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Objective: The Japan Resuscitation Council (JRC) Guidelines 2010 for neonatal resuscitation introduced continuous positive airway pressure (CPAP) in delivery room. The present study evaluated the effect of CPAP for pulmonary air leak at term birth. Design, setting and patients: This retrospective single-centre study used the data of term neonates who were born without major congenital anomalies at our centre between 2008 and 2009, and between 2011 and 2012. Interventions: Resuscitation according to the JRC Guidelines 2010. Main outcome measures: We examined the association between the JRC Guidelines 2010, CPAP by face mask and pulmonary air leak. Results: A total of 5038 infants were analysed. The frequency of CPAP by face mask increased after the update of the JRC Guidelines in 2010 (1.7% vs 11.1%; p<0.001). Pulmonary air leak increased at early term (37 weeks: 1.0% vs 3.5%, p=0.02; 38 weeks: 0.7% vs 2.2%, p=0.02). While adjusting for confounders, the JRC Guidelines 2010 was associated with pulmonary air leak in early-term neonates (37 weeks: adjusted OR (aOR) 4.37; 95% CI 1.40 to 17.45; 38 weeks: aOR 2.80; 95% CI 1.04 to 8.91), but this association disappeared while adjusting for face mask CPAP additionally (37 weeks: aOR 1.90; 95% CI 0.47 to 8.71; 38 weeks: aOR 1.66; 95% CI 0.54 to 5.77). Conclusions: Following the update of the JRC guidelines on neonatal resuscitation, we observed an increased use of CPAP via face mask, which was associated with a higher prevalence of pulmonary air leak in early-term neonates in our centre. [ABSTRACT FROM AUTHOR]

Background: For major congenital heart disease, the benefits of antenatal diagnosis on some post-natal measures have been suggested. However, findings have been inconclusive and focus on short term outcome measures alone with little data from a UK population. Our aim is to describe differences in reported outcomes for patients born with isolated Hypoplastic Left Heart Syndrome or Transposition of the Great Arteries in a UK population, following either antenatal or postnatal diagnosis. Methods: Retrospective population-based study with case note review covering a 15 year period (1st January 1998 to 31st December 2012) in the British county of Leicestershire. Cases were identified from two local registers: the East Midlands and South Yorkshire Congenital Anomaly Register and a list of surgical patient held by the East Midlands Congenital Heart Centre. Results: In total 52 cases of Hypoplastic Left Heart Syndrome or Transposition of the Great Arteries were identified with 24 (46.2%) diagnosed antenatally. Maximum and minimum follow up was 181 and 16 months respectively. Median follow up was 83 months (IQR: 44-111). The risk of intubation in the postnatal period (OR: 4.64, 95% CI: 1.40 - 15.32) was greater in cases of Hypoplastic Left Heart Syndrome or Transposition of the Great Arteries diagnosed after birth when compared to those diagnosed antenatally. There was a non-significant increase in the risk of metabolic acidosis in the postnatal period (OR: 12.5, 95% CI: 0.64 - 245.46). No differences in mortality or long-term outcomes were demonstrated between antenatally and postnatally diagnosed cohorts. Conclusions: These results confirm data from American and European populations that, for a British population, an antenatal diagnosis of a major congenital heart disease can have a favourable impact on some postnatal outcome measures. There appears to be no evidence that time of diagnosis impacts on long-term outcome measures. [ABSTRACT FROM AUTHOR]

Background Holt-Oram syndrome (HOS) is an autosomal dominant disorder characterised by upper limb anomalies and congenital heart defects. We present epidemiological and clinical aspects of HOS patients using data from EUROCAT (European Surveillance of Congenital Anomalies) registries. Methods The study was based on data collected during 1990-2011 by 34 registries. The registries are population-based and use multiple sources of information to collect data on all types of birth using standardized definitions, methodology and coding. Diagnostic criteria for inclusion in the study were the presence of radial ray abnormalities and congenital heart disease (CHD), or the presence of either radial ray anomaly or CHD, with family history of HOS. Results A total of 73 cases of HOS were identified, including 11 (15.1%) TOPFA and 62 (84.9%) LB. Out of 73 HOS cases, 30.8% (20/65) were suspected prenatally, 55.4% (36/65) at birth, 10.7% (7/65) in the first week of life, and 3.1% (2/65) in the first year of life. The prenatal detection rate was 39.2% (20/51), with no significant change over the study period. In 55% (11/20) of prenatally detected cases, parents decided to terminate pregnancy. Thumb anomalies were reported in all cases. Agenesis/hypoplasia of radius was present in 49.2% (30/61), ulnar aplasia/hypoplasia in 24.6% (15/61) and humerus hypoplasia/phocomelia in 42.6% (26/61) of patients. Congenital heart defects (CHD) were recorded in 78.7% (48/61) of patients. Isolated septal defects were present in 54.2 (26/48), while 25% (12/48) of patients had complex/severe CHD. The mean prevalence of HOS diagnosed prenatally or in the early years of life in European registries was 0.7 per 100,000 births or 1:135,615 births. Conclusions HOS is a rare genetic condition showing regional variation in its prevalence. It is often missed prenatally, in spite of the existence of major structural anomalies. When discovered, parents in 45% (9/20) of cases opt for the continuation of pregnancy. Although a quarter of patients have severe CHD, the overall first week survival is very good, which is important information for counselling purposes. [ABSTRACT FROM AUTHOR]

Background: This study describes the prevalence, associated anomalies, and demographic characteristics of cases of multiple congenital anomalies (MCA) in 19 population-based European registries (EUROCAT) covering 959,446 births in 2004 and 2010., Methods: EUROCAT implemented a computer algorithm for classification of congenital anomaly cases followed by manual review of potential MCA cases by geneticists. MCA cases are defined as cases with two or more major anomalies of different organ systems, excluding sequences, chromosomal and monogenic syndromes., Results: The combination of an epidemiological and clinical approach for classification of cases has improved the quality and accuracy of the MCA data. Total prevalence of MCA cases was 15.8 per 10,000 births. Fetal deaths and termination of pregnancy were significantly more frequent in MCA cases compared with isolated cases (p < 0.001) and MCA cases were more frequently prenatally diagnosed (p < 0.001). Live born infants with MCA were more often born preterm (p < 0.01) and with birth weight < 2500 grams (p < 0.01). Respiratory and ear, face, and neck anomalies were the most likely to occur with other anomalies (34% and 32%) and congenital heart defects and limb anomalies were the least likely to occur with other anomalies (13%) (p < 0.01). However, due to their high prevalence, congenital heart defects were present in half of all MCA cases. Among males with MCA, the frequency of genital anomalies was significantly greater than the frequency of genital anomalies among females with MCA (p < 0.001)., Conclusion: Although rare, MCA cases are an important public health issue, because of their severity. The EUROCAT database of MCA cases will allow future investigation on the epidemiology of these conditions and related clinical and diagnostic problems., (Copyright © 2014 Wiley Periodicals, Inc.)

Objectives: To investigate socioeconomic inequalities in outcome of pregnancy and neonatal mortality associated with congenital anomalies., Design: Retrospective population based registry study., Setting: East Midlands and South Yorkshire regions of England (representing about 10% of births in England and Wales)., Participants: All registered cases of nine selected congenital anomalies with poor prognostic outcome audited as part of the United Kingdom's fetal anomaly screening programme with an end of pregnancy date between 1 January 1998 and 31 December 2007., Main Outcome Measures: Socioeconomic variation in the risk of selected congenital anomalies; outcome of pregnancy; incidence of live birth and neonatal mortality over time. Deprivation measured with the index of multiple deprivation 2004 at super output area level., Results: There were 1579 fetuses registered with one of the nine selected congenital anomalies. There was no evidence of variation in the overall risk of these anomalies with deprivation (rate ratio for the most deprived 10th with the least deprived 10th: 1.05, 95% confidence interval 0.89 to 1.23). The rate ratio varied with type of anomaly and maternal age (deprivation rate ratio adjusted for maternal age: 1.43 (1.17 to 1.74) for non-chromosomal anomalies; 0.85 (0.63 to 1.15) for chromosomal anomalies). Of the nine anomalies, 86% were detected in the antenatal period, and there was no evidence that this varied with deprivation (rate ratio 0.99, 0.84 to 1.17). The rate of termination after antenatal diagnosis of a congenital anomaly was lower in the most deprived areas compared with the least deprived areas (63% v 79%; rate ratio 0.80, 0.65 to 0.97). Consequently there were significant socioeconomic inequalities in the rate of live birth and neonatal mortality associated with the presence of any of these nine anomalies. Compared with the least deprived areas, the most deprived areas had a 61% higher rate of live births (1.61, 1.21 to 2.15) and a 98% higher neonatal mortality rate (1.98, 1.20 to 3.27) associated with a congenital anomaly., Conclusions: Antenatal screening for congenital anomalies has reduced neonatal mortality through termination of pregnancy. Socioeconomic variation in decisions regarding termination of pregnancy after antenatal detection, however, has resulted in wide socioeconomic inequalities in liveborn infants with a congenital anomaly and subsequent neonatal mortality.