Monday 14 October 2013

Detecting trisomies in twin pregnancies: now available from Verinata

Illumina acquired Verinata earlier this year and their Verif prenatal test is a non-invasive one that detects foetal aneuploidies as early as 10 weeks. Many others are developing or selling similar tests and the real excitement for me (as I already have kids and don't plan on any more) is the impact that developments in foetal medicine have for Cancer diagnosis and prognosis.

A press release on Illumina's website today announces the development of the Verif test for use in twin pregnancies. A twin pregnancy means the allele fraction from each twin in maternal blood is lower than a single pregnancy making detection harder. They have verified the test in over 100 twin pregnancies and achieved 100% detection of aneuploidy for Downs, Edwards and Patau syndromes, trisomies 21, 18 & 13 respectively .

This shows how much development is still on-going in non-invasive testing by NGS.

Does this mean we can expect tests that will detect multiple cancers from ctDNA? Perhaps if we can improve sensitivity and can distinguish cancers based on specific patterns of mutation.

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