{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T17:09:32Z","timestamp":1770916172381,"version":"3.50.1"},"reference-count":6,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2023,12,26]],"date-time":"2023-12-26T00:00:00Z","timestamp":1703548800000},"content-version":"vor","delay-in-days":0,"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":[[2024,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Most periventricular nodular heterotopias (PNHs) are associated with a mutation in the filamin A (<jats:italic>FLNA<\/jats:italic>) gene in Xq28. This condition is associated with cardiovascular malformations, connective tissue abnormalities, epilepsy, and intellectual deficiency of varying severity.<\/jats:p><\/jats:sec><jats:sec><jats:title>Materials and Methods<\/jats:title><jats:p>We report a new <jats:italic>FLNA<\/jats:italic> gene mutation in a male patient associated with PNH and diffuse interstitial lung disease.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A 23\u2010year\u2010old woman was referred at 31 gestational weeks to evaluate a suspected mega cisterna magna and ventricular septal defect with atrioventricular valve alignment in a male fetus. The fetal magnetic resonance imaging showed PNH associated with corpus callosum dysgenesis and a mega cisterna magna. At 2\u00a0months of age, the infant was diagnosed with severe respiratory distress with hypoxemia. A chest CT scan demonstrated a diffuse interstitial lung pattern with emphysema, multiple atelectasis foci, and signs of pulmonary hypertension. Rapid worsening led to his death at 4\u00a0months. Targeted sequencing of the <jats:italic>FLNA<\/jats:italic> gene identified a de novo hemizygous variant in 75% mosaic in lymphocyte cells, resulting in incomplete <jats:italic>FLNA<\/jats:italic> function loss.<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion &amp; Conclusion<\/jats:title><jats:p>On the diagnosis of antenatal PNH, the possibility of such lung involvement should be considered in the prognostic evaluation during prenatal counseling.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.6505","type":"journal-article","created":{"date-parts":[[2023,12,27]],"date-time":"2023-12-27T01:08:25Z","timestamp":1703639305000},"page":"364-368","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Diffuse interstitial lung disease in a male fetus with periventricular nodular heterotopia and filamin A mosaic variant"],"prefix":"10.1002","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2571-8564","authenticated-orcid":false,"given":"Beatrice","family":"Desnous","sequence":"first","affiliation":[{"name":"Pediatric Neurology Department Timone Enfant APHM  Marseille France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guillaume","family":"Carles","sequence":"additional","affiliation":[{"name":"Pediatric Cardiology Department Timone Enfant APHM  Marseille France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Florence","family":"Riccardi","sequence":"additional","affiliation":[{"name":"Genetic Department Sainte Musse Hospital  Toulon France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nathalie","family":"Stremler","sequence":"additional","affiliation":[{"name":"Pediatric Pneumology Department Timone Enfant APHM  Marseille France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melissa","family":"Baravalle","sequence":"additional","affiliation":[{"name":"Pediatric Pneumology Department Timone Enfant APHM  Marseille France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fedouah","family":"El\u2010Louali","sequence":"additional","affiliation":[{"name":"Pediatric Cardiology Department Timone Enfant APHM  Marseille France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Benoit","family":"Testud","sequence":"additional","affiliation":[{"name":"Neuroradiology Department Timone Enfant APHM  Marseille France"},{"name":"Aix\u2010Marseille University CNRS CRMBM UMR 7339  Marseille France"},{"name":"APHM La Timone CEMEREM  Marseille France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mathieu","family":"Milh","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Department Timone Enfant APHM  Marseille France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,12,26]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bj.2021.05.003"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/anc.0000000000000878"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2018.10.015"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431\u2010018\u20103301\u20100"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2017.03.045"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31197"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6505","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,15]],"date-time":"2024-03-15T02:05:35Z","timestamp":1710468335000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.6505"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,12,26]]},"references-count":6,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2024,3]]}},"alternative-id":["10.1002\/pd.6505"],"URL":"https:\/\/doi.org\/10.1002\/pd.6505","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,12,26]]},"assertion":[{"value":"2023-10-02","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-12-03","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-12-26","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}