Very early prenatal diagnosis of Cockayne’s syndrome by coelocentesis

• DOI: 10.1080/01443615.2021.2014429
• Publication Date: 2022-01-10T14:51:15Z
• Authors: Antonino Giambona; Margherita Vincig...; Filippo Leto; Filippo Cassarà; Gaspare Cucinella; Valentina Cigna; Emanuela Orlandi; Maria Piccione; Francesco Picciotto; Aurelio Maggio
• Keywords: Amniocentesis; Cell-free fetal DNA

Cockayne's syndrome (CS) is a rare autosomal recessive multisystem disease characterised by early severe progression of symptoms. This study reports the feasibility earlier prenatal diagnosis CS coelocentesis at 8 weeks gestation respect to amniocentesis or villocentesis. Three couples risk for asked perform coelocentesis. Coelomic fluid was aspired from coelomic cavity in four singleton pregnancy and 40 foetal cells were recovered micromanipulator. Maternal DNA contamination evaluated quantitative fluorescent PCR (QF-PCR) target regions containing parental mutations ERCC6 gene amplified sequenced. In all these cases, molecular analysis possible. One foetus resulted affected confirmed on placental tissue after voluntary abortion. three foetuses carrier mutation results birth. suggests that reliable could be performed using present coelomatic pregnancy. Coelocentesis applied CSs as well other monogenic diseases, very stage pregnancy, if are already known.Impact StatementWhat know this subject? Previous studies utilising determination sex reported variable success ranging 58% 95%, because low total content presence maternal cell contamination. procedure has never been genetically transmitted diseases such syndrome.What do add? demonstrates sampling combined with well-standardised laboratory procedures can eight any defects known.What implications findings clinical practice and/or further research? The investigated demonstrate embryo-foetal selection CF allows diseases. technique attractive parents it provides genetic least 4 than what achieved traditional reducing anxiety option medical termination cases 8-10 weeks' gestation, which less traumatic safer second-trimester surgical termination. Further research concerns possibility obtain karyotype intrauterine corrective therapy.