Hyper-echogenic colon at the third trimester of pregnancy in this consanguineous couple may indicate cystinuria, all the more because there is a familial history of lithiasis and renal failure.
2.
Amniocentesis was performed at 36 weeks of gestation. Liver function tests and karyotype were normal. An amino acid assay was performed on the amniotic fluid. The results were compatible with cystinuria.