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Vol. 62 No. 2 (2026)
DOI: 10.4415/ANN_26_02_11
Original Articles
2026-06-15
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External quality assessment programs in cytogenomics in the Lombardy Region, Italy (2018-2024): performance and trends

Authors

Fabio Pasotti , Valentina Achille , Simona Da Molin , Giovanna Azzarà , Giuseppa Liga , Giuseppe Moriello , Barbara Zaccaria , Lorenza Romitti , Silvia Russo , Maria Iascone , Sabine Stioui , Sabrina Buoro

Abstract

Background. This study summarizes seven years (2018-2024) of external quality assessment (EQA) activities in cytogenomics conducted in the Lombardy Region, Italy, across four diagnostic sectors: chromosomal microarray (CGH/SNP-array), prenatal cytogenetics,
postnatal cytogenetics, and oncohematology.
Methods. A descriptive analysis was performed of the regional EQA cycles, focusing on analytical concordance and on the type and evolution of non-conformities over time.
Results. Analytical concordance remained consistently high across all EQA cycles, with correct identification of the primary findings in CGH-array and constitutional cytogenetics. Early rounds were mainly characterized by incomplete reporting, International system for human cytogenomic nomenclature (ISCN) inaccuracies, limited interpretive content, and insufficient communication of methodological limitations, whereas more recent cycles showed progressive convergence toward national (SIGU) and international (ACMG/ClinGen, European) standards. In microarray (CGH/SNP-array) exercises, inter-laboratory variability shifted from basic interpretive and reporting deficiencies to more advanced issues of standardization in 2023-2024. Prenatal and postnatal cytogenetics showed progressive improvement in report structure, ISCN compliance, and methodological completeness. Oncohematology remained the most challenging area, with persistent variability in complex karyotype reconstruction despite improved metaphase adequacy and more complete ISCN reporting.
Conclusions. These findings support the role of regionally coordinated EQA schemes in promoting harmonization of cytogenomic practice, continuous quality improvement, and public health governance.

Keywords: cytogenomics, external quality assessment, cytogenetics, chromosomal microarray, oncohematology

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Authors

Fabio Pasotti - Centro Regionale di Coordinamento della Medicina di Laboratorio, Regione Lombardia, Milan, Italy

Valentina Achille - Laboratorio di Genetica Medica, ASST Grande Ospedale Metropolitano Niguarda, Milan, Italy

Simona Da Molin - Centro Regionale di Coordinamento della Medicina di Laboratorio, Regione Lombardia, Milan, Italy

Giovanna Azzarà - Centro Regionale di Coordinamento della Medicina di Laboratorio, Regione Lombardia, Milan, Italy

Giuseppa Liga - Centro Regionale di Coordinamento della Medicina di Laboratorio, Regione Lombardia, Milan, Italy

Giuseppe Moriello - Centro Regionale di Coordinamento della Medicina di Laboratorio, Regione Lombardia, Milan, Italy

Barbara Zaccaria - Centro Regionale di Coordinamento della Medicina di Laboratorio, Regione Lombardia, Milan, Italy

Lorenza Romitti - Laboratorio di Genetica Medica, ASST Grande Ospedale Metropolitano Niguarda, Milan, Italy

Silvia Russo - Laboratorio di Genetica, IRCCS Istituto Auxologico Italiano, Milan, Italy

Maria Iascone - 4Laboratorio di Genetica, ASST Papa Giovanni XXIII, Bergamo, Italy

Sabine Stioui - Laboratorio di Genetica Medica, Centro Diagnostico Italiano SpA, Milan, Italy

Sabrina Buoro - Centro Regionale di Coordinamento della Medicina di Laboratorio, Regione Lombardia, Milan, ItalyCentro Regionale di Coordinamento della Medicina di Laboratorio, Regione Lombardia, Milan, Italy

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This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

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Copyright (c) 2026 Istituto Superiore di Sanità

How to Cite
Pasotti, F., Achille, V., Da Molin, S., Azzarà, G., Liga, G., Moriello, G., Zaccaria, B., Romitti, L., Russo, S., Iascone, M., Stioui, S., & Buoro, S. (2026). External quality assessment programs in cytogenomics in the Lombardy Region, Italy (2018-2024): performance and trends. Annali dell’Istituto Superiore Di Sanità, 62(2), 190–196. https://doi.org/10.4415/ANN_26_02_11
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