Phenotyping trisomies 13 and 18 and CHARGE syndrome in fetal MRI-a proposed phenome-based, morphological disease severity score, and network medicine analysis.

Abstract excerpt

OBJECTIVES: CHARGE syndrome (CS) and trisomy 13 (T13) and 18 (T18) are heterogeneous diseases with overlapping morphological features. Historically, T13 and T18 were deemed incompatible with life. Recently, numerous studies have reported prolonged survival for some affected patients. Consequently, the question of individual counseling has arisen. This study aimed to analyze the fetal MRI-based phenome of CS, T13,...

Topics

Join the communities discussing this publication.

• CHARGE Syndrome
• CS gene
• Magnetic Resonance Imaging
• Phenotype
• Pregnancy