Rare Diseases Symptoms Automatic Extraction

Isolated hyperechoic fetal colon before 36 weeks' gestation reveals cystinuria.

[cystinuria]

To determine whether there is an association between the fetal ultrasound finding of hyperechoic colon and the gestational age at which it presents and cystinuria.A prospective national survey was performed in France including all observations of isolated fetal hyperechoic colon detected at routine second- and third-trimester ultrasound over a 2-year period. Collected images were reviewed by experts. Colon was defined as being hyperechoic when its echogenicity was at least equal to that of the iliac bone. It was diagnosed when large tubular echogenic portions of the colon, without a focal mass and without posterior acoustic shadows, were observed at the periphery of the abdomen. Urinary amino acid analysis was performed after birth in the cases identified to test for cystinuria.Nineteen fetuses with ultrasound findings of hyperechoic colon were included, and the mothers of 16 of these agreed to participate in the study. In eight of nine cases of hyperechoic colon observed before 36 weeks' gestation cystinuria was confirmed at birth. In the seven remaining cases, observed after 36 weeks, none was found to have cystinuria and all had normal images at previous routine ultrasound scans at 22 and 33 weeks. When present, no difference in the sonographic appearance of hyperechoic colon was noted between the two groups. In the cystinuria-affected cases, the length of the hyperechoic mass appeared to increase with gestational age.In our experience, the presence of a hyperechoic colon at routine ultrasound scan before 36 weeks' gestation should prompt screening for cystinuria at birth, while later observation (> 36 weeks) of this finding does not appear to be related to any disease.

Diseases presenting "prospective national survey" symptom

  • cystinuria

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