{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T02:04:02Z","timestamp":1780452242698,"version":"3.54.1"},"reference-count":39,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2024,10,29]],"date-time":"2024-10-29T00:00:00Z","timestamp":1730160000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2025,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Five percent of fetuses presents increased fetal nuchal translucency. It is a well\u2010known marker for aneuploidy (T21, Turner syndrome) and a variety of monogenic syndromes such as Noonan syndrome and certain skeletal dysplasias, as well as associated with structural malformations such as congenital heart disease. Current diagnostic algorithms for increased nuchal translucency include a rapid test for aneuploidy (fluorescence in\u00a0situ hybridization, FISH, or quantitative PCR), a cytogenetic analysis (karyotype or chromosomal microarray, CMA) followed by or concurrent with targeted gene panel analysis for RASopathies\/Noonan syndrome. Some centers now propose whole exome sequencing as an adjunct, but its usefulness in isolated increased nuchal translucency remains debated. We describe the recurrence of apparently isolated increased nuchal translucency in 2 euploid fetuses. Whole genome sequencing identified two compound heterozygous variants in the <jats:italic>NUP107<\/jats:italic> gene in both fetuses. Biallelic variants in <jats:italic>NUP107<\/jats:italic> are responsible for severe steroid\u2010resistant nephrotic syndrome, either isolated or syndromic (Galloway\u2010Mowat syndrome); in addition to the renal phenotype, the latter also includes intellectual deficiency and dysmorphic features. Pregnancy termination made it impossible to assess whether the <jats:italic>NUP107<\/jats:italic> variants found would have resulted in isolated or syndromic steroid\u2010resistant nephrotic syndrome. However, identifying the responsible gene improved the accuracy of the genetic counseling. This family is an example of the added benefit of introducing WES\/WGS in standardized protocols for prenatal diagnosis of euploid fetuses in \u201cisolated\u201d increased nuchal translucency.<\/jats:p>","DOI":"10.1002\/ajmg.a.63920","type":"journal-article","created":{"date-parts":[[2024,10,30]],"date-time":"2024-10-30T07:00:11Z","timestamp":1730271611000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Recurrent Increased Nuchal Translucency Led to the Identification of Novel <i>NUP107<\/i> Variants"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0618-1549","authenticated-orcid":false,"given":"Isis","family":"Atallah","sequence":"first","affiliation":[{"name":"Division of Genetic Medicine Lausanne University Hospital and University of Lausanne  Lausanne Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2711-0480","authenticated-orcid":false,"given":"Katarina","family":"Cisarova","sequence":"additional","affiliation":[{"name":"Division of Genetic Medicine Lausanne University Hospital and University of Lausanne  Lausanne Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9cile","family":"Guenot","sequence":"additional","affiliation":[{"name":"Materno\u2010Fetal and Obstetrics Research Unit, Department of Obstetrics and Gynecology University Hospital  Lausanne Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Estelle","family":"Dubruc","sequence":"additional","affiliation":[{"name":"Service of Clinical Pathology Institute of Pathology, Lausanne University Hospital  Lausanne Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Superti\u2010Furga","sequence":"additional","affiliation":[{"name":"Division of Genetic Medicine Lausanne University Hospital and University of Lausanne  Lausanne Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Belinda","family":"Campos\u2010Xavier","sequence":"additional","affiliation":[{"name":"Division of Genetic Medicine Lausanne University Hospital and University of Lausanne  Lausanne Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheila","family":"Unger","sequence":"additional","affiliation":[{"name":"Division of Genetic Medicine Lausanne University Hospital and University of Lausanne  Lausanne Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,10,29]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36988"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI98688"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3933"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1183"},{"issue":"1","key":"e_1_2_11_6_1","first-page":"87","article-title":"Recurrent Galloway Mowat Syndrome Associated With Abnormal Prenatal Sonographic Findings","volume":"17","author":"Chen C. P.","year":"2006","journal-title":"Genetic Counseling"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0b013e3181c9c8f8"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1055\/s\u20102003\u201042910"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.10.011"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.806"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1080\/14767058.2023.2193285"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12882\u2010019\u20101317\u2010y"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfaa221"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4675"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2018.10.002"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23348"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bty304"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.14880"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.2216"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms14061"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2023.1227724"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1099"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010018\u20100961\u20109"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140\u20106736(18)31940\u20108"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.3390\/diagnostics13010048"},{"key":"e_1_2_11_26_1","doi-asserted-by":"publisher","DOI":"10.1111\/1471\u20100528.16869"},{"key":"e_1_2_11_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.4028"},{"key":"e_1_2_11_28_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature17664"},{"key":"e_1_2_11_29_1","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfw103"},{"key":"e_1_2_11_30_1","doi-asserted-by":"publisher","DOI":"10.3390\/jcm11030702"},{"key":"e_1_2_11_31_1","doi-asserted-by":"publisher","DOI":"10.7860\/JCDR\/2017\/23755.9384"},{"key":"e_1_2_11_32_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37533"},{"key":"e_1_2_11_33_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet\u20102016\u2010104237"},{"key":"e_1_2_11_34_1","doi-asserted-by":"publisher","DOI":"10.1080\/14767058.2016.1224836"},{"key":"e_1_2_11_35_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.20352"},{"key":"e_1_2_11_36_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.121"},{"key":"e_1_2_11_37_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkq603"},{"key":"e_1_2_11_38_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1203382"},{"key":"e_1_2_11_39_1","doi-asserted-by":"publisher","DOI":"10.1093\/gigascience\/giaa145"},{"key":"e_1_2_11_40_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13039\u2010023\u201000650\u20104"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63920","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,27]],"date-time":"2025-05-27T12:16:35Z","timestamp":1748348195000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63920"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,10,29]]},"references-count":39,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2025,3]]}},"alternative-id":["10.1002\/ajmg.a.63920"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63920","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,10,29]]},"assertion":[{"value":"2023-03-12","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-10-12","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-10-29","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e63920"}}