{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T16:23:01Z","timestamp":1791562981405,"version":"4.3.4"},"reference-count":6,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2023,9,14]],"date-time":"2023-09-14T00:00:00Z","timestamp":1694649600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2023,9,14]],"date-time":"2023-09-14T00:00:00Z","timestamp":1694649600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2023,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Germline pathogenic variants in isocitrate dehydrogenase 1\n                    <jats:italic>(IDH1)<\/jats:italic>\n                    can lead to a rare neurodevelopmental disorder called metaphyseal chondromatosis with D\u20102\u2010hydroxyglutaric aciduria, including severe skeletal and cerebral anomalies. To the best of our knowledge, no prenatal case of an\n                    <jats:italic>IDH1<\/jats:italic>\n                    pathogenic variant has been reported in literature. Somatic sequence variants in\n                    <jats:italic>IDH1\/2<\/jats:italic>\n                    genes are described in distinct cancers, premalignant diseases and rare inherited metabolic disorders. Amniocentesis and further genetic testing including trio exome sequencing were performed due to suspicious findings on a second trimester routine prenatal ultrasound examination. The fetus was found to have growth restriction, cerebral abnormalities (ex vacuo hydrocephalus, cerebellar and vermian hypoplasia, corpus callosum dysgenesis), brachycephaly, narrow chest, persistent left superior vena cava, liver calcifications, hyperechogenic bowel, short tubular bones and joint contractures. A de novo heterozygous variant in the\n                    <jats:italic>IDH1<\/jats:italic>\n                    gene was detected via trio exome sequencing. The prenatal diagnosis of a de novo pathogenic variant in\n                    <jats:italic>IDH1<\/jats:italic>\n                    in a fetus with the described phenotype, obtained through trio exome sequencing, helped parents and\u00a0providers with an informed decision making about pregnancy management.\n                  <\/jats:p>","DOI":"10.1002\/pd.6433","type":"journal-article","created":{"date-parts":[[2023,9,14]],"date-time":"2023-09-14T13:20:19Z","timestamp":1694697619000},"page":"1459-1462","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Fetal de novo heterozygous variant in the isocitrate dehydrogenase 1 gene associated with growth restriction, skeletal, cerebral and vascular anomalies"],"prefix":"10.1002","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-5906-2029","authenticated-orcid":false,"given":"Clara","family":"Illi","sequence":"first","affiliation":[{"name":"Department of Obstetrics of Charit\u00e9 University Hospital  Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4817-3368","authenticated-orcid":false,"given":"Josefine","family":"Koenigbauer","sequence":"additional","affiliation":[{"name":"Department of Obstetrics of Charit\u00e9 University Hospital  Berlin Germany"},{"name":"Prenatal Diagnosis Bergmannstrasse  Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wolfgang","family":"Henrich","sequence":"additional","affiliation":[{"name":"Department of Obstetrics of Charit\u00e9 University Hospital  Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Fangmann","sequence":"additional","affiliation":[{"name":"Department of Obstetrics of Charit\u00e9 University Hospital  Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte","family":"Reinhardt","sequence":"additional","affiliation":[{"name":"Department of Obstetrics of Charit\u00e9 University Hospital  Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophia","family":"Ossmann","sequence":"additional","affiliation":[{"name":"Department of Obstetrics of Charit\u00e9 University Hospital  Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander","family":"Weichert","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Bergmannstrasse  Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,9,14]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.2147\/jbm.s70716"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34325"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545\u2010012\u20109462\u20105"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.994"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41408\u2010021\u201000497\u20101"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pntd.0005363"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6433","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/pd.6433","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6433","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T11:13:58Z","timestamp":1773314038000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.6433"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,9,14]]},"references-count":6,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2023,10]]}},"alternative-id":["10.1002\/pd.6433"],"URL":"https:\/\/doi.org\/10.1002\/pd.6433","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,9,14]]},"assertion":[{"value":"2023-03-24","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-08-13","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-09-14","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}