{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T07:45:50Z","timestamp":1791877550212,"version":"4.3.4"},"reference-count":57,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2026,6,29]],"date-time":"2026-06-29T00:00:00Z","timestamp":1782691200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,6,29]],"date-time":"2026-06-29T00:00:00Z","timestamp":1782691200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100017520","name":"Chengdu Medical College","doi-asserted-by":"publisher","award":["24LHFYSZ1\u201020"],"award-info":[{"award-number":["24LHFYSZ1\u201020"]}],"id":[{"id":"10.13039\/100017520","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2026,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>Partial gene duplications (PGDups) are a significant contributor to genetic disease. The precise genomic location and structure of PGDups are often unresolved using conventional methods, so prenatal diagnosis for PGDups is challenging, especially without ultrasound abnormalities.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We retrospectively applied structural variation sequencing (SVseq) to 26 amniotic fluid samples with PGDups initially identified by chromosomal microarray or sequencing. SVseq utilized mate\u2010pair library construction and high\u2010throughput sequencing to map PGDup structures. Pathogenicity was classified using ACMG guidelines, followed by postnatal phenotypic follow\u2010up.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>SVseq deciphered the PGDup structure for all twenty\u2010six cases. Twenty\u2010two (84.62%) were tandem duplications (TDs), three (11.54%) chromosomal complex rearrangements (CCRs), and one (3.85%) had no duplication. Among twenty\u2010two TDs, thirteen were extragenic (TDEG), preserving gene integrity, and were classified as benign or variants of uncertain significance (VUS). Nine were intragenic (TDIG), disrupting gene structure, and were rated pathogenic or likely pathogenic (P\/LP) or VUS. Postnatal follow\u2010up revealed obvious abnormal phenotypes in only two TDIG cases (one inherited and one de novo).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>SVseq effectively resolves PGDup location and structure, allowing confident pathogenicity assessment and clear genotype\u2010phenotype correlation. SVseq is a robust method for prenatal PGDup evaluation that could be adopted in diagnostic protocols to improve clinical outcomes.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/pd.70209","type":"journal-article","created":{"date-parts":[[2026,6,29]],"date-time":"2026-06-29T15:40:01Z","timestamp":1782747601000},"page":"1732-1745","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Structural Variation Sequencing of 26 Amniotic Fluid Samples With Partial Gene Duplications and Postnatal Follow\u2010Up of the Fetuses"],"prefix":"10.1002","volume":"46","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9391-890X","authenticated-orcid":false,"given":"Shengfang","family":"Qin","sequence":"first","affiliation":[{"name":"Department of Medical Genetics and Prenatal Diagnosis Sichuan Provincial Women's and Children's Hospital\/The Affiliated Women's and Children's Hospital of Chengdu Medical College  Chengdu Sichuan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8764-5658","authenticated-orcid":false,"given":"Xueyan","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Prenatal Diagnosis Sichuan Provincial Women's and Children's Hospital\/The Affiliated Women's and Children's Hospital of Chengdu Medical College  Chengdu Sichuan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mengjia","family":"Yan","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Prenatal Diagnosis Sichuan Provincial Women's and Children's Hospital\/The Affiliated Women's and Children's Hospital of Chengdu Medical College  Chengdu Sichuan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuxia","family":"He","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Prenatal Diagnosis Sichuan Provincial Women's and Children's Hospital\/The Affiliated Women's and Children's Hospital of Chengdu Medical College  Chengdu Sichuan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhuo","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Prenatal Diagnosis Sichuan Provincial Women's and Children's Hospital\/The Affiliated Women's and Children's Hospital of Chengdu Medical College  Chengdu Sichuan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Yin","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Prenatal Diagnosis Sichuan Provincial Women's and Children's Hospital\/The Affiliated Women's and Children's Hospital of Chengdu Medical College  Chengdu Sichuan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jin","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Prenatal Diagnosis Sichuan Provincial Women's and 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