{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,16]],"date-time":"2026-05-16T01:04:53Z","timestamp":1778893493169,"version":"3.51.4"},"reference-count":24,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2024,6,14]],"date-time":"2024-06-14T00:00:00Z","timestamp":1718323200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004047","name":"Karolinska Institutet","doi-asserted-by":"publisher","award":["2022\u201002124"],"award-info":[{"award-number":["2022\u201002124"]}],"id":[{"id":"10.13039\/501100004047","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004359","name":"Vetenskapsr\u00e5det","doi-asserted-by":"publisher","award":["2019\u201002078"],"award-info":[{"award-number":["2019\u201002078"]}],"id":[{"id":"10.13039\/501100004359","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acta Obstet Gynecol Scand"],"published-print":{"date-parts":[[2024,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>Distinguishing paracentric inversions (PAIs) from chromosomal insertions has traditionally relied on fluorescent in\u00a0situ hybridization (FISH) techniques, but recent advancements in high\u2010throughput sequencing have enabled the use of genome sequencing for such differentiation. In this study, we present a 38\u2010year\u2010old male carrier of a paracentric inversion on chromosome 2q, inv (2)(q31.2q34), whose partner experienced recurrent miscarriages.<\/jats:p><\/jats:sec><jats:sec><jats:title>Material and Methods<\/jats:title><jats:p>FISH analysis confirmed the inversion, and genome sequencing was employed for detailed characterization.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Preimplantation genetic testing (PGT) revealed that all assessed embryos were balanced, consistent with the low risk of unbalanced offspring associated with PAIs. While PAI carriers traditionally exhibit low risk of producing unbalanced offspring, exceptions exist due to crossover events within the inversion loop. Although the sample size was limited, the findings align with existing sperm study data, supporting the rare occurrence of unbalanced progeny in PAI carriers.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This study highlights the possibility of characterizing PAIs using genome sequencing to enable correct reproductive counseling and PGT decisions. Detailed characterization of a PAI is crucial for understanding potential outcomes and guiding PGT strategies, as accurate knowledge of the inversion size is essential for appropriate method selection in PGT. Given the very low risk of unbalanced offspring in PAI carriers, routine PGT may not be warranted but should be considered in specific cases with a history of unbalanced progeny or recurrent miscarriages. This study contributes to our understanding of PAI segregation and its implications for reproductive outcomes.<\/jats:p><\/jats:sec>","DOI":"10.1111\/aogs.14898","type":"journal-article","created":{"date-parts":[[2024,6,14]],"date-time":"2024-06-14T07:19:06Z","timestamp":1718349546000},"page":"1564-1569","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Genome sequencing differentiates a paracentric inversion from a balanced insertion enabling more accurate preimplantation genetic testing"],"prefix":"10.1111","volume":"103","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1698-9605","authenticated-orcid":false,"given":"Josephine","family":"Wincent","sequence":"first","affiliation":[{"name":"Department of Molecular Medicine and Surgery Karolinska Institutet  Stockholm Sweden"},{"name":"Clinical Genetics and Genomics Karolinska University Hospital  Stockholm Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hafd\u00eds T.","family":"Helgad\u00f3ttir","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Surgery Karolinska Institutet  Stockholm Sweden"},{"name":"Clinical Genetics and Genomics Karolinska University Hospital  Stockholm Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fotios","family":"Sergouniotis","sequence":"additional","affiliation":[{"name":"Department of Reproductive Medicine Karolinska University Hospital  Stockholm Sweden"},{"name":"Department of Obstetrics and Gynecology Karolinska University Hospital  Stockholm Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angelo","family":"Salazar\u00a0Mantero","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Surgery Karolinska Institutet  Stockholm Sweden"},{"name":"Clinical Genetics and Genomics Karolinska University Hospital  Stockholm Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudia M. B.","family":"Carvalho","sequence":"additional","affiliation":[{"name":"Pacific Northwest Research Institute  Seattle Washington USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helena","family":"Malmgren","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Surgery Karolinska Institutet  Stockholm Sweden"},{"name":"Clinical Genetics and Genomics Karolinska University Hospital  Stockholm Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Lindstrand","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Surgery Karolinska Institutet  Stockholm Sweden"},{"name":"Clinical Genetics and Genomics Karolinska University Hospital  Stockholm Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3827-0263","authenticated-orcid":false,"given":"Erik","family":"Iwarsson","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Surgery Karolinska Institutet  Stockholm Sweden"},{"name":"Clinical Genetics and Genomics Karolinska University Hospital  Stockholm Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,6,14]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10173"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/med\/9780199329007.003.0009"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00207032"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291590"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00197403"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.3083"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13073-019-0675-1"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23146"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24106"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13073-021-00855-5"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/nbt.1754"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.229202"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1159\/000086903"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291594"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/genetics\/26.2.234"},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00284590"},{"key":"e_1_2_12_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/del317"},{"key":"e_1_2_12_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.fertnstert.2016.10.013"},{"key":"e_1_2_12_20_1","doi-asserted-by":"publisher","DOI":"10.2478\/bjmg-2014-0025"},{"key":"e_1_2_12_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00273848"},{"key":"e_1_2_12_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320550207"},{"key":"e_1_2_12_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00272985"},{"key":"e_1_2_12_24_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12958-020-00635-7"},{"key":"e_1_2_12_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.fertnstert.2019.03.041"}],"container-title":["Acta Obstetricia et Gynecologica Scandinavica"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/aogs.14898","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,6]],"date-time":"2025-04-06T10:45:05Z","timestamp":1743936305000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1111\/aogs.14898"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6,14]]},"references-count":24,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2024,8]]}},"alternative-id":["10.1111\/aogs.14898"],"URL":"https:\/\/doi.org\/10.1111\/aogs.14898","archive":["Portico"],"relation":{},"ISSN":["0001-6349","1600-0412"],"issn-type":[{"value":"0001-6349","type":"print"},{"value":"1600-0412","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,6,14]]},"assertion":[{"value":"2023-11-10","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-05-26","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-06-14","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}