{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T22:04:24Z","timestamp":1792101864146,"version":"4.4.0"},"reference-count":27,"publisher":"Wiley","issue":"13","license":[{"start":{"date-parts":[[2025,6,19]],"date-time":"2025-06-19T00:00:00Z","timestamp":1750291200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100017610","name":"Shenzhen Science and Technology Innovation Program","doi-asserted-by":"publisher","award":["JCYJ20220530162412029"],"award-info":[{"award-number":["JCYJ20220530162412029"]}],"id":[{"id":"10.13039\/501100017610","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2025,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To analyze the ultrasound findings, single nucleotide polymorphism microarray (SNP array) results, pregnancy outcomes, and follow\u2010up information of fetuses with 16p13.11 deletion or duplication.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This retrospective study collected data from 14 fetuses diagnosed with 16p13.11 deletion and 12 fetuses with 16p13.11 duplication. The study involved a review and analysis of maternal demographics, ultrasound findings, SNP\u2010array results, pregnancy outcomes, and follow\u2010up information.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The copy number variations (CNVs) observed ranged in size from 0.92 to 2.85\u2009Mb for 16p13.11 deletions and from 0.89 to 2.84\u2009Mb for duplications. These CNVs included seven OMIM genes: <jats:italic>NDE1<\/jats:italic>, <jats:italic>MYH11<\/jats:italic>, <jats:italic>ABCC1<\/jats:italic>, <jats:italic>XYLT1<\/jats:italic>, <jats:italic>MARF1<\/jats:italic>, <jats:italic>CEP20<\/jats:italic>, and <jats:italic>ABCC6<\/jats:italic>. Among the 14 fetuses with 16p13.11 deletions, seven (50.0%, 7\/14) revealed abnormalities in ultrasound findings. Cardiovascular anomalies were present in five cases (35.7%, 5\/14); two cases (14.3%, 2\/14) showed lateral ventricular widening. Cases 2 and 14 were particularly noteworthy, as both presented complex malformations affecting multiple organs. Among the 12 fetuses with duplications, five cases (41.7%, 5\/12) exhibited ultrasound abnormalities. Of these, three cases (25.0%, 3\/12) presented with cardiovascular abnormalities; two cases (16.7%, 2\/12) displayed widened lateral ventricles. Case 25 was particularly distinct, featuring complex multiorgan malformations that included widened lateral ventricles, tricuspid regurgitation, and a right ear malformation. Of the eight fetuses with 16p13.11 deletions whose pregnancies were continued, three exhibited neurodevelopmental abnormalities. Ten fetuses with 16p13.11 duplications that were followed up, two cases showed neurodevelopmental abnormalities.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our study expanded the clinical phenotype spectrum of fetuses with 16p13.11 deletion and duplication and conducted a preliminary evaluation of prenatal ultrasound findings in conjunction with postnatal clinical phenotypes. The primary manifestations observed in fetuses with 16p13.11 deletion and duplication are likely to be cardiovascular malformations and widened lateral ventricles.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jcla.70051","type":"journal-article","created":{"date-parts":[[2025,6,19]],"date-time":"2025-06-19T08:58:55Z","timestamp":1750323535000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Prenatal Diagnosis, Ultrasound Findings, and Follow\u2010Up Evaluation of 16p13.11 Deletion and Duplication Syndromes: Preliminary Assessment of Fetal Genotype\u2013Phenotype"],"prefix":"10.1002","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3802-5345","authenticated-orcid":false,"given":"Xiaojin","family":"Luo","sequence":"first","affiliation":[{"name":"The Genetics Laboratory Longgang District Maternity &amp; Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College)  Shenzhen Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liping","family":"Wu","sequence":"additional","affiliation":[{"name":"The Genetics Laboratory Longgang District Maternity &amp; Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College)  Shenzhen Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jinshuang","family":"Song","sequence":"additional","affiliation":[{"name":"The Genetics Laboratory Longgang District Maternity &amp; Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College)  Shenzhen Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jinmao","family":"Xu","sequence":"additional","affiliation":[{"name":"The Genetics Laboratory Longgang District Maternity &amp; Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College)  Shenzhen Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruchun","family":"Huang","sequence":"additional","affiliation":[{"name":"The Genetics Laboratory Longgang District Maternity &amp; Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College)  Shenzhen Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongyan","family":"Niu","sequence":"additional","affiliation":[{"name":"The Genetics Laboratory Longgang District Maternity &amp; Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College)  Shenzhen Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fei","family":"Zhou","sequence":"additional","affiliation":[{"name":"The Genetics Laboratory Longgang District Maternity &amp; Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College)  Shenzhen Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuanyuan","family":"Pei","sequence":"additional","affiliation":[{"name":"The Genetics Laboratory Longgang District Maternity &amp; Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College)  Shenzhen Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weiqiang","family":"Liu","sequence":"additional","affiliation":[{"name":"The Genetics Laboratory Longgang District Maternity &amp; Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College)  Shenzhen Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fengxiang","family":"Wei","sequence":"additional","affiliation":[{"name":"The Genetics Laboratory Longgang District Maternity &amp; Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College)  Shenzhen Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,6,19]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31822c79f9"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.1159\/000330267"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.184"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2024.1486974"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0061365"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.2174"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2012.164"},{"key":"e_1_2_13_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.24888"},{"key":"e_1_2_13_10_1","doi-asserted-by":"publisher","DOI":"10.2478\/bjmg\u20102021\u20100010"},{"key":"e_1_2_13_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439\u2010015\u20101567\u20100"},{"key":"e_1_2_13_12_1","doi-asserted-by":"publisher","DOI":"10.1515\/med\u20102024\u20101025"},{"key":"e_1_2_13_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2023.104714"},{"key":"e_1_2_13_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.redox.2024.103218"},{"key":"e_1_2_13_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010019\u20100594\u2010y"},{"key":"e_1_2_13_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet\u20102020\u2010107"},{"key":"e_1_2_13_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.isci.2022.104354"},{"key":"e_1_2_13_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroscience.2014.04.03"},{"key":"e_1_2_13_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401\u2010023\u201002665\u2010y"},{"key":"e_1_2_13_20_1","doi-asserted-by":"publisher","DOI":"10.1098\/rsob.170153"},{"key":"e_1_2_13_21_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12884\u2010022\u201005267\u2010w"},{"key":"e_1_2_13_22_1","doi-asserted-by":"publisher","DOI":"10.1159\/000517762"},{"key":"e_1_2_13_23_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet\u20102018\u2010105"},{"key":"e_1_2_13_24_1","doi-asserted-by":"publisher","DOI":"10.1515\/jpm\u20102022\u20100580"},{"key":"e_1_2_13_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/jdn.10188"},{"key":"e_1_2_13_26_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2024.1458953"},{"key":"e_1_2_13_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6160"},{"key":"e_1_2_13_28_1","doi-asserted-by":"publisher","DOI":"10.1111\/jar.12977"}],"container-title":["Journal of Clinical Laboratory Analysis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jcla.70051","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,7,2]],"date-time":"2025-07-02T13:58:51Z","timestamp":1751464731000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jcla.70051"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,6,19]]},"references-count":27,"journal-issue":{"issue":"13","published-print":{"date-parts":[[2025,7]]}},"alternative-id":["10.1002\/jcla.70051"],"URL":"https:\/\/doi.org\/10.1002\/jcla.70051","archive":["Portico"],"relation":{},"ISSN":["0887-8013","1098-2825"],"issn-type":[{"value":"0887-8013","type":"print"},{"value":"1098-2825","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,6,19]]},"assertion":[{"value":"2024-11-06","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-04-27","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-06-19","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70051"}}