Very early prenatal diagnosis of Cockayne's syndrome by coelocentesis

• Published in: Journal of obstetrics and gynaecology p. 1
• Main Authors: Giambona, Antonino, Vinciguerra, Margherita, Leto, Filippo, Cassarà, Filippo, Cucinella, Gaspare, Cigna, Valentina, Orlandi, Emanuela, Piccione, Maria, Picciotto, Francesco, Maggio, Aurelio
• Format: Journal Article
• Language: English
• Published: England 04.07.2022
• Subjects: CSB; Celocentesis; coelomic fluid; foetal cells; ERCC6; prenatal diagnosis; Cockayne’s syndrome

Cockayne's syndrome (CS) is a rare autosomal recessive multisystem disease characterised by early severe progression of symptoms. This study reports the feasibility of earlier prenatal diagnosis of CS by coelocentesis at 8 weeks of gestation respect to amniocentesis or villocentesis. Three coup...