Key Points• GATA1 mutations are common in neonates with Down syndrome but are often unsuspected and detectable only with sensitive methods.• Multilineage blood abnormalities in all Down syndrome neonates in the absence of GATA1 mutations suggests that trisomy 21 itself perturbs hemopoiesis.Transient abnormal myelopoiesis (TAM), a preleukemic disorder unique to neonates with Down syndrome (DS), may transform to childhood acute myeloid leukemia (ML-DS). Acquired GATA1 mutations are present in both TAM and ML-DS. Current definitions of TAM specify neither the percentage of blasts nor the role of GATA1 mutation analysis.To define TAM, we prospectively analyzed clinical findings, blood counts and smears, and GATA1 mutation status in 200 DS neonates. All DS neonates had multiple blood count and smear abnormalities. Surprisingly, 195 of 200 (97.5%) had circulating blasts. GATA1 mutations were detected by Sanger sequencing/denaturing high performance liquid chromatography (Ss/DHPLC) in 17 of 200 (8.5%), all with blasts >10%. Furthermore lowabundance GATA1 mutant clones were detected by targeted next-generation resequencing (NGS) in 18 of 88 (20.4%; sensitivity ∼0.3%) DS neonates without Ss/DHPLC-detectable GATA1 mutations. No clinical or hematologic features distinguished these 18 neonates. We suggest the term "silent TAM" for neonates with DS with GATA1 mutations detectable only by NGS. To identify all babies at risk of ML-DS, we suggest GATA1 mutation and blood count and smear analyses should be performed in DS neonates. Ss/DPHLC can be used for initial screening, but where GATA1 mutations are undetectable by Ss/DHPLC, NGS-based methods can identify neonates with small GATA1 mutant clones. (Blood. 2013;122(24):3908-3917)

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ObjectiveThe aim of the Integrated Family Delivered Care (IFDC) programme was to improve infant health outcomes and parent experience through education and competency-based training.DesignIn collaboration with veteran parents’ focus groups, we created an experienced co-designed care bundle including IFDC mobile application, which together with staff training programme comprised the IFDC programme. Infant outcomes were compared with retrospective controls in a prepost intervention analysis.Main outcome measuresThe primary outcome measure was the length of stay (LOS).ResultsBetween April 2017 and May 2018, 89 families were recruited; 37 infants completed their entire care episode in our units with a minimum LOS >14 days. From a gestational age (GA) and birth weight-matched retrospective cohort, 57 control infants were selected. Data were also analysed for subgroup under 30 weeks GA (n=20).Infants in the IFDC group were discharged earlier: median corrected GA (36+0 (IQR 35+0–38+0) vs 37+1 (IQR 36+3–38+4) weeks; p=0.003), with shorter median LOS (41 (32–63) vs 55 (41–73) days; p=0.022). This was also evident in the subgroup <30 weeks GA (61 (39–82) vs 76 (68–84) days; p=0.035). Special care days were significantly lower in the IFDC group (30 (21–41) vs 40 (31–46); p=0.006). The subgroup of infants (<30 weeks) reached full suck feeding earlier (median: 47 (37–76) vs 72 (66–82) days; p=0.006).ConclusionThis is the first reported study from a UK tertiary neonatal unit demonstrating significant benefits of family integrated care programme. The IFDC programme has significantly reduced LOS, resulted in the earlier achievement of full enteral and suck feeds.