Blackfan-Diamond anemia and dyserythropoietic anemia presenting with increased nuchal translucency at 12 weeks of gestation.
Blackfan-Diamond anemia is a congenital hypoplastic anemia with a birth prevalence of about 1 in 200,000, usually presenting in the first few months of life and commonly associated with cardiac, urogenital and digital anomalies. Congenital dyserythropoietic anemias are a group of rare congenital anemias characterized by ineffective erythropoiesis. We report on two cases of congenital fetal anemia, one with Blackfan-Diamond anemia and one with dyserythropoietic anemia, presenting with increased nuchal translucency at 12 weeks of gestation.
Souka
A P
AP
Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, Denmark Hill, London,UK.
Bower
S
S
Geerts
L
L
Huggon
I
I
Nicolaides
K H
KH
D000328:Adult; D029503:Anemia, Diamond-Blackfan / Q000000981:diagnostic imaging*; D000742:Anemia, Dyserythropoietic, Congenital / Q000000981:diagnostic imaging*; D005260:Female; D006801:Humans; D009333:Neck / Q000000981:diagnostic imaging / Q000196:embryology*; D011247:Pregnancy; D016216:Ultrasonography, Prenatal