Prenatal Phenotype of a Heterozygous de Novo Missense COL4A1 Variant in a Fetus With Pleural Effusion, Ascites, Increased Placental Thickness, Decreased Amniotic Fluid, and Cerebral Structural Malformations | Synapse
May 20, 2026
Prenatal Phenotype of a Heterozygous de Novo Missense COL4A1 Variant in a Fetus With Pleural Effusion, Ascites, Increased Placental Thickness, Decreased Amniotic Fluid, and Cerebral Structural Malformations
Puntos clave
To investigate the prenatal phenotype associated with a heterozygous de novo missense COL4A1 variant.
Identified a fetus with pleural effusion, ascites, increased placental thickness, decreased amniotic fluid, and cerebral malformations.
Performed genetic analysis to identify the COL4A1 variant.
The fetus exhibited significant structural malformations alongside abnormal fluid accumulation.
Genetic testing confirmed the presence of a heterozygous de novo missense COL4A1 variant, correlating with the observed phenotypes.
Resumen
Summary What’s already known about this topic? What does this study add?