Ac. Mclennan et al., PRENATAL-DIAGNOSIS OF BLACKFAN-DIAMOND SYNDROME - CASE-REPORT AND REVIEW OF THE LITERATURE, Prenatal diagnosis, 16(4), 1996, pp. 349-353
A case of prenatally diagnosed autosomal dominant congenital hypoplast
ic anaemia (Blackfan-Diamond syndrome or Aase congenital anaemia) caus
ing hydrops fetailis is presented. Recommendations for the prenatal ma
nagement of Blackfan-Diamond syndrome (BDS) include prepregnancy couns
elling for parents with BDS, detailed and serial fetal ultrasonography
and echo cardiography, cordocentesis if there are signs of anaemia, c
onsideration of in utero transfusions and planned early delivery if th
e fetus is affected.