Early prenatal diagnosis of causative homozygous variants in ASCC1 in a fetus with cystic hygroma and additional homozygous variants of unknown significance associated with a neurological phenotype not visible in early gestation: Dual diagnosis or not?

• Published in: Prenatal diagnosis Vol. 44; no. 3; pp. 352 - 356
• Main Authors: Favier, Maud, Delanne, Julian, Gorincour, Guillaume, Faivre, Laurence, Racine, Caroline, Philippe, Christophe, Duffourd, Yannis, Vitobello, Antonio, Rousseau, Thierry, Martz, Olivia, Tarris, Georges, Oualiken, Camélia, Thauvin‐Robinet, Christel, Mau‐Them, Frédéric Tran
• Format: Journal Article
• Language: English
• Published: England Wiley Subscription Services, Inc 01.03.2024
• Subjects: Akinesia; Arthrogryposis; Atrophy; Brain; Brain stem; Carrier Proteins - genetics; Cerebellum; Congenital defects; Diagnosis; Diagnosis, Dual (Psychiatry); Female; Fetus - diagnostic imaging; Fetuses; Fractures; Genetic abnormalities; Genotype & phenotype; Genotypes; Gestation; Humans; Hydrops fetalis; Hypoplasia; Lymphangioma, Cystic - diagnostic imaging; Lymphangioma, Cystic - genetics; Medical diagnosis; Neurodevelopmental disorders; Phenotype; Phenotypes; Pregnancy; Prenatal Diagnosis; Sequence analysis; Spinal muscular atrophy; Teeth

A consanguineous couple was referred at 10 weeks of gestation (WG) for prenatal genetic investigations due to isolated cystic hygroma. Prenatal trio exome sequencing identified causative homozygous truncating variants in ASCC1 previously implicated in spinal muscular atrophy with congenital bone fra...