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

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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.

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Examines prenatal features of common arterial trunk in a population with specific genetic variants, highlighting implications for early diagnosis.

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Kakoly Borthakur (2026) studied this question.

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