Prenatal Diagnosis of Blackfan–diamond Syndrome: Case Report and Review of the Literature

Fetal Anemia of Unknown Cause – A Diagnostic Challenge

“…Anemia frequently presents in the neonatal period (25 %) or in the first year of life (90%). In rare cases, Blackfan-Diamond anemia is the cause of non-immune hydrops fetalis [18 -22] and few cases of IUT have been reported [19,20]. In our case (case 6), growth restriction, hydrops and aplastic anemia with low reticulocyte count were diagnosed during the initial fetal blood examinations at 21 weeks of gestation, but the diagnosis of Diamond-Blackfan anemia was not made until infancy.…”

Pregnancy in bone marrow failure syndromes: Diamond‐Blackfan anaemia and Shwachman‐Diamond syndrome

“…Seven babies were delivered by C‐section, four of whom had DBA. The C‐sections for DBA babies were done at 34 weeks because of a cordocentesis Hb of 1.6 g/dl ( McLennan et al , 1996 ), 37 weeks for maternal hypertension ( Neilson & Khokhar, 1991), 38 weeks due to fetal hydrops and bradycardia ( Rogers et al , 1997 ), and 40 weeks because of maternal fever ( Escalante et al , 1997 ). The C‐section reported previously for a non‐DBA baby was at 30 weeks for chorioamnionitis in a pregnancy which used an oocyte donor because the DBA mother had premature ovarian failure ( Aird et al , 1996 ).…”

“…Since in some families the DBA gene appears to map to 9q13, linkage and mutation analyses may eventually be useful ( Gustavsson et al , 1997 , 1998; Draptchinskaia et al , 1999 ). In practice, ultrasound may detect cardiomegaly and effusions from anaemic hydrops ( McLennan et al , 1996 ; Rogers et al , 1997 ), and altered cardiac blood flow velocities may be documented ( Visser et al , 1988 ). Affected fetuses may be treated with intrauterine transfusions in order to maintain the pregnancy ( McLennan et al , 1996 ).…”

“…Including the cases discussed here, there have been 25 DBA women reported to have had one or more pregnancies, for a total of 29 pregnancies (Table I). 15 DBA women had 16 children with DBA, and were reported in the context of dominantly inherited DBA; there was also one spontaneous abortion at 8 weeks in this group (Falter & Robinson, 1972;Hamilton et al, 1974;McFarland et al, 1982;Gray, 1982;Altman & Gross, 1983;Viskochil et al, 1990;Hurst et al, 1991;Neilson & Khokhar, 1991;McLennan et al, 1996;Rogers et al, 1997;Ball et al, 1996;Escalante et al, 1997). 10 DBA women had 12 offspring who did not have DBA (Balaban et al, 1985;Rijhsinghani & Wiechert, 1994;Aird et al, 1996;Janov et al, 1996;Rogers et al, 1997;this report).…”

Erratum to First de novo mutation in RPS19 gene as the cause of hydrops fetalis in Diamond–Blackfan anemia

“…Only 16% of the DBA cases have been diagnosed at birth and the diagnosis of most of these cases is due to careful follow-up of the newborn of a DBA pregnant mother. Hydrops fetalis is even more rare in DBA with only eight reported cases [1][2][3][4][5][6]. Five had a family history of DBA while the three others were diagnosed after birth.…”