[When should evoke prenatal paternal uniparental disomy 14?]

Area of Science:

• Genetics
• Developmental Biology
• Medical Diagnostics

Background:

• Paternal uniparental disomy 14 (PUPD14) is a rare genetic condition.
• It is characterized by specific prenatal and postnatal physical anomalies.

Observation:

• The study reports a rare case of prenatal PUPD14.
• Key prenatal ultrasonographic findings include recurrent polyhydramnios, a narrow thorax, and short, deformed long bones.
• A characteristic postnatal sign is the 'coat hanger' rib deformity.

Findings:

• The case presented with prenatal signs consistent with PUPD14.
• Three-dimensional ultrasound and helical CT were utilized to visualize the narrow, deformed thorax.
• These imaging techniques can aid in the prenatal diagnosis of PUPD14.

Implications:

• Early and accurate prenatal diagnosis of PUPD14 is crucial for management.
• Advanced imaging techniques like 3D ultrasound and CT are valuable tools for prenatal detection.
• Understanding the spectrum of anomalies associated with PUPD14 improves diagnostic capabilities.