Abstract
A 34-year-old woman underwent routine antenatal ultrasound scanning at 17 weeks gestation which identified multiple fetal abnormalities including severe oligohydramnios, growth restriction, occipital encephalocele, short and bowed long bones, bilateral enlarged multicystic kidneys and an absent bladder. As the findings were highly suspicious for a lethal fetal ciliopathy, the patient received counselling and elected for a medical termination of pregnancy at 19 weeks. Autopsy confirmed the imaging findings, additionally demonstrating low set ears, micrognathia, a broad nasal bridge, polysyndactyly and bilateral hypoplastic lungs.
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