By: 17 March 2014
Heralding a new era of non-invasive prenatal testing

Non-invasive tests to screen for foetal aneuploidy are rapidly emerging on the UK market, carrying a lower risks for mothers and foetuses than their invasive counterparts. But what do relevant studies highlight about the comparative performance of these tests?



The advent of new DNA-based non-invasive prenatal testing (NIPT) has helped to introduce a new highly accurate screening opportunity for foetal aneuploidy. Invasive techniques were once the only source of information on the genetic health of the foetus, but linked to miscarriage, these are reserved only for high-risk patients.

With advances in DNA sequencing technologies coinciding with the discovery of foetal circulating cell-free DNA in the maternal blood, non-invasive screening of trisomies, including trisomy 21 (Down’s syndrome) and trisomy 18 (Edward’s syndrome) is now possible from a standard maternal blood test.

Many new DNA-based NIPTs are appearing on the market, with performance and benefits assessed through comprehensive clinic-based validation studies. This article aims to discuss the comparative performances of the tests during these studies…


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