{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T00:14:37Z","timestamp":1759968877822,"version":"build-2065373602"},"reference-count":8,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2025,4,19]],"date-time":"2025-04-19T00:00:00Z","timestamp":1745020800000},"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":[[2025,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Mitochondrial DNA depletion syndrome\u201013 associated with <jats:italic>FBXL4<\/jats:italic> (MTDPS13) is an autosomal recessive disorder characterized by encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay. This report aims to provide a comprehensive analysis of a new prenatal\u2010onset case of MTDPS13 and to review previously documented cases.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>We report a prenatal\u2010onset case of MTDPS13 and review the three previously published cases.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The fetus initially presented with abnormal ultrasound findings at 20\u00a0weeks of gestation, including a mega cisterna magna, hypoplasia of the cerebellar vermis, and large bilateral choroid plexus cysts. At 23\u00a0weeks of gestation, fetal magnetic resonance imaging (MRI) confirmed the ultrasound findings and revealed small periventricular cystic areas suggestive of cavitations in the ganglionic eminences. At 31\u00a0weeks, MRI identified vermian hypoplasia with an increased retrocerebellar space, elevated tentorial insertion, and unilateral ventriculomegaly. Later in pregnancy, exome sequencing identified the homozygous pathogenic variant NM_012160.4:c.141del in the <jats:italic>FBXL4<\/jats:italic> gene, thereby confirming the diagnosis of MTDPS13.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This case illustrates the prenatal onset of MTDPS13, with central nervous system abnormalities apparent from the second trimester. Only three similar cases have been reported, all in males, presenting at least one truncating variant in <jats:italic>FBXL4<\/jats:italic> gene. The literature and our case highlight that the prenatal clinical manifestations can include ventriculomegaly, periventricular cysts, mega cisterna magna, cerebellar vermis hypoplasia, and cardiac anomalies.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.6794","type":"journal-article","created":{"date-parts":[[2025,4,19]],"date-time":"2025-04-19T10:51:06Z","timestamp":1745059866000},"page":"829-834","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Prenatal <i>FBXL4<\/i>\u2010Associated Mitochondrial DNA Depletion Syndrome\u201013: A New Case and Review of the Literature"],"prefix":"10.1002","volume":"45","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-6260-5757","authenticated-orcid":false,"given":"Andrea","family":"Ros","sequence":"first","affiliation":[{"name":"Clinical Genetics Department Laboratori Cl\u00ednic de la Metropolitana Nord Germans Trias i Pujol Hospital  Badalona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0084-1710","authenticated-orcid":false,"given":"Ivan","family":"Hurtado","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology Department Germans Trias i Pujol Hospital  Badalona Spain"},{"name":"Germans Trias i Pujol Research Institute (IGTP)  Badalona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00c9lida","family":"V\u00e1zquez\u2010M\u00e9ndez","sequence":"additional","affiliation":[{"name":"Department of Paediatric Radiology Hospital Universitari Vall d'Hebron  Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6497-0194","authenticated-orcid":false,"given":"Laura","family":"Monlle\u00f3\u2010Neila","sequence":"additional","affiliation":[{"name":"Pediatrics Neurology Unit Pediatrics Department Germans Trias i Pujol Hospital  Badalona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5740-4415","authenticated-orcid":false,"given":"Montserrat","family":"Pauta","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department Laboratori Cl\u00ednic de la Metropolitana Nord Germans Trias i Pujol Hospital  Badalona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0107-6133","authenticated-orcid":false,"given":"M. Mar","family":"Rovira\u2010Remisa","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department Laboratori Cl\u00ednic de la Metropolitana Nord Germans Trias i Pujol Hospital  Badalona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-4794-9157","authenticated-orcid":false,"given":"Belen","family":"Garc\u00eda","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department Laboratori Cl\u00ednic de la Metropolitana Nord Germans Trias i Pujol Hospital  Badalona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-8041-1507","authenticated-orcid":false,"given":"Barbara","family":"Masotto","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department Laboratori Cl\u00ednic de la Metropolitana Nord Germans Trias i Pujol Hospital  Badalona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6631-0165","authenticated-orcid":false,"given":"Carmina","family":"Comas","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology Department Germans Trias i Pujol Hospital  Badalona Spain"},{"name":"Germans Trias i Pujol Research Institute (IGTP)  Badalona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7414-7481","authenticated-orcid":false,"given":"Ignacio","family":"Blanco","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department Laboratori Cl\u00ednic de la Metropolitana Nord Germans Trias i Pujol Hospital  Badalona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-3698-888X","authenticated-orcid":false,"given":"Aneta","family":"Zientalska","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology Department Germans Trias i Pujol Hospital  Badalona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,4,19]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2019.00039"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23341"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12894"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1159\/000515928"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6272"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ccr3.511"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.137"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj\u20102021\u2010066288"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6794","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,8]],"date-time":"2025-10-08T00:17:37Z","timestamp":1759882657000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.6794"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4,19]]},"references-count":8,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2025,6]]}},"alternative-id":["10.1002\/pd.6794"],"URL":"https:\/\/doi.org\/10.1002\/pd.6794","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"type":"print","value":"0197-3851"},{"type":"electronic","value":"1097-0223"}],"subject":[],"published":{"date-parts":[[2025,4,19]]},"assertion":[{"value":"2024-10-21","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-04-02","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-04-19","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}