Presentation
Abnormal ultrasound findings.
Patient Data
Singleton viable intrauterine pregnancy in breech presentation with severe oligohydramnios.
Diffuse enlargement of bilateral kidneys (axial, coronal) with numerous small renal cysts throughout both kidneys. Bladder is not visualized.
Case Discussion
This is a case of autosomal recessive polycystic kidney disease with concern for Potter sequence.
A G1P000 mother initially presented for an anatomy ultrasound which showed an absent bladder, low amniotic fluid, and bilateral echogenic kidneys. No other fetal abnormalities were reported, growth was documented as normal, and cell-free fetal DNA testing returned low risk. Subsequent ultrasounds confirmed these findings, so amniocentesis and fetal MRI were performed.
Given the fetal MRI findings, the pregnancy was terminated due to lethal fetal anomalies. Genetic testing was performed to determine the risk of recurrence in future pregnancies.
Co-author:
Ciara Dobrowolski
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