{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,22]],"date-time":"2025-07-22T10:42:32Z","timestamp":1753180952322,"version":"3.40.5"},"reference-count":20,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2019,7,23]],"date-time":"2019-07-23T00:00:00Z","timestamp":1563840000000},"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":[[2019,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Rhabdomyomas are the most common type of prenatal cardiac tumors. When isolated, 50% to 70% are related to the tuberous sclerosis complex (TSC). The aim of this study was to reinforce the importance of additional clinical data in patients with prenatal heart tumors.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>From 2010 to 2017, 10 prenatally detected cardiac tumors were referred to the Genetics Department, and a complete family history was taken. Postnatal echocardiographic and full clinical evaluation were completed. Next generation sequencing (NGS) of the <jats:italic>TSC1<\/jats:italic> and <jats:italic>TSC2<\/jats:italic> genes was performed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The 10 cases were postnatally confirmed as rhabdomyomas. Four de novo and four family cases were detected, and only one patient was previously aware of the TSC diagnosis. Molecular analysis by NGS was performed in four patients with three <jats:italic>TSC2<\/jats:italic> mutations, two of which were previously reported and one not.<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>Prenatal cardiac tumors are associated with TSC in 60% of cases. Prenatal diagnosis of cardiac tumors permits a further analysis of family members using the fetus as a clue for familial disease diagnosis.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.5521","type":"journal-article","created":{"date-parts":[[2019,7,10]],"date-time":"2019-07-10T21:39:11Z","timestamp":1562794751000},"page":"998-1004","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Clinical and genetic description of patients with prenatally identified cardiac tumors"],"prefix":"10.1002","volume":"39","author":[{"given":"Luisa F.","family":"Mariscal\u2010Mendiz\u00e1bal","sequence":"first","affiliation":[{"name":"Human Genetics and Genomics Department Instituto Nacional de Perinatolog\u00eda  Mexico City Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosalba","family":"Sevilla\u2010Montoya","sequence":"additional","affiliation":[{"name":"Human Genetics and Genomics Department Instituto Nacional 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