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What are the novel findings of this work?Commonly used non-invasive prenatal screening (NIPS) for chromosomes 13, 18, 21, X and Y (i.e. 5-NIPS) is associated with a substantial residual risk of clinically significant findings on chromosomal microarray analysis, and the added value of 5-NIPS expanded for common microdeletions and genome-wide NIPS is low. What are the clinical implications of this work?These findings should assist healthcare practitioners in guiding couples towards informed decision-making regarding the choice between prenatal invasive testing and NIPS.

After theoretically normal noninvasive prenatal test results, clinically significant microarray findings can be found in 1 of every 50 pregnancies with high-risk maternal serum screening.