Increased satisfaction of maternity hospital staff involved in fetal telediagnosis

Questionnaires were sent to 14 maternity hospital staff members for qualitative assessment at the start of fetal telediagnosis and at the end of the study using a five‐point Likert scale: 5, I strongly think so; 4, I think so; 3, I can't decide; 2, I don't think so; 1, I never think so. Ten questionnaires were returned to us (71%). The results showed that the staff reported a significant increase in confidence in performing fetal cardiac screening (score 2.3 at start, 3.4 at study completion; P = 0.034), the rate of score increase rose with the number of telediagnoses (r = 0.72, P < 0.05), feedback from a specialist was very useful (4.4 and 4.9, respectively), and real‐time image transmission was preferred over recorded images (score 3.7 vs 2.4, respectively; P = 0.042). The excellent educational effect of telemedicine is useful for staff members to improve their skills while nurturing their motivation, leading to the promotion of fetal cardiac screening in regional areas.     

Outcome of fetal echocardiography: A 17 year single‐institution experience in Japan

Background: The aim of this retrospective study was to evaluate the influence of prenatal diagnosis on perinatal outcomes of congenital heart disease (CHD) over a 17 year period at a single center. Methods: The perinatal outcome of CHD in 146 patients diagnosed on fetal echocardiography between 1994 and 2010 were reviewed. The characteristics of 193 neonatal inpatients with CHD treated at the authors’ department between 2001 and 2010 were also analyzed; among the inpatients, 61 were diagnosed before birth (prenatal group) and 132 were diagnosed after birth (postnatal group). Results: Among the 146 patients prenatally diagnosed with CHD, the prenatal mortality, including abortion and stillbirth, decreased from 1994 to 2010. Among the 193 neonatal inpatients, the prenatal group had lower gestational age and bodyweight than the postnatal group. Further, the prenatal group had lower blood pH at admission, but no patient in that group experienced ductal shock, although six patients in the postnatal group did. The average dose of prostaglandin E1 used in duct‐dependent CHD was significantly lower in the prenatal group than in the postnatal group (3.4 vs. 4.6 ng/kg per min; P = 0.015). Conclusions: Prenatal diagnosis of CHD enables planned labor, prevents ductal shock, and reduces prostaglandin E1 side‐effects and medical expenditure.     

Children with short‐limbed short stature in pediatric endocrinological services in Japan

Short‐limbed short stature is a heterogeneous condition that can result from many diseases such as bone disorder, metabolic disease, and multiple malformation syndrome. We conducted a questionnaire survey of council members of the Japanese Society of Pediatric Endocrinology and doctors of affiliated hospitals in 2010 to investigate short‐limbed short stature. Among 91 hospitals, responses were obtained from 61 hospitals (67% response rate). This study also examined data of 193 short‐limbed short stature patients, among whom FGFR3‐related chondrodysplasia such as achondroplasia (n = 109; 56.5%) was found the most frequently. Second to achondroplasia, hypochondroplasia (n = 47; 24.4%) was the most frequently observed. Along with achondroplasia and hypochondroplasia, 31 patients with disorders of 13 other kinds and six undiagnosed patients were identified. Genetic testing for hypochondroplasia was conducted for only 27.7% of all hypochondroplasia patients, although hypochondroplasia is a heterogeneous condition with many causes, only one of which is FGFR3 mutation. We conducted a genetic analysis of 25 patients who had been clinically diagnosed as having “hypochondroplasia”. In these patients, other diseases such as acromicric dysplasia, geleophysic dysplasia, and Aarskog–Scott syndrome were included in addition to FGFR3‐related hypochondroplasia (n = 10). Clinical diagnosis of each disorder causing short‐limbed short stature is difficult. Therefore, not only clinical diagnosis but also genetic diagnosis play an important role in the diagnosis of short‐limb short stature. Diagnostic strategies must be created for each disorder.     

The Impact of Fetal Echocardiography on the Prevalence of Liveborn Congenital Heart Disease

Fetal echocardiography allows for early detection of congenital heart disease, and pregnancy termination may be an option in cases of complex defects. In the current study, the most important factors contributing to the diagnosis and termination of affected pregnancies are reviewed and their combined effect on the future prevalence of liveborn congenital heart disease is evaluated. The relative reduction of the prevalence of the most severe forms of congenital heart disease is estimated as the product of the probability that (1) a fetal cardiac screening is performed (p _evaluation), (2) an affected pregnancy is detected (P _detection), (3) pregnancy termination is decided following antenatal diagnosis (P _decision). In areas where termination of pregnancy is a realistic and supported option, a universal sonographic screening of all pregnancies (P _evaluation = 1), with an average reported sensitivity of 35% and a termination rate of 43% following antenatal diagnosis, would result in a 15% overall reduction of the prevalence of the most severe forms of congenital heart disease. However, wide variability exists regarding the defect-specific estimates (2–50% prevalence relative reduction) due to considerable differences in the reported diagnostic sensitivity and termination rates associated with each heart defect. If an earlier diagnosis could be achieved, which is reported to be associated with an average 1.4-fold increased probability of termination, the overall reduction of the prevalence of congenital heart disease could approach 21%. As the skills of obstetric and pediatric cardiology sonographers improve, fetal echocardiography is expected to have a substantial impact on the future epidemiology of liveborn congenital heart disease.     

NASOPHARYNGEAL CARCINOMA IN TURKISH CHILDREN: Review of 33 Cases

A retrospective and prospective analysis is reported of epidemiological, clinical, and therapeutic aspects of 33 children with nasopharyngeal carcinoma who were treated in a single institution over a period of 10 years. Twenty-three male and 10 female children ranging from 9 to 17 years were referred to our center. Histopathology was WHO type 3 carcinoma in 21, WHO type 2 in 8, WHO type 1 in 1, and unclassified in 3 patients. Disease extent was T2a (n = 15), T2b (n = 2), T3 (n = 11), and T4 (n = 5); N1 (n = 5), N2 (n = 12), and N3a (n = 16). Five patients had base of skull invasion. Four patients had M1 disease on admission. Four patients were treated with irradiation only. Three patients received neoadjuvant, 4 patients received adjuvant, and 22 patients received neoadjuvant + adjuvant chemotherapy in addition to radiotherapy. Patients received 50-72 Gy to the primary tumor and involved nodes and 45-50 Gy to uninvolved regions. Chemotherapy consisted of combinations of cisplatin, fluorouracil or Adriamycin, vincristine, and cyclophosphamide. Twenty-nine patients (88%) attained locoregional control. Overall, 10 patients died with progressive disease or infectious complications, and 2 patients are still receiving therapy. Three patients are still living with multiple metastases and stable disease. Eight patients were lost to follow-up. Twelve patients are alive without relapse 3 and 63 months from diagnosis. Seven patients had 6 relapses at distant and 1 relapse at local site. The median time for first relapse was 8 months. Overall, the 5-year survival rate was 63% and disease-free survival rate was 53%. Although the locoregional control rate is high, long-term survival rates will be the real test of the impact of chemotherapy. Further studies are needed to confirm the optimal combination of effective chemotherapeutic agents and radiotherapy.     

Fetal behavioural states and controlled sound stimulation

The aim of this study was to investigate responses of human fetuses near term (37-42 wks) (increase/decrease of fetal heart rate and/or fetal motility) to acoustic stimuli. The study group consisted of 43 patients and the control group of 27 patients. Polygraphic recordings of 5 different fetal variables were carried out synchronously for the categorization of the actual fetal behavioural state according to Nijhuis et al. (Nijhuis, J.G., Prechtl, H.F.R., Martin, C.B., Jr. and Bots, R.S.A.M. (1982): Early Hum. Dev., 6, 177-195). Controlled acoustic stimulation was performed either with sine wave tone (2 kHz, 120 dB and 5 s duration) or modulated sine wave tone (0.5-2 kHz, 'sawtooth' modulation, 120 dB and 5 s duration). An additional group of patients received 'sham' stimulation. Overall 84 acoustic stimulations have been carried out. In 26 out of 84 stimulations (30%) a fetal response could be observed within 5 s after acoustic stimulation. In general, there were far fewer fetal responses in sleep states than in states of wakefulness. Whereas in state 1 F only 1 out of 28 acoustic stimulations was followed by an immediate fetal response, more responses were observed in state 2 F. An obvious increase in fetal reactivity to acoustic stimulation was noted in states of wakefulness (states 3 F and 4 F). Comparison between the true and sham stimulations revealed a relatively high level of spontaneous fetal activity (high variation of fetal heart rate and fetal motility) present in states 2 F and 4 F. This must be taken into account in all assessments of fetal responses.(ABSTRACT TRUNCATED AT 250 WORDS)     

Echocardiographic findings of pulmonary atresia or critical pulmonary stenosis and intact ventricular septum in utero

BACKGROUND: Neonates with right ventricular outflow obstruction and intact ventricular septum show serious hemodynamic problems, such as severe hypoxemia, congestive heart failure due to massive tricuspid regurgitation, respiratory distress related to huge pulmonary hypoplasia or ventricular dysfunction due to right ventricle-coronary communication. Recent advances in fetal diagnosis include many cases of in utero diagnosis of pulmonary atresia or critical pulmonary stenosis and intact ventricular septum. METHOD: Among the fetuses examined from April 1994 to March 1998, five fetuses were found with pulmonary atresia (PA) or critical pulmonary stenosis (CPS). Fetal echocardiograms were reviewed to elucidate the accuracy of fetal information and the efficacy of fetal diagnosis in the perinatal management of patient with CPS or PA and intact ventricular septum. RESULTS: The five cases were divided into two groups: two with a very small right ventricle (group 1) and three with a tripartite right ventricle (group 2). Fetal cardiomegaly and right atrial dilatation were prominent in group 2, whereas cardiac sizes were normal in group 1. Serial fetal examination in one group 2 fetus revealed developing right ventricular hypertrophy in utero. All group 2 cases showed massive tricuspid regurgitation (TR). Estimated right ventricular pressures from TR always exceeded the systemic blood pressures of gestational age-matched neonates. Reversed flow through the ductus arteriosus was recorded in both groups and ductus-dependent pulmonary circulation after birth was anticipated. Patency of both tricuspid and pulmonary valves was difficult to recognize in utero, as was right ventricle-coronary artery communication. Four of the five cases were maternally transported and survived palliative and/or definitive intervention. One fetus with chromosomal abnormality was observed without intervention during infancy and received palliative surgery when she was two years old. CONCLUSION: Fetal hemodynamic information was useful for making decisions not only after birth, but also in utero, and may eventually result in improving the prognosis of babies with PA/CPS. Serial observation of the fetuses with PA/CPS may also suggest the possible pathogenesis of PA/CPS in utero.     

Delayed recognition of haemodynamically relevant congenital heart disease

Delayed recognition of congenital heart defects may have a serious impact on the long-term outcome of the children affected. It was the aim of the present study, to evaluate the proportion of children with delayed cardiac diagnosis out of a large cohort of consecutive paediatric patients requiring treatment for congenital heart disease. A prospective study was performed over a 3-year period. Of all 323 paediatric patients requiring surgical (n=291) or catheter interventional (n=32) treatment for congenital heart disease, patients with delayed diagnosis of their cardiac defects were observed and especially examined for the presence of clinical cardiac findings other than systolic murmurs, not recognized as such prior to referral. Of all the patients, 32 (10%) had delayed diagnosis of heart defects. Surprisingly, the proportion of late diagnoses was not different in the group of patients with cyanotic heart disease where 7/72 patients were referrred with delay, compared to 25 delayed referrals among 251 children with acyanotic heart defects. Of the 32 patients with delayed diagnosis, 7 had complications due to delayed referral, but there was no mortality associated with late diagnosis. Conclusion A substantial proportion of all paediatric patients requiring intervention for heart disease were diagnosed with relevant delay. In all study patients with late diagnosis, clinical cardiac findings other than systolic murmurs were present that should have alerted the physician on the possible presence of underlying heart disease. Received: 30 June 2000 / Accepted: 15 December 2000     

Value of antenatal echocardiography in high risk patients to diagnose congenital cardiac defects in fetus

Results of fetal echocardiography in 1062 high risk pregnant patients are described. It was performed before 28 weeks of gestation in 770 cases. These were 38 abnormal scans (3.6%). A fetal arrhythmia was diagnosed in 14 cases and structural abnormality of the heart in 24. Complete atrioventricular block was commonest (n=12), structural heart disease associated in two of these cases. Other lesions identified were atrioventricular septal defect (n=5), hypoplastic left heart syndrome (n=4), ventricular septal defect (n=4), Ebstein’s anomaly (n=3), coarctation of aorta (n=2) and others (n=9). Postnatal confirmatory echocardiography is available in a total of 993 babies including 36 of 38 abnormal cases. There were eleven neonatal deaths amongst babies with abnormal scans. Errors in interpretation were observed in six instances. An anomaly was missed in five cases; in two of these, the main cardiac malformation was picked up but secondary lesions were missed. In one case, a false positive diagnosis of atrial septal defect was made. These errors did not influence the management of the pregnancy. Fetal echocardiography is a very sensitive (91.6%) and specific (99.9%) tool for antenatal diagnosis of congenital heart disease in high risk pregnancies. The information so obtained helps in guiding the optimal obstetric and neonatal management of these cases.     

The results of surgical treatment of chest wall tumors in childhood

Chest wall tumors (CWT) are rarely seen in childhood and surgery constitutes a complementary part of the therapy. The early and late results of CWT resection and chest wall reconstruction were evaluated retrospectively. The children who underwent chest wall resection for CWT between January 1990 and November 2003 were evaluated retrospectively. Seventeen children (male/female=12/5, mean age: 7.58 years) underwent chest wall resection for CWT. Fifteen patients underwent initial biopsy (tru-cut, n=8 or open biopsy, n=7) and two underwent initial resection. The diagnosis was malignant tumor in 12 (70%) and benign in 5 (30%). They were Ewing’s sarcoma (ES) (n=4), primitive neuroectodermal tumor (PNET) (n=3), Askin’s tumor (n=1), rhabdomyosarcoma (RMS) (n=2), neuroblastoma (n=2), osteochondroma (n=1), aneurysmal bone cyst (n=2) and hamartoma (n=2). Preoperative chemotherapy was given to most patients with malignant tumor. All patients had only local tumor at the time of resection. Thoracotomy was performed in all patients. All tumor tissues with the affected rib/ribs were resected en bloc with the adjacent tissues. The number of resected ribs was 1 (n=6), 2 (n=7) and 3 (n=4). Chest wall defects were repaired primarily (n=8) or with grafts (n=9). Dura (n=4), Neuro-patch (n=3) and Goretex (n=2) were used for closure. Wound infection and pleural fistula occurred in one patient. Patients with benign tumor were free of complaints or complications during follow up. All patients with malignant tumor received postoperative chemotherapy. Local recurrence did not occur in all patients. Five patients developed distant metastasis and two died. Scoliosis was encountered in one patient during follow-up. Since most of the CWT are malignant and not initially suitable for surgical excision, the management includes tissue diagnosis either by tru-cut or open biopsy. Determination of malignant condition should be followed by an intensive chemotherapy. Chest wall resection is planned to control local disease. Chest wall reconstruction may be needed for large defects following resection of CWT. Prosthetic materials can be used safely. Early complications of the surgery are limited. The patients should be closely followed up for late complications such as scoliosis, restrictive pulmonary disease and for the development of metastasis, which is a part of natural course of malignant CWT in children.     

Prenatal findings of holoprosencephaly

Holoprosencephaly (HPE) is a rare brain abnormality characterized by an incomplete cleavage of the primitive prosencephalon of forebrain during early embryogenesis. To determine the clinical characteristics and outcome of fetuses with HPE, we retrospectively analyzed nine patients who were prenatally diagnosed as fetal HPE by ultrasounds. The mean diagnostic weeks were 20 weeks of gestation. Two cases died within one day after birth. The chromosomal examinations were performed in seven cases (trisomy 18: n = 2; trisomy 13: n = 2; 45,XX,der(18)t(18;21)(p10;p10)mat: n = 1; normal karyotype: n = 2). In our HPE cases, most cases had serious facial anomalies and poor prognosis. Our data suggested that the early prenatal diagnosis of HPE allowed time for parental counseling and delivery planning.     

Lupus Anticoagulant Positivity in Pediatric Patients With Prolonged Activated Partial Thromboplastin Time: A Single-Center Experience and Review of Literature

The presence of lupus anticoagulants (LAs) is an important cause of activated partial thromboplastin time (aPTT) prolongation found in children after an infection or during screening tests before surgical intervention. The authors retrospectively reviewed the charts of 68 patients who have been consulted from surgery departments with prolonged aPTT. These patients were reevaluated with aPTT analysis after 1 week. Thirteen patients had normal aPTTs. Therefore, 55 patients remained with prolonged aPTTs. LA positivity was detected in 39 patients. Sixteen of these had prolonged aPTT prior to surgery (41%). Others with LA positivity had systemic lupus erythematosus (SLE; n = 6), infection (n = 5), leukemia (n = 3), hemolytic uremic syndrome (n = 2), epistaxis (n = 2), antiphospholipid syndrome (APS; n = 1), chronic immune thrombocytopenic purpura (n = 1), acute poststreptococcal glomerulonephritis (n = 1), central nervous system (CNS) thrombosis (n = 1), and congenital heart disease (n = 1). None of the patients had bleeding history. LA positivity rarely leads to bleeding and/or thrombosis. Specific therapy is usually not needed. Further prospective multicenter studies are required to understand clinical outcomes and laboratory correlation in children with positive LA.     

Creation and Enlargement of Atrial Defects in Congenital Heart Disease

Transcatheter creation and enlargement of interatrial defects (IAD) may improve hemodynamics; however, procedural outcomes have not been well defined. Hospital records were reviewed for children who underwent percutaneous procedures to create and enlarge an IAD and were grouped as follows: (1) right and (2) left heart obstructive lesions, (3) left atrial (LA) decompression during left heart assist, (4) failing Fontan circulation, and (5) miscellaneous. Forty-five children (mean age, 3.4 ± 4.7 years; 30 (67%) male) were identified. In group 1 (n = 6), all achieved endpoints of right atrial (RA) decompression (n = 2), improved left ventricular filling (n = 3), or improved arterial saturations (n = 1). In group 2 (n =18), mean LA pressure decreased (21 ± 6 to 13 ± 5 mmHg, p < 0.001) and arterial saturations increased (61 ± 13% to 78 ± 11%, p < 0.001). All except 2 patients achieved definitive repair, further palliation (n = 9), or heart transplantation (HTX) (n = 7). In group 3 (n = 5), the LA was decompressed (21 to 13 mmHg, p = 0.03) in all, and all except 1 patient survived to HTX (n = 2) or full recovery (n = 2). In group 4 (n = 11), of 7 patients with a low cardiac output syndrome after surgery, despite improved atrial shunting, 3 died and 1 required a HTX. In group 5 (n=5), RA decompression (n = 1) or improved arterial saturation (n = 4) was achieved in all. Overall, 5-year HTX free survival was 75%. Mechanical ventilation before the procedure (p < 0.001), the need for a blade septostomy (p = 0.002), and higher LA pressures after the procedure (p = 0.04) independently predicted mortality or the requirement for HTX. Transcatheter optimization of an atrial communication can help optimize treatment strategies and has a low procedural risk.     

Prenatal diagnosis of Gaucher disease using next‐generation sequencing

In the prenatal diagnosis of Gaucher disease (GD), glucocerebrosidase (GBA) activity is measured with fetal cells, and gene analysis is performed when pathogenic mutations in GBA are identified in advance. Herein is described prenatal diagnosis in a family in which two children had GD. Although prior genetic information for this GD family was not obtained, next‐generation sequencing (NGS) was carried out for this family because immediate prenatal diagnosis was necessary. Three mutations were identified in this GD family. The father had one mutation in intron 3 (IVS2 + 1), the mother had two mutations in exons 3 (I[‐20]V) and 5 (M85T), and child 1 had all three of these mutations; child 3 had none of these mutations. On NGS the present fetus (child 3) was not a carrier of GD‐related mutations. NGS may facilitate early detection and treatment before disease onset.     

Hyperechoic lesions in the basal ganglia: An incidental sonographic finding in neonates and infants

Cerebral ultrasound (US) imaging was performed as a screening procedure in approximately 3,600 neonates and infants over a period of 18 months. Hyperechoic lesions in the basal ganglia and thalamic region were detected incidentally in 15 of these patients. Clinical diagnoses included cytomegalovirus infection, asphyxia, rotavirus infection, prematurity, amniotic infection, dysmorphic stigmata, hyperbilirubinemia, congenital heart disease, and diabetic fetopathia. Lesions showed a single punctate (n=5), multiple punctate (n=8), or stripe-like pattern (n=2), with no disease-specific distribution. Computed tomography performed in two of the 15 patients was normal. Lesions resolved within four to seven months in four of eleven cases who had follow-up studies, whereas echogenicities persisted in the remaining seven patients over a period of observation ranging between one to 15 months. Our results indicate that hyperechoic lesions in the basal ganglia and thalamic region may be associated with congenital infections and asphyxia, but could indicate some other unknown pathology. No correlation was found between the morphology of foci and both clinical diagnosis and results of follow-up studies.     

Prehospital Discharge Car Safety Seat Testing of Infants After Congenital Heart Surgery

Background This study aimed to expand the American Academy of Pediatrics (AAP) car safety seat testing recommendation to include high-risk infants after cardiac surgery. Methods Car safety seat testing (≤4 days before discharge), performed according to AAP guidelines, was retrospectively reviewed for 66 postoperative infants. Failure was defined as apnea, bradycardia, or oxygen desaturation. Results The average birth weight of the study infants was 3.1 ± 0.5 kg. Two patients were born at less than 37 weeks gestation. Surgical procedures included modified Blalock–Taussig shunt technique (n = 15), arterial switch operation (n = 12), Norwood Sano modification (n = 11), coarctation repair (n = 8), repair of tetralogy of Fallot (n = 6), repair of truncus arteriosus (n = 4), repair of total anomalous pulmonary venous return (n = 3), pacemaker placement (n = 2), repair of interrupted aortic arch and ventriculoseptal defect (VSD) (n = 1), repair of coarctation and VSD (n = 1), orthotopic heart transplant (n = 1), repair of VSD (n = 1), and patent ductus arteriosus ligation (n = 1). The average age at discharge was 28 ± 21 days. Four patients (6%) failed car safety seat testing because of a fall in oxygen saturation. One of the four patients passed on retesting after parental education, whereas three of the four (75%) were discharged home in a supine car safety seat. There was no relationship between the type of surgery and car safety seat test failure. Conclusion It may be beneficial to extend the AAP recommendations for car safety seat testing to include high-risk infants after cardiac surgery.     

Oophorectomy in children. Who and why: 13-year experience in a single centre

Aim: Oophorectomy performed in children is extremely uncommon. We aimed to investigate the disease pattern and the association between the underlying pathology and the clinical presentation among those patients who had their ovaries removed in their childhood. Methods: A retrospective study was performed on 41 consecutive children who underwent oophorectomy in a tertiary referral centre in the period between June 1995 and May 2008. Results: The median age was 11 years, ranged from 11 weeks to 15 years at the time of surgery. The primary presentations were acute lower abdominal pain (n= 20), progressive abdominal distension or abdominal mass (n= 13), chronic abdominal pain (n= 3), irregular menses (n= 1), antenatal diagnosis (n= 3) and incidental finding (n= 1). Ultrasound examination was performed in 31 patients and positive findings of ovarian pathology were found in all but one examination. Twenty cases of ovarian torsion were confirmed intra‐operatively. Patients presenting with acute abdominal pain were more likely to have torsion than other presentations (P < 0.01). Non‐neoplastic conditions and ovarian neoplasms were found in 11 and 30 patients, respectively. The most common neoplasm was mature teratoma (52%). Malignant neoplasms included immature teratoma (n= 3), dysgerminoma (n= 1), mixed dysgerminoma + yolk sac tumour (n= 2), yolk sac tumour (n= 2) and juvenile granulose cell tumour (n= 1). Malignant neoplasms were found to have more chronic presentation and less torsion than benign pathologies (P < 0.05). Conclusion: Although ovarian pathology is uncommon in children, a girl presenting with acute lower abdominal pain or progressive abdominal distension should raise the suspicion and prompt immediate investigation to rule out ovarian torsion or ovarian neoplasms.     

Fetal and post-natal diagnosis of major congenital heart disease: implications for medical and psychological care in the current era

Aim: The fetal or post‐natal diagnosis of major congenital cardiac abnormality has important medical and psychological consequences. Methods: We reviewed infants who underwent cardiac surgery in the first year of life at the Heart Centre for Children, The Children's Hospital at Westmead during 2009. The aims of this study were to: (i) examine the key features of cardiac diagnosis and clinical outcome, and (ii) consider how these data can inform priorities for the delivery of clinical services. Results: Over the 12‐month study period, a first cardiac surgical procedure was performed on 195 infants, with 85 infants (44%) diagnosed in the antenatal period. Of the total sample, a subset of 90 babies (46%) underwent their first procedure in the neonatal period, with 62% having had a fetal diagnosis. Major intracardiac lesions including truncus arteriosus (100%), single ventricular lesions (83%), pulmonary atresia with ventricular septal defect (78%) and transposition of the great arteries (53%) were diagnosed prior to birth. Improved haemodynamic stability at initial presentation was found in those with a fetal diagnosis. The overall mortality rate for all patients was 6.1% at 12 months, with a higher mortality in infants with single ventricle. Conclusions: The contemporary paradigm of care for infants with major congenital heart disease requires a multidisciplinary approach to care, with improvements in clinician–clinician and clinician–family communication, and psychological support and education for families. Changes in the allocation of resources are required to meet this model of best practice.     

Ketoacidosis at diagnosis of type 1 diabetes: Effect of prospective studies with newborn genetic screening and follow up of risk children

We studied the frequency of diabetic ketoacidosis (DKA) in children at diagnosis of type 1 diabetes (T1D) in a region where newborn infants have since 1995 been recruited for genetic screening for human leukocyte antigen (HLA)‐conferred disease susceptibility and prospective follow up. The aim was to study whether participation in newborn screening and follow up affected the frequency of DKA, and to follow the time trends in DKA frequency. We first included children born in Oulu University Hospital since 1995 when the prospective studies have been ongoing and diagnosed with T1D <15 years by 2015 (study cohort 1, n = 517). Secondly, we included all children diagnosed with T1D <15 years in this center during 2002‐2014 (study cohort 2, n = 579). Children who had an increased genetic risk for T1D and participated in prospective follow up had low frequency of DKA at diagnosis (5.0%). DKA was present in 22.7% of patients not screened for genetic risk, 26.7% of those who were screened but had not an increased risk and 23.4% of children with increased genetic risk but who were not followed up. In study cohort 2 the overall frequency of DKA was 18.5% (13.0% in children <5 years, 14.0% in children 5‐10 years and 28.6% in children ≥10 years at diagnosis; P<.001). In children <2 years the frequency of DKA was 17.1%. Participation in prospective follow‐up studies reduces the frequency of DKA in children at diagnosis of T1D, but genetic screening alone does not decrease DKA risk.     

Leptomeningeal metastases in pediatrics: magnetic resonance image manifestations and correlation with cerebral spinal fluid cytology

Background: Detection of leptomeningeal metastases is fundamental to a complete evaluation of central nervous system (CNS) or non‐CNS tumor with suspected involvement of the neuroaxis. Our purpose was to assess the appearances of different magnetic resonance (MR) sequences in the diagnosis of leptomeningeal metastases and correlate those positive findings with the cerebral spinal fluid (CSF) cytology results. Methods: The authors reviewed the medical records and MR image manifestations of leptomeningeal metastases from 18 children who had positive MR findings and retrospectively correlated them with CSF cytologic results. There was a uniform MR protocol and the patients were examined with the same sequences. Results: The abnormalities included pial‐arachnoid disease (n= 16), disease coating the nerves (n= 12), hydrocephalus (n= 3) and subependymal metastases (n= 2). Enhanced T1 images were better than unenhanced fluid attenuated inversion recovery (FLAIR) and T2 to delineate cranial and spinal leptomeningeal metastases. In our sample, seven out of 18 cases were cytologically negative on a single lumbar puncture. Conclusions: Contrast‐enhanced MR imaging can be invaluable, detecting the false‐negative lumbar punctures. FLAIR and diffusion images can be helpful in diagnosing leptomeningeal metastases of non‐enhancing primary tumors. Prognosis was more related to the primary tumor type than to the leptomeningeal enhancement MR pattern.