Prenatal Sonographic Features of CHARGE Syndrome
CHARGE syndrome is a rare autosomal dominant disorder, associated with coloboma (C), heart defects (H), choanal atresia (A), retardation of growth and/or central nervous system (R), genitourinary anomalies (G) and ear abnormalities (E). Prenatal diagnosis of the syndrome is very rare but may be susp...
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| Format: | Article |
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MDPI AG
2021-02-01
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| Series: | Diagnostics |
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| Online Access: | https://www.mdpi.com/2075-4418/11/3/415 |
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| author | Kuntharee Traisrisilp Wisit Chankhunaphas Rekwan Sittiwangkul Chureerat Phokaew Vorasuk Shotelersuk Theera Tongsong |
| author_facet | Kuntharee Traisrisilp Wisit Chankhunaphas Rekwan Sittiwangkul Chureerat Phokaew Vorasuk Shotelersuk Theera Tongsong |
| author_sort | Kuntharee Traisrisilp |
| collection | DOAJ |
| description | CHARGE syndrome is a rare autosomal dominant disorder, associated with coloboma (C), heart defects (H), choanal atresia (A), retardation of growth and/or central nervous system (R), genitourinary anomalies (G) and ear abnormalities (E). Prenatal diagnosis of the syndrome is very rare but may be suspected when a combination of such abnormalities is identified. We describe a prenatally suspected case of CHARGE syndrome due to unique findings of cardiac defects (DORV) in combination with minor clues, including a structurally malformed ear with persistent non-response to an acoustic stimulation (which has never been prenatally described elsewhere), renal malrotation and growth restriction. Postnatal diagnosis was made based on confirmation of the prenatal findings and additional specific findings of bilateral coloboma, choanal atresia and ear canal stenosis. Finally, molecular genetic testing by whole exome sequencing of the neonate and her parents revealed a novel de novo heterozygous frameshift c.3506_3509dup variant in the <i>CHD7</i> gene, confirming the clinical diagnosis of CHARGE syndrome. In conclusion, we describe unique prenatal features of CHARGE syndrome. Educationally, this is one of the rare examples of CHARGE syndrome, comprising all of the six specific anomalies as originally described; it is also supported by the identification of a specific genetic mutation. The identified genetic variant has never been previously reported, thereby expanding the mutational spectrum of <i>CHD7</i>. Finally, this case can inspire prenatal sonographers to increase awareness of subtle or minor abnormalities as genetic sonomarkers. |
| first_indexed | 2024-03-09T06:10:44Z |
| format | Article |
| id | doaj.art-a99d7b7e1ead4278bbb03d57423e855c |
| institution | Directory Open Access Journal |
| issn | 2075-4418 |
| language | English |
| last_indexed | 2024-03-09T06:10:44Z |
| publishDate | 2021-02-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Diagnostics |
| spelling | doaj.art-a99d7b7e1ead4278bbb03d57423e855c2023-12-03T11:59:16ZengMDPI AGDiagnostics2075-44182021-02-0111341510.3390/diagnostics11030415Prenatal Sonographic Features of CHARGE SyndromeKuntharee Traisrisilp0Wisit Chankhunaphas1Rekwan Sittiwangkul2Chureerat Phokaew3Vorasuk Shotelersuk4Theera Tongsong5Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, ThailandDepartment of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, ThailandDepartment of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, ThailandCenter of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10332, ThailandCenter of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10332, ThailandDepartment of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, ThailandCHARGE syndrome is a rare autosomal dominant disorder, associated with coloboma (C), heart defects (H), choanal atresia (A), retardation of growth and/or central nervous system (R), genitourinary anomalies (G) and ear abnormalities (E). Prenatal diagnosis of the syndrome is very rare but may be suspected when a combination of such abnormalities is identified. We describe a prenatally suspected case of CHARGE syndrome due to unique findings of cardiac defects (DORV) in combination with minor clues, including a structurally malformed ear with persistent non-response to an acoustic stimulation (which has never been prenatally described elsewhere), renal malrotation and growth restriction. Postnatal diagnosis was made based on confirmation of the prenatal findings and additional specific findings of bilateral coloboma, choanal atresia and ear canal stenosis. Finally, molecular genetic testing by whole exome sequencing of the neonate and her parents revealed a novel de novo heterozygous frameshift c.3506_3509dup variant in the <i>CHD7</i> gene, confirming the clinical diagnosis of CHARGE syndrome. In conclusion, we describe unique prenatal features of CHARGE syndrome. Educationally, this is one of the rare examples of CHARGE syndrome, comprising all of the six specific anomalies as originally described; it is also supported by the identification of a specific genetic mutation. The identified genetic variant has never been previously reported, thereby expanding the mutational spectrum of <i>CHD7</i>. Finally, this case can inspire prenatal sonographers to increase awareness of subtle or minor abnormalities as genetic sonomarkers.https://www.mdpi.com/2075-4418/11/3/415CHARGE syndromefetal imagingprenatal diagnosisultrasound |
| spellingShingle | Kuntharee Traisrisilp Wisit Chankhunaphas Rekwan Sittiwangkul Chureerat Phokaew Vorasuk Shotelersuk Theera Tongsong Prenatal Sonographic Features of CHARGE Syndrome Diagnostics CHARGE syndrome fetal imaging prenatal diagnosis ultrasound |
| title | Prenatal Sonographic Features of CHARGE Syndrome |
| title_full | Prenatal Sonographic Features of CHARGE Syndrome |
| title_fullStr | Prenatal Sonographic Features of CHARGE Syndrome |
| title_full_unstemmed | Prenatal Sonographic Features of CHARGE Syndrome |
| title_short | Prenatal Sonographic Features of CHARGE Syndrome |
| title_sort | prenatal sonographic features of charge syndrome |
| topic | CHARGE syndrome fetal imaging prenatal diagnosis ultrasound |
| url | https://www.mdpi.com/2075-4418/11/3/415 |
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