title: Blackfan-Diamond anemia and dyserythropoietic anemia presenting with increased nuchal translucency at 12 weeks of gestation.
abstract: 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.
authors.affiliation: Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, Denmark Hill, London,UK.
authors.forename: A P
authors.initials: AP
authors.lastname: Souka
authors.forename: S
authors.initials: S
authors.lastname: Bower
authors.forename: L
authors.initials: L
authors.lastname: Geerts
authors.forename: I
authors.initials: I
authors.lastname: Huggon
authors.forename: K H
authors.initials: KH
authors.lastname: Nicolaides
mesh_terms: 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