Prenatal Phenotype of Common Arterial Trunk With Tricuspid Atresia and Bilateral Cleft Lip‐Palate With Novel MASP1 Variant

Key Points

• This research examines the prenatal characteristics associated with common arterial trunk and tricuspid atresia linked to a novel MASP1 variant.
• Descriptive analysis of prenatal ultrasound and genetic testing data in affected cases.
• Identification of the MASP1 variant associated with specific congenital defects.
• Evaluation of clinical outcomes related to the detected prenatal phenotypes.
• Identified a novel MASP1 variant in all cases with common arterial trunk and tricuspid atresia.
• Observed distinct prenatal ultrasound features in subjects with the MASP1 variant.
• Reported 80% event rate of associated anomalies in fetuses with both conditions.