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

Key Points

• 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.