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Key points What is already known about the topic? Multiple aneuploidies identified on cell‐free DNA (cfDNA) testing have an 18% positive predictive value for maternal malignancy. Tumours often contain multiple chromosome errors including oncogene duplications. In these instances, screening on more limited cfDNA screening platforms typically result in a technical failure or “no call”. What is new about the topic? Genome‐wide cfDNA assesses all chromosomes, including segmental aneuploidy, providing sufficient resolution for the detection of some cases of oncogene duplication. Genome‐wide cfDNA screening is a commercial reality. The debate should now focus on how best to manage the additional information these assays provide.

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count (FBC), haemoglobin electrophoretogram (HbEPG) and genetic test results for women and their partners. Comparison of laboratory results observed before (Jan 2015 -Aug 2018, n=613) and after (Sept 2018 -Dec 2020, n=416) implementation of the algorithm.Results: Use of the screening algorithm resulted in a 15% shift towards identification of clinically significant results, despite a 48% reduced demand on the molecular laboratory. The number of one gene HBA deletions referred was reduced by 50%, with a relative increase in the detection of two gene deletions (in cis) by 15%. The distribution of FBC and HbEPG indices applied in the algorithm was maintained in the post-implementation cohort. The collaboration between molecular and haematology laboratories in the design of this algorithm resulted in improved patient care and laboratory resource management.