Clinical implementation of routine Down-syndrome screening by NIPT
Read the article: Clinical implementation of routine screening for fetal trisomies in the UK NHS: cell-free DNA test contingent on results from first-trimester combined test.
Published online 26 October 2015
Released 26 October 2015.
Comment from UOG Editor-in-Chief, Prof. Basky Thilaganathan
London, UK
“The use of advanced DNA sequencing technology to screen for Down syndrome in pregnancy has been validated in numerous well conducted research studies over the last 1–2 years. What this pragmatic study adds to the existing literature is to demonstrate convincingly that fetal cell-free DNA testing can be implemented into routine pregnancy care and that it is welcomed by the majority of women who opt to undertake Down-syndrome screening. The researchers demonstrate significant reduction in the numbers of invasive prenatal tests - welcomed by women because these tests carry a risk of miscarriage. This reduction in miscarriage risk is not at the expense of detection of Down syndrome because this rate was greater than 90%, as anticipated from previous data. Furthermore, the authors are able to reassure us that, even when a firm diagnosis of Down syndrome is made, about a third of women make the informed decision to continue with their pregnancy, thereby allaying our fears that a safer Down syndrome screening test would lead to increased rates of termination of pregnancy. This study provides the framework for integration of non-invasive prenatal testing into large health organizations.”