{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T14:27:07Z","timestamp":1787840827740,"version":"build-2784847793"},"reference-count":34,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"5","license":[{"start":{"date-parts":[[2025,3,11]],"date-time":"2025-03-11T00:00:00Z","timestamp":1741651200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-sa\/4.0"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2025,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Individuals with congenital absence of the vas deferens (CAVD) may transmit cystic fibrosis (CF)-causing variants of the cystic fibrosis transmembrane conductance regulator (\n                    <jats:italic toggle=\"yes\">CFTR<\/jats:italic>\n                    ) gene to their offspring through assisted reproductive technology (ART). We aimed to delineate the spectrum and estimate the prevalence of CF-causing variants in Chinese individuals with CAVD through a cohort analysis and meta-analysis.\n                    <jats:italic toggle=\"yes\">CFTR<\/jats:italic>\n                    was sequenced in 145 Chinese individuals with CAVD.\n                    <jats:italic toggle=\"yes\">CFTR<\/jats:italic>\n                    variants were classified as CF-causing or non-CF-causing variants regarding clinical significance. A comprehensive genotype analysis was performed in Chinese individuals with CAVD, incorporating previous studies and our study cohort. The prevalence of CF-causing variants was estimated through meta-analysis. In our cohort, 56 different\n                    <jats:italic toggle=\"yes\">CFTR<\/jats:italic>\n                    variants were identified in 108 (74.5%) patients. Twenty variants were categorized as CF-causing and were detected in 28 (19.3%) patients. A comprehensive genotype analysis of 867 patients identified 174 different\n                    <jats:italic toggle=\"yes\">CFTR<\/jats:italic>\n                    variants. Sixty-four were classified as CF-causing variants, 56.3% of which had not been previously reported in Chinese patients with CF. Meta-analysis showed that 14.8% (95% confidence interval [CI]: 11.0%\u201318.9%) CAVD cases harbored one CF-causing variant, and 68.6% (95% CI: 65.1%\u201372.0%) CAVD cases carried at least one\n                    <jats:italic toggle=\"yes\">CFTR<\/jats:italic>\n                    variant. Our study underscores the urgent need for extensive\n                    <jats:italic toggle=\"yes\">CFTR<\/jats:italic>\n                    screening, including sequencing of whole exons and flanking regions and detection of large rearrangements and deep intronic CF-causing variants, in Chinese individuals with CAVD before undergoing ART. The established CF-causing variants spectrum may aid in the development of genetic counseling strategies and preimplantation diagnosis to prevent the birth of a child with CF.\n                  <\/jats:p>","DOI":"10.4103\/aja2024124","type":"journal-article","created":{"date-parts":[[2025,3,11]],"date-time":"2025-03-11T03:00:27Z","timestamp":1741662027000},"page":"611-620","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":3,"title":["Cystic fibrosis-causing variants in Chinese patients with congenital absence of the vas deferens: a cohort and meta-analysis"],"prefix":"10.4103","volume":"27","author":[{"given":"Yi","family":"Lu","sequence":"first","affiliation":[{"name":"Department of Urology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Developmental Biology, School of Basic Medical Sciences, Capital Medical University, Beijing 100069, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhong-Lin","family":"Cai","sequence":"additional","affiliation":[{"name":"Department of Urology, Gongli Hospital of Shanghai Pudong New Area, Shanghai 200135, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teng-Yan","family":"Li","sequence":"additional","affiliation":[{"name":"Center for Genetics, National Research Institute for Family Planning, Beijing 100081, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong-Jun","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Urology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bin-Bin","family":"Wang","sequence":"additional","affiliation":[{"name":"Center for Genetics, National Research Institute for Family Planning, Beijing 100081, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2025,3,11]]},"reference":[{"key":"R1-20250825","doi-asserted-by":"crossref","first-page":"775123","DOI":"10.3389\/fgene.2022.775123","article-title":"Congenital bilateral absence of the vas deferens","volume":"13","author":"Cai","year":"2022","journal-title":"Front Genet"},{"key":"R2-20250825","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1093\/humrep\/der377","article-title":"CFTR mutations in men with congenital bilateral absence of the vas deferens (CBAVD):a systemic review and meta-analysis","volume":"27","author":"Yu","year":"2012","journal-title":"Hum 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