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Herein, we report a case of fetal CHARGE syndrome (CS) with a <jats:italic>CHD7<\/jats:italic> variant inherited from maternal <jats:italic>CHD7<\/jats:italic> gonosomal mosaicism. The variant was detected through trio\u2010based whole\u2010exome sequencing and Sanger sequencing. High\u2010depth whole\u2010exome sequencing was performed for the identification of parental mosaicism. A novel heterozygous <jats:italic>CHD7<\/jats:italic> nonsense mutation (c.5794G&gt;T\/ p.E1932*) was detected in the tissue from the aborted fetus. The parents were wild\u2010type, indicating that the mutation was a <jats:italic>de novo<\/jats:italic> variant. The mutation was suspected to be the cause of the fetal CS. However, high\u2010depth whole\u2010exome sequencing revealed maternal gonosomal mosaicism at a variant allele frequency of 3.2%\u201323.3%. The variant was identified in various tissues (peripheral blood, hair follicles, buccal epithelia, and pharyngeal epithelia) from the asymptomatic mother. We confirmed maternal <jats:italic>CHD7<\/jats:italic> gonosomal mosaicism as a genetic cause of fetal CS. Our results emphasize the importance of clinical analysis in accurately determining the parents\u2019 status in detecting the <jats:italic>CHD7<\/jats:italic> <jats:italic>de novo<\/jats:italic> variant in fetal CS, as this analysis has vital implications for evaluating the recurrence risk for genetic counseling.<\/jats:p>","DOI":"10.1002\/ajmg.a.63491","type":"journal-article","created":{"date-parts":[[2023,12,7]],"date-time":"2023-12-07T22:50:55Z","timestamp":1701989455000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Maternal <scp><i>CHD7<\/i><\/scp> gonosomal mosaicism in a fetus with <scp>CHARGE<\/scp> syndrome"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8337-3272","authenticated-orcid":false,"given":"Ting","family":"Bai","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, West China Second University Hospital Sichuan University  Chengdu 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