{"doi":"10.1002/pd.6824","title":"Genome‐Wide Cell‐Free DNA Analysis for Aneuploidy Detection in Miscarriages: Test Performance Meta‐Analysis","abstract":"<h4>Objective</h4>To conduct a systematic review and meta-analysis of published series examining the efficacy of genome-wide cell-free DNA (cfDNA) testing in identifying aneuploidy in pregnancies ending in miscarriage.<h4>Methods</h4>A systematic review was conducted encompassing observational studies evaluating aneuploidy detection by genome-wide cfDNA testing in pregnancy losses before 22 weeks of gestation. A hierarchical summary receiver operating curve was employed to assess pooled sensitivity, specificity, and area under the curve (AUC) of genome-wide cfDNA versus genetic diagnostic studies in the detection of aneuploidy. Pooled aneuploidy rate, rate of no-calls, and concordance between cfDNA and diagnostic studies were analyzed using a single proportion meta-analysis based on the inverse of the variance.<h4>Results</h4>Out of 25 eligible series, eight studies were included for analysis, comprising 552 miscarriages with informative results for both cfDNA and diagnostic testing. Pooled sensitivity, specificity, and AUC were 78% (95% CI: 71%-83%), 91% (95% CI: 86%-95%), and 92%, respectively. Pooled aneuploidy rate, the proportion of no-calls, and concordance were 61% (95% CI: 53%-69%), 4% (95% CI: 0%-12%), and 84% (95% CI: 81%-87%), respectively. In cases of positive cfDNA results, the risk of aneuploidy increased to 93%, whereas negative results yielded a 28% risk of aneuploidy.<h4>Conclusion</h4>cfDNA testing demonstrates acceptable accuracy in predicting fetal aneuploidy when employed as a screening test in miscarriages. The main advantage of cfDNA testing is that it does not require the availability of products of conception or prior chorionic villi sampling.","journal":"Prenatal Diagnosis","year":2025,"id":10297,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":0,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.0397,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2025-05-27","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":86430,"name":"Raigam J. Martinez‐Portilla","orcid":"0000-0003-4711-3857","position":1,"is_corresponding":false},{"id":86431,"name":"Ana Cecilia Jara‐Ettinger","orcid":null,"position":2,"is_corresponding":false},{"id":86432,"name":"Victoria Ardiles‐Ruesjas","orcid":"0009-0006-1887-3119","position":3,"is_corresponding":false},{"id":86433,"name":"Antoni Borrell","orcid":null,"position":4,"is_corresponding":false},{"id":86434,"name":"A. Borrell","orcid":"0000-0002-4304-4797","position":5,"is_corresponding":false},{"id":86429,"name":"Montse Pauta","orcid":"0000-0002-5740-4415","position":0,"is_corresponding":true}],"reference_count":45,"raw_metadata":null,"created_at":"2026-03-01T18:20:47.508186Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}