{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T08:46:45Z","timestamp":1769071605691,"version":"3.49.0"},"reference-count":4,"publisher":"Wiley","issue":"13","license":[{"start":{"date-parts":[[2023,12,18]],"date-time":"2023-12-18T00:00:00Z","timestamp":1702857600000},"content-version":"vor","delay-in-days":17,"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":[[2023,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Fetal arthrogryposis is a well\u2010recognised ultrasonographic phenotype, caused by both genetic, maternal and extrinsic factors. When present with fetal growth restriction, pulmonary hypoplasia and multiple joint contractures, it is often referred to as fetal akinesia deformation sequence (FADS). Historically, elucidating genetic causes of arthryogryposis\/FADS has been challenging; there are now more than 150 genes known to cause arthrogryposis through myopathic, neuromuscular and metabolic pathways affecting fetal movement. FADS is associated with over 400 medical conditions making prenatal diagnosis challenging. Here we present a case of FADS diagnosed at 19 weeks gestation with progression to severe fetal hydrops and stillbirth at 26\u2010weeks gestation. Initial investigations including combined first trimester screening, TORCH (infection) screen and chromosomal microarray were normal. Trio whole exome sequencing (WES) detected compound heterozygous likely pathogenic <jats:italic>CACNA1S<\/jats:italic> gene variants associated with autosomal dominant (AD) and autosomal recessive (AR) congenital myopathy and FADS. To our knowledge, this is the first prenatal diagnosis of this condition.<\/jats:p>","DOI":"10.1002\/pd.6471","type":"journal-article","created":{"date-parts":[[2023,12,19]],"date-time":"2023-12-19T08:15:53Z","timestamp":1702973753000},"page":"1678-1681","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Biallellic variants in CACNA1S cause fetal akinesia sequence, progressive hydrops and stillbirth"],"prefix":"10.1002","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3764-9519","authenticated-orcid":false,"given":"Emma","family":"Seed","sequence":"first","affiliation":[{"name":"Maternal Fetal Medicine The Gold Coast University Hospital  Southport Queensland Australia"},{"name":"The Sunshine Coast University Hospital  Birtinya Queensland Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fallon","family":"Noon","sequence":"additional","affiliation":[{"name":"Clinical Genetics Advanced Trainee Genetic Health Queensland  Herston Queensland Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Di","family":"Milnes","sequence":"additional","affiliation":[{"name":"Clinical Geneticist Genetic Health Queensland  Herston Queensland Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1502-5000","authenticated-orcid":false,"given":"Tony","family":"Roscioli","sequence":"additional","affiliation":[{"name":"Prince of Wales Hospital and Community Health Services NSW Health Pathology Randwick Genomics  Randwick New South Wales Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karl","family":"Kristensen","sequence":"additional","affiliation":[{"name":"Maternal Fetal Medicine The Gold Coast University Hospital  Southport Queensland Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Ellwood","sequence":"additional","affiliation":[{"name":"Maternal Fetal Medicine The Gold Coast University Hospital  Southport Queensland Australia"},{"name":"Griffith University School of Medicine  Gold Coast Queensland Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fabricio","family":"DaSilva Costa","sequence":"additional","affiliation":[{"name":"Maternal Fetal Medicine The Gold Coast University Hospital  Southport Queensland Australia"},{"name":"Griffith University School of Medicine  Gold Coast Queensland Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,12,18]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.04.015"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22918"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.3233\/JND-190383"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6471","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,22]],"date-time":"2024-02-22T17:01:40Z","timestamp":1708621300000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.6471"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,12]]},"references-count":4,"journal-issue":{"issue":"13","published-print":{"date-parts":[[2023,12]]}},"alternative-id":["10.1002\/pd.6471"],"URL":"https:\/\/doi.org\/10.1002\/pd.6471","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,12]]},"assertion":[{"value":"2023-07-02","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-11-03","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-12-18","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}