Trisomy 13 (Patau syndrome)

A Detailed Fetal Scan Providing Clarity in a Complex Case

A Fetal Well-Being Ultrasound was performed for a patient referred at 19–20 weeks of gestation for evaluation of a suspected fetal anomaly that was not clearly defined on a previous examination elsewhere.

A comprehensive fetal assessment revealed multiple structural abnormalities, including:

• Holoprosencephaly
• Proboscis
• Omphalocele
• Microphthalmia with hypotelorism
• Post-axial polydactyly
• Single umbilical artery
• Bilateral intracardiac echogenic foci

The constellation of these findings was highly suggestive of Trisomy 13 (Patau syndrome). The findings were communicated for appropriate counseling, further evaluation, and multidisciplinary management.

This case highlights the importance of a detailed and systematic fetal ultrasound examination. Recognizing a combination of seemingly unrelated anomalies can help establish a syndromic diagnosis, allowing timely counseling and informed decision-making for the family.

Diagnosed by: Dr. Ayush Goel

SHIVI Imaging Centre

Digital X-Ray • Ultrasound • Colour Doppler • Advanced DEXA Scan • OPG • Mammography Centre

📍 #660, Sector 7, Near ITI College for Boys, Opposite Doctor’s Colony, Ambala City, Haryana, India