{"doi":"10.1002/pd.6084","title":"Clinical outcomes of preimplantation genetic testing for hereditary cancer syndromes: A systematic review","abstract":"<jats:title>Abstract</jats:title><jats:sec><jats:title>Objective</jats:title><jats:p>To conduct a systematic review of the published literature on clinical outcomes following preimplantation genetic testing for monogenic disorders (PGT‐M) for hereditary cancer syndromes (HCS).</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>Three electronic databases (PubMed, Cochrane, and EMBASE) were searched for publications related to PGT‐M for HCS. When appropriate, weighted means were used to calculate clinical and live birth rates.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>We identified 22 publications that reported on clinical and/or psychosocial outcomes of PGT‐M for HCS. The weighted mean clinical pregnancy rate (CPR) per embryo was 33.5% (11 studies, 95% CI: 29.1%, 38.2%), and the CPR per cycle with embryonic transfer was 40.1% (14 studies, 95% CI: 36.1%, 44.3%). The weighted mean live birth rate (LBR) per embryo was 28.9% (11 studies, 95% CI: 24.7%, 33.4%) and the LBR per cycle with embryonic transfer was 33.2% (13 studies, 95% CI: 29.2%, 37.4%). The limited literature regarding the psychosocial outcomes of PGT‐M for HCS suggests reproductive decision‐making is difficult and additional support may be desired.</jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats:p>These findings suggest that CPR and LBR following PGT‐M for HCS are comparable to other monogenic disorders. Heterogeneity across studies suggests the overall CPR and LBR found may not be applicable to all HCS indications and PGT‐M methodologies.</jats:p></jats:sec>","journal":"Prenatal Diagnosis","year":2022,"id":654444,"datarank":0.4335557636844247,"base_score":2.8903717578961645,"endowment":2.8903717578961645,"self_citation_contribution":0.4335557636844247,"citation_network_contribution":0.0,"self_endowment_contribution":0.4335557636844247,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":17,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1707987,"name":"Erin P. Carmany","orcid":null,"position":1,"is_corresponding":false},{"id":1707988,"name":"Jaime L. Natoli","orcid":null,"position":2,"is_corresponding":false},{"id":1707986,"name":"Natalie Vriesen","orcid":"0000-0001-9054-7269","position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Clinical outcomes of preimplantation genetic testing for hereditary cancer syndromes: A systematic review","abstract":"<jats:title>Abstract</jats:title><jats:sec><jats:title>Objective</jats:title><jats:p>To conduct a systematic review of the published literature on clinical outcomes following preimplantation genetic testing for monogenic disorders (PGT‐M) for hereditary cancer syndromes (HCS).</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>Three electronic databases (PubMed, Cochrane, and EMBASE) were searched for publications related to PGT‐M for HCS. When appropriate, weighted means were used to calculate clinical and live birth rates.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>We identified 22 publications that reported on clinical and/or psychosocial outcomes of PGT‐M for HCS. The weighted mean clinical pregnancy rate (CPR) per embryo was 33.5% (11 studies, 95% CI: 29.1%, 38.2%), and the CPR per cycle with embryonic transfer was 40.1% (14 studies, 95% CI: 36.1%, 44.3%). The weighted mean live birth rate (LBR) per embryo was 28.9% (11 studies, 95% CI: 24.7%, 33.4%) and the LBR per cycle with embryonic transfer was 33.2% (13 studies, 95% CI: 29.2%, 37.4%). The limited literature regarding the psychosocial outcomes of PGT‐M for HCS suggests reproductive decision‐making is difficult and additional support may be desired.</jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats:p>These findings suggest that CPR and LBR following PGT‐M for HCS are comparable to other monogenic disorders. Heterogeneity across studies suggests the overall CPR and LBR found may not be applicable to all HCS indications and PGT‐M methodologies.</jats:p></jats:sec>","is_dataset_classified":null,"base_score":2.8903717578961645,"endowment":2.8903717578961645,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"34981540","pmcid":null,"openalex_id":"https://openalex.org/W4205786719","authors":[],"funders":[],"total_grants":0,"fwci":1.673,"citation_percentile":0.80068143,"influential_citations":0,"citation_trend":[{"year":2022,"count":3},{"year":2023,"count":6},{"year":2024,"count":3},{"year":2025,"count":4},{"year":2026,"count":1}],"oa_status":"closed","license":"http://onlinelibrary.wiley.com/termsAndConditions#vor","oa_locations":[{"url":"https://onlinelibrary.wiley.com/doi/pdf/10.1002/pd.6084","host_type":"publisher"},{"url":"https://onlinelibrary.wiley.com/doi/full-xml/10.1002/pd.6084","host_type":"publisher"},{"url":"https://obgyn.onlinelibrary.wiley.com/doi/pdf/10.1002/pd.6084","host_type":"publisher"},{"url":"https://doi.org/10.1002/pd.6084","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/34981540","host_type":"repository"}],"fields_of_study":["Prenatal Screening and Diagnostics","BRCA gene mutations in cancer","Genetic factors in colorectal cancer","Female","Genetic Testing","Humans","Neoplastic Syndromes, Hereditary","Outcome Assessment, Health Care","Pregnancy","Pregnancy Outcome","Preimplantation Diagnosis"],"mesh_terms":["Female","Genetic Testing","Humans","Neoplastic Syndromes, Hereditary","Pregnancy","Pregnancy Outcome","Outcome Assessment, Health Care","Preimplantation Diagnosis"],"keywords":["Medicine","Live birth","Genetic testing","Psychosocial","Assisted reproductive technology","Embryo transfer","Pregnancy","Systematic review","Pediatrics","Obstetrics","Infertility","MEDLINE","Internal medicine","Gynecology","Psychiatry","Genetics","Biology"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-11T06:42:10.625236Z","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":[]}