Objective: To systematically review the role of aneuploidy detection alone or in combination with other methods in cervical cancer screening and to evaluate the value of aneuploidy to predict the behavior of premalignant cervical lesions.

Method: We conducted a systematic review based on an electronic search for articles published between 2001 and 2020 across databases including MEDLINE/PubMed, Scopus, and Web of Science. Studies were subjected to data extraction, risk of bias, and narrative synthesis.

Results: A total of 15 articles were included in the review. Eight out of 15 studies (53.3%) were judged to be at a high or unclear risk of bias. From the 15 included studies, the index test to detect aneuploidy was DNA image cytometry (DNA-ICM) in 12 studies and DNA flow cytometry (DNA-FCM) in three studies. Nine studies also evaluated the performance of cytology and/or human papillomavirus (HPV) tests. For DNA-ICM, sensitivity to detect cervical intraepithelial neoplasia or worse (CIN2+) varied between 59.0% and 95.9% and specificity varied between 54.1% and 100%. For DNA-FCM, sensitivity varied between 27.3% to 96.8% and specificity was 100%. For cytological evaluation, sensitivity varied between 25.0% and 70.4% and specificity varied between 70.6% and 99.9%. For HPV detection, sensitivity varied between 39.4% and 100% and specificity varied between 23.3% and 84.3%.

Conclusion: DNA ploidy along with atypical cells findings in cytology and/or HPV detection revealed great value to detect CIN2+ lesions and to predict which lesions are more likely to progress to cervical cancer.

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