{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,7]],"date-time":"2025-05-07T04:17:37Z","timestamp":1746591457805,"version":"3.40.5"},"reference-count":6,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2025,4,3]],"date-time":"2025-04-03T00:00:00Z","timestamp":1743638400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100002855","name":"Ministry of Science and Technology of the People's Republic of China","doi-asserted-by":"publisher","award":["2022YFC2703301"],"award-info":[{"award-number":["2022YFC2703301"]}],"id":[{"id":"10.13039\/501100002855","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":[[2025,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>We present a case of a fetus from a Chinese family. Ultrasound examination during the second trimester revealed increased fetal abdominal circumference, enlarged liver, tent\u2010like mouth, frequent tongue movement, micro\u2010fist\u2010like hands in fixed positions, hydronephrosis with bilateral ectopic ureteral openings, scrotal echoes visible in the external genitalia, no significant penile echo, and polyhydramnios. To determine the genetic cause of this fetus, we performed a prenatal diagnosis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>Trio whole\u2010exome sequencing (trio\u2010WES) was performed on the fetus and his parents to identify the genetic cause, and subsequent verification was performed by Sanger sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A compound heterozygous variation in the <jats:italic>PIGW<\/jats:italic> gene was identified by trio\u2010WES. The frameshift variant (NM_178517.5: c.617_620del, p.Val206fs) was inherited from the unaffected mother, and the novel missense variant (NM_178517.5: c.842T&gt;G, p.Leu281Arg) was inherited from the unaffected father.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>To our knowledge, the current prenatal reports on <jats:italic>PIGW<\/jats:italic> remain extremely limited. Our report expands the prenatal phenotype associated with this gene, such as the first detection of abnormal fetal activities in utero, including frequent tongue movements and fixed hand positions.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.6788","type":"journal-article","created":{"date-parts":[[2025,4,4]],"date-time":"2025-04-04T03:04:49Z","timestamp":1743735889000},"page":"693-698","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Prenatal Ultrasound Observations and Postnatal Manifestations Linked to <i>PIGW<\/i> Variants"],"prefix":"10.1002","volume":"45","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-1449-5628","authenticated-orcid":false,"given":"Xin","family":"Chen","sequence":"first","affiliation":[{"name":"Department of Diagnostic Ultrasound West China Second University Hospital Sichuan University  Chengdu China"},{"name":"Key Laboratory of Obstetric &amp; Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jing","family":"Chen","sequence":"additional","affiliation":[{"name":"Key Laboratory of Obstetric &amp; Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education  Chengdu China"},{"name":"Department of Medical Genetic\/Prenatal Diagnostic Center West China Second University Hospital Sichuan University  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kunkun","family":"Qiang","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Ultrasound West China Second University Hospital Sichuan University  Chengdu China"},{"name":"Key Laboratory of Obstetric &amp; Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7757-1683","authenticated-orcid":false,"given":"Hong","family":"Luo","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Ultrasound West China Second University Hospital Sichuan University  Chengdu China"},{"name":"Key Laboratory of Obstetric &amp; Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,4,3]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet\u20102013\u2010102156"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6204"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431\u2010018\u20100324\u2010y"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10072\u2010023\u201007225\u20106"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37950"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2018.05.010"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6788","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,6]],"date-time":"2025-05-06T13:45:47Z","timestamp":1746539147000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.6788"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4,3]]},"references-count":6,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2025,5]]}},"alternative-id":["10.1002\/pd.6788"],"URL":"https:\/\/doi.org\/10.1002\/pd.6788","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"type":"print","value":"0197-3851"},{"type":"electronic","value":"1097-0223"}],"subject":[],"published":{"date-parts":[[2025,4,3]]},"assertion":[{"value":"2024-12-06","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-03-20","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-04-03","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}