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P42Hydrops fetalis and hepatosplenomegaly in the second half of pregnancy as a sign of myeloproliferative disorder in fetuses with trisomy 21
Author(s) -
Smrcek J.,
Germer U.,
Baschat A.,
Gembruch U.
Publication year - 2000
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1046/j.1469-0705.2000.00004-1-42.x
Subject(s) - hepatosplenomegaly , medicine , trisomy , hydrops fetalis , myeloproliferative disorders , fetus , pathology , pregnancy , biology , genetics , disease
Background Fetal hydrops and/or hepatosplenomegaly in the second half of pregnancy may be a sign of myeloproliferative disorder in fetuses with trisomy 21. Methods In order to search for fetuses with myeloproliferative disorder a retrospective study was performed in fetuses with trisomy 21 and hydrops diagnosed in our prenatal unit. Three of these fetuses presented hepatosplenomegaly and myeloproliferative disorder. In addition, one fetus with sonographic signs of trisomy 21, where karyotyping was unfortunately unsuccessful, presented with hepatosplenomegaly, hydrops and myeloproliferative disorder. Results The four fetuses reported presented with fetal hepatosplenomegaly and hydrops in the second and third trimester. Infectious serology was negative. The characteristics of blast cells in the peripheral blood smear revealed a myeloproliferative disorder. The diagnosis was confirmed by postmortem examination, since all four cases ended up in fetal demise. Conclusion Fetal hydrops and/or hepatosplenomegaly in the second half of pregnancy, although suggestive of infectious aetiology, may be a sign of myeloproliferative disorder in fetuses with trisomy 21 or mosaic trisomy 21. It seems to be possible, that a myeloproliferative disorder is the most common cause of hydrops in cases of trisomy 21, at least during late second and third trimester. Furthermore, the incidence of myeloproliferative disorder in utero may be more frequent than realized.