P43.04: The diagnostic value of fetal liver MRI in cases of congenital haemochromatosis

Abstract

We report two cases of hydropic fetuses diagnosed during routine third trimester ultrasound (US). In each case, fetal anaemia was suspected because of the combination of 2D-US findings of hydrops associated with an increased systolic velocity of the middle cerebral artery (PS-MCA) above 1.5 Multiple of the median (MoM). Anaemia was confirmed in both cases (3 g/dl and 2.2 g/dl respectively) with fetal blood sampling and corrected with intra uterine transfusion (IUT) (70 and 60 ml respectively). The PS-MCA decreased below 1.5 MoM immediately after IUT, but reached the initial values 1 day to 2 days after the procedure. Fetal MRI was performed in order to ruled out tumoral's origin of fetal blood consumption. In these two cases, fetal abdominal MRI showed that the fetal liver was of diffusively low signal intensities on all sequences, particularly on gradient echo sequences. The latter findings were considered highly suggestive of iron deposition secondary to congenital hemochromatosis. Both fetuses died in utero and post-mortem analyses demonstrated iron deposition in extra hepatic tissues concordant with the diagnosis of neonatal haemochromatosis. When a fetus is seen with hydrops, fetal liver MRI may be worthwhile to evaluate the iron deposition in order to exclude congenital haemochromatosis.