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 C 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 ammotic fluid sampling, fetal blood allows the collection of additional data, which may help in understanding the pathological process behind an apparently serendipitous association. Copyright (C) 2002 John Wiley Sons, Ltd.

Fetal Liver Hyperechogenicity On Sonography May Be A Serendipitous Sign Of A Transient Myeloproliferating Disorder.

VIMERCATI, antonella;INGRAVALLO, GIUSEPPE;LOVERRO, Giuseppe;
2003

Abstract

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 C 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 ammotic fluid sampling, fetal blood allows the collection of additional data, which may help in understanding the pathological process behind an apparently serendipitous association. Copyright (C) 2002 John Wiley Sons, Ltd.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11586/122464
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