Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations

作者：Legendre Marine; Gonzales Marie; Goudefroye Geraldine; Bilan Frederic; Parisot Pauline; Perez Marie Jose; Bonniere Maryse; Bessieres Bettina; Martinovic Jelena; Delezoide Anne Lise; Jossic Frederique; Fallet Bianco Catherine; Bucourt Martine; Tantau Julia; Loget Philippe; Loeuillet Laurence; Laurent Nicole; Leroy Brigitte; Salhi Houria; Bigi Nicole; Rouleau Caroline; Guimiot Fabien; Quelin Chloe; Bazin Anne; Alby Caroline; Ichkou Amale; Gesny Roselyne; Kitzis Alain

来源：Journal of Medical Genetics, 2012, 49(11): 698-707.

DOI：10.1136/jmedgenet-2012-100926

Background CHARGE syndrome is a rare, usually sporadic disorder of multiple congenital anomalies ascribed to a CHD7 gene mutation in 60% of cases. Although the syndrome is well characterised in children, only one series of 10 fetuses with CHARGE syndrome has been reported to date. Therefore, we performed a detailed clinicopathological survey in our series of fetuses with CHD7 mutations, now extended to 40 cases. CHARGE syndrome is increasingly diagnosed antenatally, but remains challenging in many instances. %26lt;br%26gt;Method Here we report a retrospective study of 40 cases of CHARGE syndrome with a CHD7 mutation, including 10 previously reported fetuses, in which fetal or neonatal clinical, radiological and histopathological examinations were performed. %26lt;br%26gt;Results Conversely to postnatal studies, the proportion of males is high in our series (male to female ratio 2.6:1) suggesting a greater severity in males. Features almost constant in fetuses were external ear anomalies, arhinencephaly and semicircular canal agenesis, while intrauterine growth retardation was never observed. Finally, except for one, all other mutations identified in our antenatal series were truncating, suggesting a possible phenotype-genotype correlation. %26lt;br%26gt;Conclusions Clinical analysis allowed us to refine the clinical description of CHARGE syndrome in fetuses, describe some novel features and set up diagnostic criteria in order to help the diagnosis of CHARGE syndrome after termination of pregnancies following the detection of severe malformations.

• 出版日期2012-11