Fetal liver hyperechogenicity on sonography may be a serendipitous sign of a transient myeloproliferating disorder

OBJECTIVE: To demonstrate that thorough antenatal and postnatal investigations are helpful in any genetic syndrome. CASE REPORT: A woman without a specific risk had a finding of hyperechogenic foci at ultrasound. Karyotype on fetal blood was 47, XY+21 and extensive biochemical investigation revealed abnormal liver function. Given the suspicion of a coincidental hepatic compromise, targeted postmortem examination was performed, which showed hepatic fibrosis, megakaryocytes proliferation and invasion of sinusoid capillaries, all suggestive of a transient myeloproliferative disorder. CONCLUSION: When compared with chorionic villous and amniotic fluid sampling, fetal blood allows the collection of additional data, which may help in understanding the pathological process behind an apparently serendipitous association.