Our study suggests that all models do not perform equally, especially for the subgroup of patients with only micrometastasis or ITC in the SN. We point out available evaluation methods to assess their performance and provide guidance for clinical practice.

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In this cohort of patients, HER2 positivity indicated higher rates of local and distant recurrence. In contrast, TopIIa IHC positivity predicted lower risk of metastases and death, thus being a positive-predictive factor for the responsiveness to AbCTX. TopIIa gene amplification did not add predictive information. Therefore, we conclude that TopIIa protein expression might rather be the target of anthracyclines independent from gene copy number.

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In the nonstandard DS cases, second-trimester MSMs gave the same detection rate as for standard trisomy 21, except the cases with low-level mosaicism (<10%).