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)

Indication for admission, clinical diagnosis and management were collated. Results 3552 babies were admitted during the study period. Of these, 1651 were unexpected admissions and 208/1651 (12.6%) were as a result of positive pulse oximetry screening. 165/208 babies (79%) had a significant clinical condition which required further intervention including 17 with congenital heart defect (CHD) (nine critical), 55 with pneumonia, 30 with sepsis and 12 with pulmonary hypertension. No baby died or collapsed on the postnatal ward during the study period. 61/208 babies (29%) had echocardiography and CHD was detected in 28%. Conclusions Routine use of pulse oximetry screening identifies babies with CHD and other illnesses, which, if not identified early could potentially lead to postnatal collapse. It does not appear to overload clinical services, resulting in appropriate admission in the majority and a modest increase in the number of echocardiograms performed.

K E Y W O R D S:congenital heart disease; first trimester; systematic review; ultrasound scan ABSTRACTObjective To evaluate the accuracy of first-trimester ultrasound examination in detecting major congenital heart disease (CHD) using a systematic review of the literature. Methods General bibliographic and specialist computerized databases along with manual searching of reference lists of primary and review articles were used to search for relevant citations. Studies were included if a first-

Congenital chylothorax is the accumulation of lymphatic fluid within the pleural space. Cases unresponsive to conservative management usually require surgery. Octreotide has been used successfully to treat post-traumatic chylothoraces in the paediatric and adult population. Its exact mode of action is uncertain but it is believed to reduce lymphatic drainage by a direct action on splanchnic lymph flow. We report a case of congenital chylothorax where surgery was avoided with the compassionate trial of the somatostatin analogue, octreotide. Treatment was associated with prompt respiratory improvement prior to cessation of pleural drainage. Further studies are required to ascertain its true value in congenital chylothorax.