Several studies in the last 4 years have reported the clinical validation and/or implementation of analyzing cell-free (cf) DNA in maternal blood in screening for trisomies 21, 18 and 13 and sex chromosome aneuploidies. In a previous meta-analysis1, we reported the results from studies published between January 2011 and 20 December 2013. The objective of this meta-analysis was to update the results, with inclusion of studies that were published up to 4 January 2015.


Literature search and study selection Searches of PubMed, EMBASE and The Cochrane Library were performed, with a restriction to English-language publications, to identify all peer-reviewed articles published on clinical validation or implementation of maternal cfDNA testing in screening for aneuploidies. The search period was from January 2011, when the first such study was published2, to 4 January 2015. A list of relevant citations was generated from these databases using the following search terms: ‘maternal blood cfDNA’, ‘non-invasive prenatal detection’, ‘noninvasive prenatal diagnosis’ or ‘non invasive prenatal diagnosis’. The abstracts of citations were examined by two reviewers (M.M.G., R.R.) to identify all potentially relevant articles, which were then examined in full-text form. Reference lists of relevant original and review articles were searched for additional reports. Agreement about potential relevance was reached by consensus and by consultation with a third reviewer (K.H.N.). The inclusion criteria were peer-reviewed study reporting on clinical validation or implementation of maternal cfDNA testing in screening for aneuploidies, in which data on pregnancy outcome were provided for more than

FONTE: Published online 1 February 2015 in Wiley Online Library