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.


METHODS
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.


CONCLUSIONS
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.
Vimercati
Antonella
A
Institute of Obstetrics and Gynaecology-University of Bari, Italy. avimercati@gynecology2.uniba.it
Greco
Pantaleo
P
Gentile
Antonia
A
Ingravallo
Giuseppe
G
Loverro
Giuseppe
G
Selvaggi
Luigi
L
D000025:Abortion, Eugenic; D000328:Adult; D000649:Amniocentesis; D015193:Chorionic Villi Sampling; D005169:Factor VIII / Q000378:metabolism; D005260:Female; D005312:Fetal Blood / Q000166:cytology / Q000378:metabolism; D006801:Humans; D008099:Liver / Q000000981:diagnostic imaging* / Q000196:embryology; D008103:Liver Cirrhosis / Q000151:congenital / Q000473:pathology; D008111:Liver Function Tests; D008533:Megakaryocytes / Q000378:metabolism / Q000473:pathology; D009196:Myeloproliferative Disorders / Q000151:congenital / Q000000981:diagnostic imaging* / Q000473:pathology; D011247:Pregnancy; D016216:Ultrasonography, Prenatal
D005169:Factor VIII