Sensitive GATA1 mutation screening reliably identifies neonates with Down syndrome at risk for myeloid leukemia
article
The aim of this study was to define a population-based frequency of TAM in DS newborns. The Dutch Pediatric Surveillance Unit (DPSU) registers newborns with DS and TAM screening was added to this registration from Jan 1, 2008, until Jan 1, 2013 (Erasmus MC MEC-2007-168, Netherlands Trial Register NL1587). Based on the live birth prevalence of DS in the Netherlands, an estimated 1211 DS children were born in the Netherlands during the screening period. Between 2008 and 2013, 803 neonates with DS were included in the DPSU registry. Therefore ~66% of the neonates with DS were registered. Of the 803 registered neonates, TAM screening blood samples were received for 368 neonates (46% of the registered cases). The low inclusion rate could give rise to a selection bias, as pediatricians are probably more likely to include neonates with symptoms or abnormal PB values compared to healthy DS neonates. Therefore, the incidence of TAM could be overestimated in this study.
TNO Identifier
946625
Source
Leukemia, 35(8), pp. 2403-2406.
Pages
2403-2406