Prenatal Sonographic Features of Ring Chromosome 15: A Case Report and Literature Review

Ring chromosome 15, a rare genetic disease, is very rarely prenatally diagnosed. We present a unique case of fetal ring chromosome 15 with ultrasound findings at 32 weeks of gestation including congenital diaphragmatic hernia, hypoplasia of the aorta with persistent left SVC, growth restriction, clubfeet and scoliosis. We also performed an analytical literature review of prenatal sonographic findings of the disease. This review suggests that ring chromosome 15 has a relatively specific sonographic pattern that could facilitate early detection. The specific sonographic features of ring chromosome 15 include fetal growth restriction, congenital diaphragmatic hernia, abnormal limb postures, cardiac defects, low-set ears and other less frequent, non-specific anomalies that can be identified in more than 50% of cases.

Automated summary

This study presents a unique case of fetal ring chromosome 15 and provides a review of prenatal sonographic findings of the disease. The review suggests that ring chromosome 15 has a relatively specific sonographic pattern that could facilitate early detection.