Background and Aims Congenital heart defects (CHD) are the most common group of congenital malformation. With advanced testing-such as microarray and Next Generation Sequencing (NGS)-applied into routine clinical practice, more genetic anomalies may be detected in infants with CHDs. Aims and Objectives The study was aimed to investigate the association between the congenital heart defects and genetic anomalies. Methods A retrospective observational study included all the infants with a recoded new diagnosis of born CHD between 01/ 01/2017 and 31/12/2018, from a single tertiary neonatal intensive care unit. The data were recorded from the electronic patient records. For analytic purposes, CHDs cases were divided into 4 categories: critical, serious, significant or non-significant types. Results 229 infants were identified, of which 8 were excluded due either to a lack of follow up or death from non-cardiac causes, which made classification impossible. 93% of infants with critical CHD, and 85% of those with serious CHD, had relevant genetic testing, of which 31% and 41% had positive diagnoses, respectively. Significantly more infants with critical or serious CHD underwent relevant genetic testing than the infants with significant (50%) or nonsignificant (12%) CHD (p-value <0.01). Of the 24 infants with critical, serious or significant CHD diagnosed with a CHD related genetic anomaly: 8 were diagnosed with Trisomy 21; 3 with Noonan's syndrome; 1 with DiGeorge and the remainder with various microdeletions, microdeletions and single nucleotide variants. Conclusions In our cohort, around one-third of the infants with critical and serious heart conditions had underlying genetic defects. The infants with critical and serious heart condition needing surgery or intervention within one year after birth are often tested for the underlying genetic defect. The uptake of genetic testing was far less in infants with significant or minor CHDs.

tracheobronchitis. She was commenced on Rituximab and a six-month course of Cyclophosphamide.CT Neck and thorax showed focal obliteration of the airway at the level of hypopharynx and narrowing of left main bronchus. CT bronchogram showed the narrowing improved on a PEEP of 12 cm H2O. She was trialled on BiPAP overnight which helped her symptoms. She was referred to Great Ormond Street Hospital for a review; no further changes in management were suggested.The patient had recurrent relapses needing intensive care, therefore she was started on methotrexate and adalimumab, and had a balloon dilatation for her subglottic oedema and stenosis, which she tolerated well. She has been discharged home on overnight BiPAP with a plan for monthly balloon dilatations with ENT and to continue on methotrexate and adalimumab with gradual wean of steroids. Conclusion RP is rare with estimated incidence of 3.5 per million, only 10% cases are seen in paediatrics. Without aggressive and prompt treatment, life-threatening complications can develop rapidly, and outcomes are poor. Managing children with RP with significant airway involvement with NIV and repeated monthly balloon dilatations can help prevent life threatening exacerbations and the need for a tracheostomy. This case demonstrates the importance of multidisciplinary management of this complex condition.

Results In the last 10 years, 11 babies had a documented diagnosis of Ebstein's anomaly. Ten of these were antenatally diagnosed. Four were born prematurely (<37 weeks). Eight babies required resuscitation at birth and nine babies required intubation within the first 24 hours of life. Many of the babies had other significant co-morbidities including: hydrops fetalis, seizure activity, ventriculomegaly, trisomy 21 and persistent pulmonary hypertension (PPHN). Two babies also underwent therapeutic hypothermia. All of the babies born prematurely died within the neonatal period. Of the seven term babies with Ebstein's anomaly, three were discharged home, two were transferred to the Regional Paediatric Cardiology unit and two died on the neonatal unit. The two babies that were transferred the Regional Paediatric Cardiology unit subsequently died. The three surviving infants continue to be followed up. One of these patients is now seven years old and has not required any surgical intervention. Conclusion In our experience, Ebstein's anomaly was uniformly fatal in babies born prematurely. Furthermore, in term babies the survival was 43%. The overall survival of Ebstein's anomaly presenting in the neonatal period in our cohort was 27%. Although this is an outcome of a small cohort of neonates with a rare congenital heart disease, it is important that parents are counselled appropriately antenatally so that they are adequately prepared for the potentially poor outlook of babies born with Ebstein's anomaly in the neonatal period.