{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T15:49:30Z","timestamp":1747151370736,"version":"3.40.5"},"reference-count":5,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2023,8,2]],"date-time":"2023-08-02T00:00:00Z","timestamp":1690934400000},"content-version":"vor","delay-in-days":1,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2023,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A 26\u00a0year old nulligravida presented at 24\u00a0weeks gestation for the second opinion of abnormal fetal profile and mid\u2010face views on ultrasound at another institution. A detailed fetal anatomic ultrasound at our facility revealed the absence of fetal lens and globes bilaterally consistent with bilateral anophthalmia (HP: 0000528) without other anomalies. Karyotype and chromosomal microarray analysis were completed from amniocentesis sample. After these results, duo exome testing with paternal sequencing was completed from proband amniotic fluid sample and parental blood samples. A pathogenic variant in SOX2 (NM_003106.3: c.513C&gt;G p.(Tyr171*Ter)) with heterozygous autosomal dominant inheritance resulted. On duo exome testing with paternal segregation analysis, the variant was found to be consistent with likely sporadic de novo inheritance. The SOX2 variant reported is consistent with the fetal phenotype in this case. While germline mosaicism could exist, this identified variant provided the family with a likely explanation for this proband's finding. This ultrasound and genetic testing allowed the family to make decisions related to planning in current and future pregnancies.<\/jats:p>","DOI":"10.1002\/pd.6416","type":"journal-article","created":{"date-parts":[[2023,8,2]],"date-time":"2023-08-02T08:59:45Z","timestamp":1690966785000},"page":"1251-1254","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Prenatal diagnosis of bilateral anophthalmia: Identifying de novo SOX2 variant"],"prefix":"10.1002","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4628-7495","authenticated-orcid":false,"given":"Jennifer","family":"Kidd","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology NYU Langone Health \u2013 Long Island  Mineola New York USA"},{"name":"NYU Long Island School of Medicine  Mineola New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth","family":"Patberg","sequence":"additional","affiliation":[{"name":"Obstetrix Medical Group of the Central Coast  Santa Barbara California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meghan","family":"McGath","sequence":"additional","affiliation":[{"name":"Division of Pediatrics NYU Langone Health \u2013 Long Island  Mineola New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Berrin","family":"Monteleone","sequence":"additional","affiliation":[{"name":"NYU Long Island School of Medicine  Mineola New York USA"},{"name":"Division of Clinical Genetics NYU Langone Health \u2013 Long Island  Mineola New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin","family":"Chavez","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology NYU Langone Health \u2013 Long Island  Mineola New York USA"},{"name":"NYU Long Island School of Medicine  Mineola New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,8,2]]},"reference":[{"doi-asserted-by":"publisher","key":"e_1_2_9_2_1","DOI":"10.1038\/gim.2015.148"},{"doi-asserted-by":"publisher","key":"e_1_2_9_3_1","DOI":"10.1016\/j.ajog.2019.08.054"},{"doi-asserted-by":"publisher","key":"e_1_2_9_4_1","DOI":"10.1136\/bcr\u20102021\u2010244684"},{"doi-asserted-by":"publisher","key":"e_1_2_9_5_1","DOI":"10.1111\/cge.12275"},{"volume-title":"GeneReviews\u00ae","year":"1993","author":"Williamson KA","key":"e_1_2_9_6_1"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6416","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,14]],"date-time":"2023-08-14T16:31:00Z","timestamp":1692030660000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.6416"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,8]]},"references-count":5,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2023,8]]}},"alternative-id":["10.1002\/pd.6416"],"URL":"https:\/\/doi.org\/10.1002\/pd.6416","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"type":"print","value":"0197-3851"},{"type":"electronic","value":"1097-0223"}],"subject":[],"published":{"date-parts":[[2023,8]]},"assertion":[{"value":"2023-04-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-07-21","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-08-02","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}