McLennan A C, Chitty L S, Rissik J, Maxwell D J
Fetal Medicine Unit, Guy's Hospital, London, U.K.
Prenat Diagn. 1996 Apr;16(4):349-53. doi: 10.1002/(SICI)1097-0223(199604)16:4<349::AID-PD854>3.0.CO;2-#.
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.
本文报告了一例产前诊断的常染色体显性遗传性先天性再生障碍性贫血（Blackfan-Diamond综合征或Aase先天性贫血）导致胎儿水肿的病例。Blackfan-Diamond综合征（BDS）的产前管理建议包括为患有BDS的父母提供孕前咨询、详细且连续的胎儿超声检查和超声心动图检查，若有贫血迹象则进行脐带穿刺术，考虑宫内输血，以及如果胎儿受影响则计划早期分娩。
