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)

Colorectal polyps are an important albeit uncommon cause of rectal bleeding in children. Colonoscopy promotes both rapid and accurate diagnosis and the opportunity for immediate therapeutic polypectomy. A 10 year audit of polyps diagnosed and treated endoscopically has been undertaken in the children's endoscopy unit. Twenty nine polyps were diagnosed from 730 colonoscopies; 24 were juvenile, two inflammatory, two PeutzJeghers, and one an adenomatous polyp.All but one of the juvenile polyps were solitary. All children had bleeding per rectum as one of the major presenting features. About two thirds ofthe patients were under the age of 5 years; the mean age was 5-6 years. Most of the juvenile polyps were on the left side of the colon; 41% were distal to the sigmoid colon. However polyps were found throughout the colon, indicating that total colonoscopy is wise and rewarding in any child with persistent and intermittent rectal bleeding.

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NCT00887991.

BackgroundAgainst a background of failure to prevent neonatal invasive early-onset group B Streptococcus infections (GBS) in our maternity unit using risk-based approach for intrapartum antibiotic prophylaxis, we introduced an antenatal GBS carriage screening programme to identify additional women to target for prophylaxis.ObjectivesTo describe the implementation and outcome of an antepartum screening programme for prevention of invasive early-onset GBS infection in a UK maternity unit.DesignObservational study of outcome of screening programme (intervention) with comparison to historical controls (preintervention).SettingHospital and community-based maternity services provided by Northwick Park and Central Middlesex Hospitals in North West London.ParticipantsWomen who gave birth between March 2014 and December 2015 at Northwick Park Hospital.MethodsWomen were screened for GBS at 35–37 weeks and carriers offered intrapartum antibiotic prophylaxis. Screening programme was first introduced in hospital (March 2014) and then in community (August 2014). Compliance was audited by review of randomly selected case records. Invasive early-onset GBS infections were defined through GBS being cultured from neonatal blood, cerebrospinal fluid or sterile fluids within 0–6 days of birth.Main outcomeIncidence of early-onset GBS infections.Results6309 (69%) of the 9098 eligible women were tested. Screening rate improved progressively from 42% in 2014 to 75% in 2015. Audit showed that 98% of women accepted the offer of screening. Recto-vaginal GBS carriage rate was 29.4% (1822/6193). All strains were susceptible to penicillin but 11.3% (206/1822) were resistant to clindamycin. Early onset GBS rate fell from 0.99/1000 live births (25/25276) in the prescreening period to 0.33/1000 in the screening period (Rate Ratio=0.33; p=0.08). In the subset of mothers actually screened, the rate was 0.16/1000 live births (1/6309), (Rate Ratio=0.16; p<0.05).ConclusionsOur findings confirm that an antenatal screening programme for prevention of early-onset GBS infection can be implemented in a UK maternity setting and is associated with a fall in infection rates.