Prenatal diagnosis of Blackfan-Diamond syndrome: case report and review of the literature

Prenat Diagn. 1996 Apr;16(4):349-53. doi: 10.1002/(SICI)1097-0223(199604)16:4<349::AID-PD854>3.0.CO;2-#.

Abstract

A case of prenatally diagnosed autosomal dominant congenital hypoplastic anaemia (Blackfan-Diamond syndrome or Aase congenital anaemia) causing hydrops fetalis is presented. Recommendations for the prenatal management of Blackfan-Diamond syndrome (BDS) include prepregnancy counselling for parents with BDS, detailed and serial fetal ultrasonography and echocardiography, cordocentesis if there are signs of anaemia, consideration of in utero transfusions and planned early delivery if the fetus is affected.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Cardiomegaly / diagnostic imaging
  • Cordocentesis
  • Fanconi Anemia / complications
  • Fanconi Anemia / diagnosis*
  • Fanconi Anemia / drug therapy
  • Fanconi Anemia / genetics
  • Female
  • Genes, Dominant
  • Humans
  • Hydrops Fetalis / diagnosis*
  • Hydrops Fetalis / etiology
  • Infant, Newborn
  • Pericardial Effusion / diagnostic imaging
  • Prednisolone / therapeutic use
  • Pregnancy
  • Pregnancy Complications / drug therapy
  • Pregnancy Outcome
  • Pregnancy, High-Risk
  • Prenatal Diagnosis / methods*
  • Syndrome
  • Ultrasonography, Prenatal

Substances

  • Prednisolone