant women at 12 weeks.

Writing in Ultrasound in Obstetrics & Gynecology, the researchers reported that three of the laboratories (Sequenom, Illumina, and Integrated Genetics) returned ‘normal’ results for these samples, whilst the other two (Ariosa and Natera) appropriately reported that there was insufficient fetal DNA for analysis. They ‘urge professional medical and laboratory societies to set and enforce appropriate quality-control guidelines for NIPT’ in the same manner as for other forms of prenatal testing.

However, Illumina said it was not a fair assessment of their test; Tristan Orpin told GenomeWeb News  that it was "akin to submitting a female sample for a prostate-specific antigen test and receiving a 'normal' result", also noting that the Verifi test had correctly reported that no aneuploidy had been detected.

This week the US Patent and Trademark Office nullified claims in an Illumina NIPT patent, a decision arising from Illumina’s original filing of a patent infringement suit against Ariosa for their Harmony™ Prenatal Test.

However, such decisions (and reversals) are common among the leading NIPT companies; Sequenom also lost patent claims to Ariosa recently. The NIPT market continues to grow; one recent market report estimates expansion of 150% in the next five years.

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