Prenatal Diagnosis of Bachmann‐Bupp Syndrome Associated With an ODC1 Variant Presented With Macrocephaly and Ventricular Septal Defect Identified by Second Trimester Ultrasound

Key Points

• The study aims to explore the feasibility of diagnosing Bachmann-Bupp syndrome through prenatal imaging.
• Reviewed ultrasound images from the second trimester.
• Identified specific fetal anomalies including macrocephaly and ventricular septal defect.
• Conducted genetic analysis for ODC1 variant.
• Successfully diagnosed Bachmann-Bupp syndrome through ultrasound findings.
• Identified ODC1 variant as associated with observed fetal defects.
• Macrocephaly and ventricular septal defect were confirmed as key markers.