Neonatal alloimmune neutropenia (NAN) is a disease that can cause severe and prolonged neutropenia in neonates. However, no report is available on the incidence of granulocyte antibody in neonates, the target antigen of this antibody, and the estimated incidence of NAN in Korea. Among a total of 856 neonates admitted to a neonatal intensive care unit (NICU) over a five year period, a total of 105 neonates with neutropenia were enrolled in this study. Positive reactions were observed in the sera of six neonates (5.7%, 6/105) by mixed passive hemagglutination assay (MPHA). To confirm the presence of NAN, MPHA and granulocyte antigen typing (HNA-1a, -1b, -2a, -4a, and -5a) were performed on neonatal and maternal blood. To differentiate granulocyte antibody and HLA antibody, MPHA was also performed using HLA antibody adsorbed serum. We confirmed three cases (2.9%, 3/105) of NAN among neonates with neutropenia in which granulocyte antibody specificities (two anti-HNA-1b and one anti-HNA-1a) and fetomaternal granulocyte antigen mismatches were identified. In this study, the estimated incidence of NAN was 0.35% (3/856) among neonates admitted to NICUs in Korea.
Pericentric inversion of chromosome 4 can give rise to 2 alternate recombinant (rec) chromosomesby duplication or deletion of 4p. The deletion of distal 4p manifests as Wolf-Hirschhorn syndrome (WHS). Here, we report the molecular cytogenetic findings and clinical manifestations observed in an infant with 46,XX,rec(4)dup(4q)inv(4)(p16q31.3)pat. The infant was delivered by Cesarean section at the 33rd week of gestation because pleural effusion and polyhydramnios were detected on ultrasonography. At birth, the infant showed no malformation or dysfunction, except for a preauricular skin tag. Array comparative genomic hybridization analysis of neonatal peripheral blood samples showed a gain of 38 Mb on 4q31.3-qter and a loss of 3 Mb on 4p16.3, and these results were consistent with WHS. At the last follow-up at 8 months of age (corrected age, 6 months), the infant had not achieved complete head control. (Korean J Lab Med 2010;30:89-92)
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