{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T01:25:48Z","timestamp":1769045148940,"version":"3.49.0"},"reference-count":4,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2024,11,22]],"date-time":"2024-11-22T00:00:00Z","timestamp":1732233600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["No.2021YFC1005300"],"award-info":[{"award-number":["No.2021YFC1005300"]}],"id":[{"id":"10.13039\/501100012166","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":[[2025,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities (NDDRSB) is an extremely rare but severe disorder. Here, we describe the case of a 24\u2010week\u2010old fetus from a Chinese family with healthy parents. The fetus presented with hydrops fetalis and abnormal limb posturing. Chromosomal microarray analysis revealed that the fetus had a heterozygous 17p12 deletion, which is associated with hereditary neuropathy with liability to pressure palsies. Trio\u2010based exome sequencing (ES) analysis revealed that the deletion was inherited from the father, who has a normal phenotype. Trio\u2010based ES identified a novel nonsense variant (c.229C&gt;T, p.Q77*) and a rare nonsense variant (c.325C&gt;T, p.R109*) in the mediator complex subunit 11 (<jats:italic>MED11<\/jats:italic>) gene. Both parents were heterozygous carriers for one of the variants in <jats:italic>MED11<\/jats:italic>. This is the first study to report the presence of hydrops fetalis and abnormal limb posturing phenotypes in fetuses with <jats:italic>MED11<\/jats:italic> variants. These results expand the prenatal phenotypic spectrum of NDDRSB, which is helpful for genetic counseling and early prenatal diagnosis of fetuses with ultrasound abnormalities. In addition, the novel c.229C&gt;T variant expands the spectrum of <jats:italic>MED11<\/jats:italic> variants.<\/jats:p>","DOI":"10.1002\/pd.6707","type":"journal-article","created":{"date-parts":[[2024,11,23]],"date-time":"2024-11-23T07:24:09Z","timestamp":1732346649000},"page":"129-133","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Prenatal Phenotypic Expansion: A Fetus With Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, and Brain Abnormalities (NDDRSB) and <i>MED11<\/i> Variants"],"prefix":"10.1002","volume":"45","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3149-1511","authenticated-orcid":false,"given":"Cong","family":"Zhou","sequence":"first","affiliation":[{"name":"Department of Medical Genetics \/ Prenatal Diagnostic Center West China Second University Hospital Sichuan University  Chengdu China"},{"name":"Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University) Ministry of Education  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Weilin","family":"Wang","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Biotherapy Collaborative Innovation Center of Biotherapy and Cancer Center West China Hospital of Sichuan University  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hao","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics \/ Prenatal Diagnostic Center West China Second University Hospital Sichuan University  Chengdu China"},{"name":"Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University) Ministry of Education  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jingqun","family":"Mai","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics \/ Prenatal Diagnostic Center West China Second University Hospital Sichuan University  Chengdu China"},{"name":"Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University) Ministry of Education  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xihan","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics \/ Prenatal Diagnostic Center West China Second University Hospital Sichuan University  Chengdu China"},{"name":"Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University) Ministry of Education  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li","family":"Xue","sequence":"additional","affiliation":[{"name":"Department of Medical Function Meishan Women and Children's Hospital Alliance\/Hospital of West China Second University Hospital Sichuan University  Meishan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0975-375X","authenticated-orcid":false,"given":"Jing","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics \/ Prenatal Diagnostic Center West China Second University Hospital Sichuan University  Chengdu China"},{"name":"Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University) Ministry of Education  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,11,22]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010019\u20100686\u20108"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415\u2010019\u201009319\u20108"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2022.07.013"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6707","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,27]],"date-time":"2025-05-27T14:42:44Z","timestamp":1748356964000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.6707"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,11,22]]},"references-count":4,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,1]]}},"alternative-id":["10.1002\/pd.6707"],"URL":"https:\/\/doi.org\/10.1002\/pd.6707","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,11,22]]},"assertion":[{"value":"2024-08-30","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication 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