![]() ![]() recently proposed the inclusion of results of CHD7 testing in the clinical criteria. After identification of mutations in the CHD7 gene resulting in several phenotypic abnormalities, Hale et al. Verloes proposed the criteria for typical CHARGE: three majors (3C triad) OR two majors plus two minors partial CHARGE: two majors plus one minor and atypical CHARGE: two majors but no minors OR one major plus two minors. Other minor criteria include rhombencephalic dysfunction (brainstem and cranial nerves III to XII, including sensorineural deafness) malformation of the ear, malformation of the mediastinum (heart, esophagus) and mental retardation. and further modified by Verloes who highlighted the importance of the 3C major criteria (coloboma, choanal atresia, and hypoplasia of the semicircular ear canals). Though there is no consensus, most people refer to the criteria proposed by Blake et al. Conventionally, diagnosis is usually made by clinical criteria. The term CHARGE was introduced by Pagon et al. This syndrome was first reported in 1979 by Hittner et al. CHARGE refers to a disorder associated with ocular coloboma (C), heart defects (H), choanal atresia (A), retardation of growth and/or central nervous system development (R), genito-urinary anomalies (G) and ear abnormalities (E). The majority of cases (65–70%) are caused by the loss of function pathogenic variants in the CHD7 gene. Finally, this case can inspire prenatal sonographers to increase awareness of subtle or minor abnormalities as genetic sonomarkers.ĬHARGE syndrome is a rare, autosomal dominant genetic disorder with an incidence of approximately 1 in 10,000 births. The identified genetic variant has never been previously reported, thereby expanding the mutational spectrum of CHD7. 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. In conclusion, we describe unique prenatal features of CHARGE syndrome. ![]() 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 CHD7 gene, confirming the clinical diagnosis of CHARGE syndrome. Postnatal diagnosis was made based on confirmation of the prenatal findings and additional specific findings of bilateral coloboma, choanal atresia and ear canal stenosis. 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. Prenatal diagnosis of the syndrome is very rare but may be suspected when a combination of such abnormalities is identified. 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). ![]()
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