{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T22:52:05Z","timestamp":1791067925673,"version":"4.1.0"},"reference-count":22,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T00:00:00Z","timestamp":1790985600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T00:00:00Z","timestamp":1790985600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      To present the prenatal sonographic features and genomic spectrum of pregnancies with fetuses with a\n                      <jats:italic>DLL1<\/jats:italic>\n                      single\u2010nucleotide variant (SNV) or a pure 6q27 deletion.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      This was a retrospective study of 20 cases with a\n                      <jats:italic>DLL1<\/jats:italic>\n                      SNV or a pure 6q27 deletion diagnosed by prenatal genetic testing. Clinical and laboratory data were collected and reviewed for these cases, including maternal demographics, prenatal sonographic findings, molecular testing results, and pregnancy outcomes.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      One case was diagnosed in the first trimester due to increased nuchal translucency. Thirteen cases received diagnoses in the second trimester: one resulted from abnormal non\u2010invasive prenatal testing, one had isolated cerebellar hypoplasia, six involving isolated ventriculomegaly, and five attributed to non\u2010isolated ventriculomegaly. Six additional cases were diagnosed in the third trimester. Copy number variations involving deletions of\n                      <jats:italic>DLL1<\/jats:italic>\n                      were identified in 10 cases, and SNVs of\n                      <jats:italic>DLL1<\/jats:italic>\n                      were found in an additional 10 cases.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Our study highlights that even nonspecific findings of central nervous system on prenatal ultrasound may justify exome sequencing.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/pd.70265","type":"journal-article","created":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T21:53:36Z","timestamp":1791064416000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Prenatal Sonographic Features of Heterozygous\n                    <i>DLL1<\/i>\n                    Single\u2010Nucleotide Variants and 6q27 Deletions: A Single Referral Center Retrospective Case Series"],"prefix":"10.1002","author":[{"given":"Xiang\u2010Yi","family":"Jing","sequence":"first","affiliation":[{"name":"Prenatal Diagnostic Center Guangzhou Women and Children's Medical Center Guangzhou Medical University  Guangzhou Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiu\u2010Xia","family":"Yu","sequence":"additional","affiliation":[{"name":"Prenatal Diagnostic Center Guangzhou Women and Children's Medical Center Guangzhou Medical University  Guangzhou Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yong\u2010Ling","family":"Zhang","sequence":"additional","affiliation":[{"name":"Prenatal Diagnostic Center Guangzhou Women and Children's Medical Center Guangzhou Medical University  Guangzhou Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jia\u2010Chun","family":"Guo","sequence":"additional","affiliation":[{"name":"Prenatal Diagnostic Center Guangzhou Women and Children's Medical Center Guangzhou Medical University  Guangzhou Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Si\u2010Yun","family":"Li","sequence":"additional","affiliation":[{"name":"Prenatal Diagnostic Center Guangzhou Women and Children's Medical Center Guangzhou Medical University  Guangzhou Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ru","family":"Li","sequence":"additional","affiliation":[{"name":"Prenatal Diagnostic Center Guangzhou Women and Children's Medical Center Guangzhou Medical University  Guangzhou Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4583-6800","authenticated-orcid":false,"given":"Dong\u2010Zhi","family":"Li","sequence":"additional","affiliation":[{"name":"Prenatal Diagnostic Center Guangzhou Women and Children's Medical Center Guangzhou Medical University  Guangzhou Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,10,3]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrn1847"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cld.2018.06.001"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23567"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.5.333"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2021.04.018"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010023\u201002658\u2010w"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.07.002"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6074"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.00005.2017"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.3981"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1055\/s\u20100042\u20101743568"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2025.1640775"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2018.04.039"},{"issue":"2","key":"e_1_2_10_16_1","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1055\/s-0040-1715086","article-title":"Outcomes 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