Adrienne Foran

Noninvasive continuous cardiac output and cerebral perfusion monitoring in term infants with neonatal encephalopathy: assessment of feasibility and reliability

BackgroundNoninvasive hemodynamic monitoring of infants with neonatal encephalopathy (NE) undergoing therapeutic hypothermia (TH) would be a potentially useful clinical tool. We aimed to assess the feasibility and reliability of noninvasive cardiac output monitoring (NICOM) and near-infrared spectroscopy (NIRS) in this cohort.MethodsNICOM and NIRS were commenced to measure cardiac output (CO), systemic vascular resistance (SVR), blood pressure (BP), and cerebral regional oxygen saturations (SctO2) during TH and rewarming. NICOM measures of CO were also compared with simultaneous echocardiography-derived CO (echo-CO).ResultsTwenty infants with a median gestation of 40 weeks were enrolled. There was a strong correlation between NICOM- and echo-CO (r2=0.79, P<0.001). NICOM-CO was systematically lower than echo-CO with a bias of 27% (limits of agreement 3–51%). NICOM illustrated lower CO during TH, which increased during rewarming. SctO2 increased over the first 30 h of TH and stayed high for the remainder of the study. There was a rise in SVR over the first 30 h of TH and a decrease during rewarming (all P<0.05).ConclusionsNoninvasive hemodynamic assessment of infants with NE is feasible and illustrates potentially important changes. Larger studies are needed to assess the clinical applicability of those methods in this cohort.

The effect of maternal subclinical hypothyroidism on IQ in 7- to 8-year-old children: A case-control review.

In Ireland, pregnant women are not routinely screened for subclinical hypothyroidism (SCH).

Left ventricular rotational mechanics in infants with hypoxic ischemic encephalopathy and preterm infants at 36 weeks postmenstrual age: A comparison with healthy term controls.

There is a paucity of data on left ventricle (LV) rotational physiology in neonates. We aimed to assess rotational mechanics in infants with hypoxic ischemic encephalopathy (HIE) and premature infants (<32 weeks) at 36 weeks postmenstrual age (PMA) (preterm group) and compare them with healthy term controls (term controls). We also compared the parameters in preterm infants with and without chronic lung disease (CLD).

Delayed Infant Subaponeurotic (Subgaleal) Fluid Collections: A Case Series of 11 Infants

BACKGROUND Although subgaleal hemorrhage can present very soon after delivery with catastrophic consequences, subaponeurotic or subgaleal fluid collections are rare and clinically distinct causes of infant scalp swelling that present weeks to months after birth. Their exact etiology remains uncertain; however, they are frequently associated with instrumental and traumatic delivery. AIM & METHODS To characterize 11 subaponeurotic fluid collections that presented to the Temple Street Childrens University Hospital Emergency Department (TSCUHED) from July 2013 to July 2015 by a retrospective chart review. CASE REPORT Eleven infants were identified with delayed subaponeurotic fluid collections. Of note, all infants were either successful vacuum delivery or failed vacuum delivery with subsequent forceps delivery or emergency caesarean section. All infants were otherwise well at presentation, and resolution of the scalp swelling occurred within weeks to months. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: This condition follows a benign course and conservative management is the treatment of choice.

Prenatal identification of an accessory lower limb

J. Unterscheider*, J. O’Byrne, A. Foran, I. Robinson, S. Ryan, D. Devaney, J. Gillick, F. Malone and F. Breathnach Royal College of Surgeons in Ireland, Rotunda Hospital, Dublin, Ireland Department of Neonatology, Rotunda Hospital, Dublin, Ireland Department of Radiology, Children’s University Hospital, Temple Street, Dublin, Ireland Department of Pathology, Rotunda Hospital, Dublin, Ireland Department of Surgery, Children’s University Hospital, Temple Street, Dublin, Ireland

Similar but different: identical pathology with differing outcome in ‘Not-so-identical’ twins

Transient abnormal myelopoiesis (TAM) is a transient neonatal leukaemia that occurs in infants with Down Syndrome (DS) including trisomy 21 (T21) mosaicism. There are reported cases of TAM occurring in constitutionally normal children in whom T21 is present in the leukaemia cells (Richards et al, 1998). Monozygotic (MZ) twins are frequently referred to as ‘identical’. Identical twins with concordant leukaemia, although rare, are well described (Greaves et al, 2003). Concordance for leukaemia in MZ twins is explained by a single origin of leukaemia in one twin in utero with spread by intraplacental anastomoses to the other twin. We present MZ twins concordant for TAM but discordant for T21. One twin died in utero. In the surviving twin, after resolution of leukaemia, there was no evidence of constitutional T21, even at mosaic level. The deceased twin was mosaic T21. A 41-year old primigravida conceived a monochorionic diamniotic twin pregnancy following in vitro fertilization. The development of maternal pre-eclampsia and foetal hydrops in one twin necessitated urgent caesarean section at 28 weeks’ gestation. The hydropic foetus died in utero shortly prior to delivery. Twin I was a live born female weighing 1 14 kg. Full blood count showed haemoglobin (Hb) of 114 g/l, white cell count 126 9 10/l comprising 80% blasts and platelet count of 124 9 10l. Biochemistry revealed a hyperuricaemia, hyperkalaemia and grossly elevated lactate dehydrogenase (LDH). These were felt to be secondary to hyperleucocytosis as no other cause was identified. Blood film and flow cytometry confirmed the diagnosis of TAM with undifferentiated blasts comprising 80% of white cells. Blasts were positive for the megakaryocytic marker CD61. Fluorescence in situ hybridization (FISH) confirmed the presence of an extra copy of chromosome 21 in all cells examined. A GATA1 mutation in exon 2 was identified, in keeping with a diagnosis of TAM. The leukaemia resolved over 10 weeks with supportive management including red cell and platelet transfusions and the use of rasburicase to manage hyperuricaemia. Initial karyotype, carried out on peripheral blood 7 d after birth, showed T21 karyotype. However, FISH analysis on a buccal smear showed T21 in just 4% of cells. The follow-up karyotype, after resolution of TAM, at 22 weeks of age confirmed a normal female 46,XX karyotype. At age 3 years there is no evidence of disease recurrence, and karyotype is normal 46,XX. Twin 2, also female, was stillborn, weighing 1 8 kg. Post mortem findings showed a markedly hydropic female. There was generalized oedema. There were pleural, pericardial and peritoneal effusions. The liver was markedly enlarged (4 5 times the normal size), as was the spleen. Sections taken through multiple organs including heart, lungs, liver, uterus, fallopian tubes and ovaries, kidneys, thyroid, pituitary, adrenals and thymus showed an infiltrate comprising large blasts. Some blasts had granular cytoplasm and resembled atypical megakaryoblasts with platelet budding. Others were undifferentiated. Blasts were positive for myeloperoxidase and CD61, in keeping with megakaryoblastic leukaemia. The karyotype of Twin 2, performed by fibroblast monolayer, showed 47, XX,+21(9)/46,XX(21). This was verified in two independent skin fibroblast cultures and was consistent with a female with T21 mosaicism. GATA1 analysis was not performed in Twin 2. Placental examination confirmed monochorionicity and the placental karyotype was normal 46,XX. Monozygosity of the twins was confirmed by microsatellite analysis. The occurrence of TAM in twins is rare but has been previously described (Shimada et al, 2004). However, in that case report, unlike ours, the affected twins were concordant for T21. It is likely that TAM arose in Twin 2, who was mosaic T21, and spread to Twin 1 via vascular anastomoses. Vascular anastomoses occur in 70% of monochorionic twins (van Dijk et al, 1996). It is uncertain why the same disease process led to such different outcomes in the twins; despite a white cell count of over 100 9 10/l, [previously identified as a risk factor for early death (Massey et al, 2006)], Twin 1 had no identifiable cardiac or hepatic compromise secondary to her TAM, and went on to complete remission with supportive therapy only. Potential explanations include a briefer duration of disease in Twin 1 with briefer exposure to TAM blast-derived cytokines, e.g., platelet-derived growth factor or transforming growth factor-beta, which are implicated in the development of fibrosis (Hattori et al, 2001). Prenatal TAM is associated with high mortality rates (Roy et al, 2013). Attempts at prenatal treatment have been reported with inconsistent results (Tamblyn et al, 2016). While it is often assumed that monozygotic twins are ‘identical’ this is not the case. Post-zygotic genetic and epigenetic changes occur. These may be clinically silent or in correspondence

PP.30 The Effect of Maternal Sublinical Hypothyroidism on the IQ of Children

In our practise, pregnant women are not routinely screened or treated for subclinical hypothyroidism (SCH) Our objective was to compare the IQ of children whose mothers had been diagnosed with SCH antenatally with closely matched controls. In a previous study we screened 1000 healthy nulliparous patients for SCH. Those with overt hypothyroidism were treated, whereas those with SCH were contacted postnatally for paediatric follow-up. SCH (defined as reduced free T4 with normal TSH, or normal free T4 with raised TSH) was found in 4.6% (n = 46) All children underwent a formal neurodevelopmental assessment at age 7 to 8 years by a psychologist blinded to the original maternal thyroid status. From the cases, 23 mothers agreed to assessment of their children as well as 47 controls. The children in the control group had higher mean scores than those in the case group across Verbal Comprehension Intelligence, Perceptual Reasoning Intelligence, Working Memory Intelligence, Processing Speed Intelligence and Full Scale IQ. Statistical testing confirmed a statistically significant difference in IQ between the groups. This had a 95% confidence interval (.144, 10.330) Our results highlight significant differences in IQ of children of mothers who had unrecognised SCH during pregnancy. Our study size and design prevents us from making statements on causation but our data suggests significant public health implications in terms of routine thyroid screening in pregnancy. The results of prospective intervention trials to address a causative association will be vital to address this issue.

1157 A Report of Two Cases of Glucocorticoid Associated Cardiac Dysfunction in Noonan Syndrome

Background and Aims To review the potential exacerbating factors of cardiac function in 2 cases of Noonan syndrome. Methods 2 cases of PTPN11 gene mutation confirmed Noonan syndrome selected for review based on clinical course. Results Male born at 35+3 weeks with antenatal diagnosis of bilateral pleural effusion. Transferred to The Children’s University Hospital on day 10 for management of malrotation; echo revealed structurally normal heart with mild pulmonary hypertension. Day 24 monocytosis and splenomegaly noted. Day 25 echo demonstrated increasing left ventricular hypertrophy (LVH) with normal function. Day 27 diagnosed with Juvenile Myelomonocytic Leukaemia and commenced on treatment with methlyprednisolone. Day 32 repeat echo showed severe LVH with near obliteration of the left ventricle. Rate of acceleration queried to be secondary to glucocorticoids. Patient died day 32 secondary to multisystem organ failure. Male born at 37+6 weeks with antenatal diagnosis of right side pleural effusion. Day 1 profound hypotension resistant to multiple ionotrope support, chest drain inserted and commenced on ionotrope resistant hypotensive dose of hydrocortisone. Echo day 1 moderate biventricular hypertrophy and structurally normal heart. Day 15 echo demonstrated severe left ventricular hypertrophy with significant cardiac compromise. Despite maximum efforts continued to deteriorate and died on day 17. Conclusions Noonan syndrome is an uncommon condition with an association of hypertrophic cardiomyopathy in 20% to 30% of patients. In this case series complications of Noonan syndrome treated with glucocortocoids may have exacerbated cardiac function to an irreversible degree. This should be considered in the management of these patients.

1669 Peripherally Inserted Central Catheter (PICC) Related Superior Vena Cava Syndrome Post Patent Ductus Arteriosus Ligation

Background and Aims To assess incidence, management and outcomes of Superior Vena Cava (SVC) syndrome in post PDA ligation patients in the Rotunda Hospital. PICC’s are used routinely in postoperative paediatric cardiac patients. Following placement, catheter-related thrombosis occurs in 8% to 45% of paediatric patients. Although uncommon, resultant SVC syndrome significantly complicates management of premature infants. Methods A retrospective chart review of infants undergoing PDA ligation from July 2011 to March 2012. Results 5 patients had PDA ligation within the study period. Average gestation at birth was 25+4 weeks and average birth weight was 0.754kg. Surgery was performed at an average weight of 1.027kg and 26.8 days. 9 PICC lines were inserted; mean of 1.8 per patient with removal following a mean of 12.5 days. 2 cases of catheter related thrombosis, post PDA ligation, resulted in SVC obstruction. Both patients had a PICC in situ at the time of surgery, the other 3 patients did not have PICC access during surgery. SVC thrombosis was detected at a mean of 15 days post operatively. One affected patient died subsequently due to complications. Conclusions Post-surgical catheter related thrombosis is well documented. SVC syndrome can infrequently result as a complication, which may cause severe respiratory compromise leading to high morbidity and mortality. As treatment of SVC syndrome is very difficult, especially in post operative patients and with a trend towards fewer PDA ligations, increased awareness in neonatal units may allow early diagnosis and thrombolytic therapy to prevent the progression of this syndrome.

Neonatal therapeutic hypothermia: practice and opinions in the Republic of Ireland

Therapeutic hypothermia (TH) improves mortality and neurological outcome for neonates affected by hypoxic-ischaemic encephalopathy.1 In the Republic of Ireland there are 20 maternity units, with over 50% of units having an annual delivery rate of 2500 or less. Neonatal care is provided in all maternity units but only the eight largest units have a consultant neonatologist. Smaller neonatal units would rarely encounter suitable candidates for TH and presently there is no national strategy in place for the provision of TH. In addition, the neonatal transport service in the Republic …