{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T02:33:28Z","timestamp":1792982008245,"version":"4.5.0"},"reference-count":22,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T00:00:00Z","timestamp":1792022400000},"content-version":"vor","delay-in-days":14,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:00:00Z","timestamp":1790812800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100017594","name":"Medical Science and Technology Project of Zhejiang Province","doi-asserted-by":"publisher","award":["Grant No. 2023KY1155"],"award-info":[{"award-number":["Grant No. 2023KY1155"]}],"id":[{"id":"10.13039\/501100017594","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2026,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Prenatal interpretation of 16p13.11 microduplication remains difficult in daily practice, mainly because the same duplication may be associated with very different clinical outcomes. In this study, we reviewed fetuses diagnosed with 16p13.11 microduplication at our center and summarized their prenatal findings, pregnancy outcomes, and postnatal development to provide data that may be useful in prenatal counseling.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We retrospectively reviewed 12,038 pregnant women who underwent amniocentesis at Wenzhou Central Hospital between 2014 and 2025. Chromosomal microarray analysis was performed in all cases. For fetuses carrying 16p13.11 microduplication, we reviewed the indication for amniocentesis, ultrasound findings, pregnancy outcome, and available postnatal follow\u2010up information.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Chromosomal microarray analysis (CMA) identified 16p13.11 microduplication in 19 fetuses, with duplication sizes ranging from 0.80 to 1.60\u2009Mb. The main indications for prenatal diagnosis were advanced maternal age (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20097), adverse pregnancy history (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20095), ultrasound abnormalities (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20094), and high\u2010risk serum screening results (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20093). Three pregnancies were terminated. Sixteen infants were live\u2010born, of whom two were lost to follow\u2010up. Among the remaining 14 children, the follow\u2010up period ranged from 10\u2009months to 10\u2009years. One infant was hospitalized at birth for a ventricular septal defect, and one child showed growth and developmental delay. Five children showed better growth and development than their peers, whereas seven had no apparent abnormalities during follow\u2010up.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>The follow\u2010up results in our cohort are consistent with the incomplete penetrance and variable outcomes reported for 16p13.11 microduplication. In this cohort, most live\u2010born children showed mild or no clinical manifestations. In prenatal counseling, this CNV should be discussed together with fetal imaging results, inheritance pattern, family history, and available follow\u2010up data rather than interpreted as an isolated finding.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.70324","type":"journal-article","created":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T11:30:36Z","timestamp":1792063836000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Prenatal Diagnosis and Postnatal Follow\u2010Up of 19 Fetuses With 16p13.11 Microduplication in a Cohort of 12,038 Pregnancies From South Zhejiang"],"prefix":"10.1002","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-6731-8791","authenticated-orcid":false,"given":"Xiaoxiao","family":"Lv","sequence":"first","affiliation":[{"name":"Wenzhou Central Hospital  Wenzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shufei","family":"Li","sequence":"additional","affiliation":[{"name":"Wenzhou Central Hospital  Wenzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lili","family":"Zhou","sequence":"additional","affiliation":[{"name":"Wenzhou Central Hospital  Wenzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruipu","family":"Wang","sequence":"additional","affiliation":[{"name":"Wenzhou Central Hospital  Wenzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuan","family":"Yu","sequence":"additional","affiliation":[{"name":"Wenzhou Central Hospital  Wenzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chenyang","family":"Xu","sequence":"additional","affiliation":[{"name":"Wenzhou Central Hospital  Wenzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xueqin","family":"Xu","sequence":"additional","affiliation":[{"name":"Wenzhou Central Hospital  Wenzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaohua","family":"Tang","sequence":"additional","affiliation":[{"name":"Wenzhou Central Hospital  Wenzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4625-3057","authenticated-orcid":false,"given":"Huanzheng","family":"Li","sequence":"additional","affiliation":[{"name":"Wenzhou Central Hospital  Wenzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,10,15]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37595"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12884\u2010022\u201005267\u2010w"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.3390\/jpm10040160"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.AOG.0000438962.16108.d1"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2012.02.014"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881\u2010014\u20100116\u20103"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.03.010"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2023.104714"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.055202"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.03297"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1999.5927"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcla.70051"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.184"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13039\u2010025\u201000736\u20101"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMsr1406261"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010019\u20100686\u20108"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439\u2010008\u20100513\u20109"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12884\u2010025\u201008467\u20102"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20546"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1172\/jci193499"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1097\/md.0000000000049059"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2024.1486974"}],"container-title":["Molecular Genetics &amp; 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