{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T09:48:26Z","timestamp":1767260906146,"version":"3.40.5"},"reference-count":52,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2022,5,27]],"date-time":"2022-05-27T00:00:00Z","timestamp":1653609600000},"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":[[2022,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To reach a molecular diagnosis for a family with two consecutive fetuses presenting with multiple congenital anomalies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The two fetuses underwent prenatal ultrasound, autopsy, radiologic, and genetic investigation. Genetic analysis included karyotype and array\u2010CGH for both fetuses and trio\u2010based whole exome sequencing (WES) only for the second fetus.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>WES results, initially focusing on recessive or dominant <jats:italic>de novo<\/jats:italic> variants, were negative.However, as a result of new relevant information regarding family history, the variant c.648_651dup in the <jats:italic>PTCH1<\/jats:italic> gene was identified as causative of the fetal phenotype.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This case further highlights how WES data analysis and interpretation strongly rely on family history and robust genotype\u2013phenotype correlation. This is even more relevant in the prenatal setting, where access to fetal phenotype is limited and prenatal recognition of many morbid genes is not fully explored. We also provide a detailed description of the prenatal manifestations of Basal Cell Nevus Syndrome.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.6171","type":"journal-article","created":{"date-parts":[[2022,5,18]],"date-time":"2022-05-18T18:24:42Z","timestamp":1652898282000},"page":"927-933","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Family history is key to the interpretation of exome sequencing in the prenatal context: unexpected diagnosis of Basal Cell Nevus Syndrome"],"prefix":"10.1002","volume":"42","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5763-5347","authenticated-orcid":false,"given":"Berardo","family":"Rinaldi","sequence":"first","affiliation":[{"name":"Medical Genetics Unit Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico  Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudia","family":"Cesaretti","sequence":"additional","affiliation":[{"name":"Medical 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