Abstract
We report a case of a 31 year old female. Ultrasoun d examination showed bilateral hyperechoic kidneys with multiple cysts and poor corticomedullary differentiation. Th e kidneys were increased in size and color Doppler showed normal bilateral renal arteries present. Amniocentesis was performed and the fetal chromosomal analysis highl ighted an inversion at the 6p12.2. Further genetic investigations were done. Both parents were karyotiped and showed an inversion at the 6p12.2, typically for the PKHD1 gene location. Afte r genetical councelling the parents decided to term inate the pregnancy. The autopsy confirmed the ultrasound findings.
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