PRENATAL-DIAGNOSIS OF BLACKFAN-DIAMOND SYNDROME - CASE-REPORT AND REVIEW OF THE LITERATURE

Authors
MCLENNAN AC CHITTY LS RISSIK J MAXWELL DJ
Citation
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
Citations number
15
Categorie Soggetti
Obsetric & Gynecology
Journal title
Prenatal diagnosis → ACNP
ISSN journal
01973851
Volume
16
Issue
4
Year of publication
1996
Pages
349 - 353
Database
ISI
SICI code
0197-3851(1996)16:4<349:POBS-C>2.0.ZU;2-D
Abstract
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.