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The purpose was to study the outcomes and factors affecting the survival of esophageal atresia in our center. A retrospective analysis of 86 cases of esophageal atresia (EA) over a 10-year period was performed with 46 boys and 42 girls. Demographic data, birth weight, gestational age, consanguinity, incidence of associated anomalies, place of delivery, history of feeding, and outcomes were studied. EA with distal tracheoesophageal fistula (TEF) was the commonest type with 58/86 (67%). The percentage of patients with at least one associated anomaly was 52/86 (60%), with 7/86 (8%) who are from consanguineous parents; most commonly associated anomalies were cardiac 13/86 (15%). The average gestational age and birth weight were 36 ± 2 weeks and 2300 ± 570 g, respectively. Survival rates for the patients according to the Waterston classification was 80% in group A, 58% in group B, and 25% in group C (three patients died before surgery). Prematurity, the gap between the two ends of the esophagus, and preoperative respiratory status were the most significant factors affecting the survival. Late complication of EA/TEF include respiratory symptoms, especially in the first year, associating tracheomalacia and bronchopulmonary infections in about 24/45 (53%), recurrence of TEF 3/45 (7%), esophageal stricture 26/45 (58%), and gastroesophageal reflux 22/45 (49%). The high incidence of delayed diagnosis, low birth weight, and lack of advanced neonatological management are important contributory factors to the poor outcome. The frequency of late complications highlights the need for multidisciplinary clinics to follow these children's., (© 2014 International Society for Diseases of the Esophagus.)

Introduction: The mixed total anomalous pulmonary connection is a rare type of congenital cardiopathy. The occurrence of multiple connections of the pulmonary veins has important implication in the diagnosis and surgical planning. These types of total anomalous pulmonary venous connection (TAPVC) and the infracardiac have higher surgical mortality., Methods: Between December 1994 and July 2013, a total of 58 children underwent surgical treatment of TAPVC. Twenty-five (43.1%) patients had supracardiac connection, 15 (25.8%) patients had intracardiac type, 12 (20.6%) patients had a mixed type, and 6 (10.3%) patients had an infracardiac type. In children with mixed TAPVC, four (33.3%) patients had type I, five (41.6%) patients had type II, and three (25.0%) patients had type III. The diagnosis of TAPVC was performed in all patients using Doppler echocardiography, and they underwent cardiopulmonary bypass with aorta-bicaval cannulation and lately we use mild hypothermia with normal flow. The drainage channels were ligated in all patients., Results: The immediate surgical results were as follows: one (16.6%) death in the infracardiac group, four (16.0%) deaths in the supracardiac group, one (8.3%) death in the mixed group, and no death in the cardiac group (no statistical difference, P = .488)., Conclusion: In this series of patients, the mixed TAPVC could be corrected only with preoperative two-dimensional Doppler echocardiography with good immediate results, and we believe that the use of computed angiotomography combined with three-dimensional reconstruction may improve the surgical outcome mainly in the mixed and infracardiac group of TAPVC., (© The Author(s) 2014.)

Background: The aims of this study were to determine the prevalence of congenital lower-limb reduction defects and associated mortality, to evaluate lower-limb deficiencies by type of reduction, and to identify patterns of associated anomalies., Methods: We conducted a population-based study with use of data from the Finnish Register of Congenital Malformations and Care Register for Health Care. All cases of lower-limb deficiency among live births, stillbirths, spontaneous abortions, and terminations of pregnancy due to fetal anomalies from 1993 to 2008 were included. We analyzed medical records and classified lower-limb reduction defects. Associated major anomalies were recorded, and perinatal mortality and infant mortality were calculated., Results: Two hundred and sixty-six cases with lower-limb deficiency were identified, with a total prevalence of 2.8 per 10,000 births, a birth prevalence of 2.2 per 10,000 births, and a live-birth prevalence of 2.1 per 10,000 live births. Terminal transverse limb reductions accounted for 44.7% of the cases; longitudinal reductions, 22.9%; intercalary reductions, 7.9%; multiple reductions, 8.3%; and split-foot malformations, 4.5%. In addition to lower-limb deficiency, 47.7% of the cases had other major anomalies; anomalies of internal organs were noted in 26.3% of the cases, anomalies of the axial skeleton in 13.5% of cases, and central nervous system anomalies in 12.8%. Upper-limb reductions were observed in 32.0% of the cases. The relative risk (RR) for associated major anomalies was 12.54 (95% confidence interval [CI], 11.06 to 14.23) compared with the general figures for major congenital anomalies in Finland. The RR for associated anomalies was higher (1.75; 95% CI, 1.20 to 2.53) for longitudinal preaxial lower-limb deficiencies than for the other types of lower-limb reductions. Perinatal mortality was seventy-eight per 1000 births. All infant deaths were associated with chromosomal abnormalities, other known syndromes, or additional congenital malformations., Conclusions: Nearly half of the cases with lower-limb deficiencies were found to have other major anomalies. In cases of preaxial lower-limb deficiencies, the risk for associated major anomalies was highest., (Copyright © 2014 by The Journal of Bone and Joint Surgery, Incorporated.)

Background: Omphalocele is a congenital abnormality whose prognosis has improved significantly over the last few decades, reaching a survival rate of 80-90% in developed countries. Currently, in Romania no comprehensive study on the incidence, treatment, and survival of patients with this defect of the anterior abdominal wall has been carried out., Methods: This retrospective analytical study was conducted over a period of 23 years and included 105 children with omphalocele. Prenatal diagnosis, referral to our hospital, children age upon admission, associated diseases, medical and surgical management, early and late postoperative complications, and the length of hospital stay were analysed., Results: The low rate of antenatal diagnosis (13.3%), the high frequency of associated congenital malformations (71.4%) and chromosomal abnormalities (27.6%), inadequate and delayed transport to a specialized pediatric surgery center together with an increased rate of sepsis (37.1%)resulted in a high mortality rate (54.3%)., Conclusions: The significantly reduced length of hospital stay and higher survival rate despite the apparently more frequent medical complications plead for the surgical treatment of omphalocele whenever not contraindicated by the presence of severe pulmonary hypoplasia, cardiac defects, immaturity and other severe congenital anomalies, when conservative treatment is indicated., (Celsius.)

Background: Atrioventricular septal defects (AVSD) are very commonly diagnosed in utero. Heterotaxy/chromosomal abnormalities frequently coexist with AVSD. However, outcomes of fetal AVSD are not precisely known. We attempted to define mortality risk factors in AVSD., Method: We retrospectively searched our database, electronic records, and echocardiograms with diagnosis of fetal AVSD from 2003 to 2012. We investigated the following risk factors: atrial situs, heart rate/rhythm, ventricular dominance/morphology, atrioventricular valve regurgitation, cardiothoracic ratio, ejection fraction, and extracardiac anomalies., Results: Forty-five fetuses with a median gestational age of 28 weeks (17.5-37.1) were determined to have AVSD during the 10 years, of which 12 were either lost to follow-up (6) or underwent termination (6). There were 16 deaths (48%); two died in utero. Isomerism was identified in 17 of 45 (37%) fetuses (11 left atrial, 6 right atrial isomerism) and chromosomal abnormalities were identified in 12 (27%). Twenty-eight of 33 fetuses, not lost to follow-up or terminated, had extracardiac anomalies which had associated increased mortality (57% vs. 0%, P = .04). Heart block (75% vs. 43%, P = .12), left ventricular noncompaction (80% vs. 43%, P = .17), and isomerism (63% vs. 41%, P = .28) were associated with mortality but without statistical significance. Twenty-five of 45 (56%) had unbalanced AVSD. Positional abnormalities of the great arteries or semilunar valve stenosis were present in 20/45 (44%) while venous anomalies were present in 16/45 (36%). Presence of ventricular dominance, atrioventricular valve regurgitation, elevated cardiothoracic ratio, or diminished ejection fraction were not associated with mortality., Conclusion: Overall mortality rate for fetuses with AVSD was 48%. The presence of extracardiac anomalies is an independent risk factor for prediction of fetal or neonatal demise. Heart block, isomerism, and noncompaction in fetal AVSD appear to be associated with poor outcomes as well but did not reach statistical significance. This information is useful for counseling parents with fetus AVSD., (© 2013 Wiley Periodicals, Inc.)

Background: Congenital anomalies are one of the important reasons of mortality and morbidity in newborns. The aim of this study is to determine the incidence, distribution and the mortality of the congenital anomalies in a single neonatal intensive care unit (NICU) from Turkey., Method: A retrospective analysis was performed between 2005 and 2012 in NICU using a computerized database. Variables including the type of anomaly, antenatal and postnatal history, gestational age, birth weight, consanguinity and other demographic, clinical and related laboratory variables were extracted from the computerized database using ICD-10 codes. Congenital anomalies were classified according to involved organ systems and also classified as single and multiple anomalies., Results: A total of 1024 newborns with congenital anomaly (CA) (13.7%) were identified among the 7450 hospitalized newborns in NICU. The most affected system was the cardiovascular system (68.8%). Most of the anomalies (67.1%) were single anomalies. Of all, 59.4% had single major, 7.7% had single minor, 9% had single major plus single minor, 18.4% had multiple major and 2% had multiple minor anomalies. On the other hand, 96.3, 1.9, 0.1 and 1.7% of the newborns had malformation, deformation, disruption and dysplasia, respectively. Chromosomal analysis was only performed 24.8% of the newborns with CA and among them, 65.3% of these were in normal limits. The most frequently detected chromosomal abnormality was trisomy 21. Overall, mortality rate was 15.5% among the newborns with CA., Conclusion: In conclusion, the most common and mortal CA was cardio-vascular malformations in our hospital. The overall prevalence of cardio-vascular malformations among the newborn was higher than previously reported studies in Turkey. Further, studies with larger sample size are needed to determine CA in Turkey.

Introduction: This study describes the prevalence of congenital anomalies and changes over time in birth outcome, mortality and chronic maternal diseases., Material and Methods: This study was based on population data from the EUROCAT registry covering the Funen County, Denmark, 1995-2008. The registry covers live births, foetal deaths with a gestational age (GA) of 20 weeks or more, and terminations of pregnancy due to congenital anomalies (TOPFA)., Results: The overall prevalence of congenital anomalies was 2.70% (95% confidence interval: 2.58-2.80). The majority of cases had an isolated congenital anomaly, 13.9% had a chromosomal anomaly and 7.7% were multiple congenital anomalies. The combined foetal and infant mortality in the study area was 11.6 per 1,000 births. 19% (2.2 per 1,000) of these deaths were foetuses and infants with major congenital anomalies. Combined foetal and infant mortality decreased significantly over time for cases with major congenital anomalies (p < 0.001), whereas the number and proportion of TOPFA increased. Median GA at TOPFA decreased from 18 to 15 weeks. Among the congenital anomaly cases, 8% had a registration of one of these chronic maternal diseases: diabetes, epilepsy, mental disorder, thyroid disease, asthma, or inflammatory bowel disease. Medication for these conditions accounted for 46% of maternal drug use., Conclusion: Maternal morbidity and use of potentially teratogenic medication have increased among congenital anomaly cases. Foetal and infant mortality for congenital anomaly cases have decreased significantly, probably owing to an increase in early prenatal diagnosis and TOPFA., Funding: The study was funded by Region of South Denmark., Trial Registration: not relevant.

Background: Unilateral pulmonary agenesis or aplasia (UPA), a rare developmental defect of the lung, is sometimes associated with congenital heart and tracheal diseases. The purpose of this study was to assess our experience of pediatric cardiothoracic surgery in UPA patients., Methods: Cardiothoracic surgery for congenital heart defect or tracheal stenosis performed between 1981 and 2010 in 8 UPA patients (agenesis in 5 and aplasia in 3) was reviewed retrospectively. Associated cardiac anomalies included ventricular septal defect, double outlet right ventricle with pulmonary atresia, total anomalous pulmonary venous connection, and interrupted aortic arch complex., Results: For 7 patients with right UPA and 1 patient with left UPA, 12 cardiothoracic operations were performed, including 8 cardiac procedures in 4 patients and 4 tracheal procedures in 4 patients. Cardiac palliative repairs included Blalock-Park anastomosis, systemic-to-pulmonary artery shunt, and pulmonary artery banding. Cardiac definitive repairs included ventricular septal defect closure, subaortic membrane resection, modified Konno procedure, total anomalous pulmonary venous connection repair, and Rastelli-type operation. Tracheal repairs were costal cartilage tracheoplasty and slide tracheoplasty. The median age at surgery was 8 months and median body weight was 6.2 kg; the median operative time was 6.5 hours. There were 3 hospital deaths and 1 late death, with the 1-year mortality rate of 25%. Cardiopulmonary bypass-induced acute lung injury has occurred in 3 cases, 2 of which required extracorporeal membrane oxygenation support. Younger age of less than 1 month and prolonged cardiopulmonary bypass time of more than 200 minutes were related to operative risk factors for hospital mortality and morbidity., Conclusions: Most of the pediatric cardiothoracic operations in UPA patients were successfully performed through an optimal surgical approach and procedure, but they still presented surgical risks of high mortality and morbidity. Perioperative management of UPA patients should be provided with a precise understanding of anatomic configuration and a careful consideration of underlying risk factors., (Copyright © 2014 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.)

Background: Absent pulmonary valve syndrome is associated with aneurysmal dilatation of the pulmonary arteries and compression of the tracheobronchial tree and may lead to significant respiratory compromise. We describe the outcomes of surgical correction of absent pulmonary valve syndrome and risk factors for mortality and reoperation., Methods: A review of 52 patients with absent pulmonary valve syndrome who underwent surgical correction between 1975 and 2013 was conducted. The median age and weight at repair were 9 months (range, 4 days to 24.2 years) and 6.9 kg (range, 1.8 to 56 kg). Preoperative intubation was required in 15 patients (29%), and 21 patients (40%) underwent urgent repair. The pulmonary valve was replaced with a valved conduit in 16 patients (31%) or monocusp valve in 16 patients (31%). Valveless repair was performed in 20 patients (38%). Pulmonary artery reduction was performed in 39 patients (75%), and 2 patients (4%) underwent a Lecompte maneuver., Results: The median follow-up time was 13 years (range, 1 month to 35 years). Early mortality was 18.8% (3 of 16) during 1975 through 1989, 19% (4 of 21) during 1990 through 2000, and 0% (0 of 15) during 2001 through 2013. Late mortality was 6.7% (3 of 45). Overall survival at 5, 10, and 20 years was 81.4%±5.6%. On multivariate analysis, preoperative ventilation (p=0.009) was the only risk factor for overall mortality. Freedom from late reoperation at 5, 10, and 20 years was 79.7%±6.9%, 69.4%±8.2%, and 52.1%±9.8%, respectively. No difference in reoperation rates was found between valved conduit, monocusp, or valveless techniques. Risk factors for late reoperation on multivariate analysis were prematurity (p=0.001) and neonatal primary repair (p=0.007). Longer postoperative ventilation periods were predicted by preoperative ventilation (p<0.001) and surgery during infancy (p=0.01)., Conclusions: Long-term survival for absent pulmonary valve syndrome has improved during the last decade. Preoperative ventilation predicted longer postoperative ventilation and mortality., (Copyright © 2014 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.)

Introduction: The aim of this article is to identify the ideal type and location of colostomy in children with colorectal disease., Patients and Methods: A retrospective case study of children with an anorectal malformation who received a colostomy, born between January 1990 and July 2012. Furthermore, a systematic literature search on colostomies in neonates with an anorectal malformation or Hirschsprung disease. Colostomies were classified as loop or split colostomies in the transverse or sigmoid colon. Outcome measures were mortality and complications such as prolapse, technical difficulties with the reconstruction, urinary tract infections, and others., Results: The mortality rate in the 180 children with anorectal malformation was 6%, and none of them were directly related to stoma formation or closure. The overall complication rate was 23% and the specific rates for the two types of procedures and the two locations of the colostomy did not differ (p = 0.389 and p = 0.667, respectively). All prolapses (n = 22) occurred in loop colostomies in the transverse colon. One colostomy required revision because of insufficient length for the reconstruction. Urinary tract infections were not documented. A total of eight studies were included in the systematic review (1982-2011; 2,954 patients). Mortality ranged between 0.1 and 11%. Loop colostomies had more complications than split colostomies (63 vs. 45%; p = 0.007), mainly prolapse (18 vs. 6%; p < 0.001). Overall complication rate differed between transverse en sigmoid colostomies (62 vs. 51%, p = 0.006), and prolapse occurred more often in the transverse colon (23 vs. 7%; p < 0.001). Revision because of insufficient length during the reconstruction was needed in 0 to 6%. Two studies reported on urinary tract infections which are as follows: One showed no difference between loop or split colostomies, whereas the other showed frequent episodes of urinary tract infections in 64% of the loop colostomies., Conclusions: The complication to be avoided in transverse colostomies is prolapse and the surgical technique should be modified accordingly. The procedure of split sigmoid colostomy is meticulous, and the risk of insufficient length for the reconstruction remains., (Georg Thieme Verlag KG Stuttgart · New York.)

Background: The T gene (brachyury gene) is the founding member of the T-box family of transcription factors and is vital for the formation and differentiation of the mesoderm and the axial development of all vertebrates., Results: We report here on four patients from three consanguineous families exhibiting sacral agenesis, a persistent notochordal canal and abnormal ossification of the vertebral bodies, and the identification and characterisation of their underlying genetic defect. Given the consanguineous nature and the similarity of the phenotypes between the three families, we performed homozygosity mapping and identified a common 4.1 Mb homozygous region on chromosome 6q27, containing T, brachyury homologue (mouse) or T. Sequencing of T in the affected individuals led to the identification of a homozygous missense mutation, p.H171R, in the highly conserved T-box. The homozygous mutation results in diminished DNA binding, increased cell growth, and interferes with the normal expression of genes involved in ossification, notochord maintenance and axial mesoderm development., Conclusions: We have identified a shared homozygous mutation in three families in T and linked it to a novel syndrome consisting of sacral agenesis, a persistent notochordal canal and abnormal ossification of the vertebral bodies. We suggest that screening for the ossification of the vertebrae is warranted in patients with sacral agenesis to evaluate the possible causal involvement of T.

Background: Transposition of the great arteries with aortopulmonary window is a rare congenital cardiac anomaly. An arterial switch operation with repair of the aortopulmonary window is the preferred operation in this subset. As the tissue between the great arteries is missing, it is considered to be a complex operation. The purpose of this study is to present our experience of a simple yet highly effective surgical technique for the management of this rare complex cardiac defect., Methods: We detail our experience of the surgery of this complex defect in 4 patients. Standard technique of an arterial switch operation with minor modification in excision of branch pulmonary arteries is all that is needed in approaching this complex subset. The moiety of tissue resulting from the absence of an aortopulmonary window was naturally covered by the proximal and distal neo-aortic flap tissue. The operative technique used in the 4 cases and their presentations are detailed in the text., Results: Four patients of ages 28 days, 35 days, 40 days, and 6 months were successfully operated. One patient expired on postoperative day 21. In this case, advanced age of presentation, severe pulmonary artery hypertension, and sepsis possibly caused the death. The remaining 3 patients are off medication now and are being regularly followed up., Conclusions: In our experience early diagnosis and an arterial switch operation have been crucial in getting a favorable outcome in planning of this complex congenital heart disease., (Copyright © 2014 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.)

Raine syndrome is an autosomal recessive disorder caused by mutations in the FAM20C gene that is characterized by generalized osteosclerosis with periosteal new bone formation and distinctive craniofacial dysmorphism. We report on a child who is homozygous for a 487-kb deletion in 7p22.3 that contains FAM20C. Both parents were heterozygous for the deletion. Our patient had the common craniofacial features as well as, uncommon features such as protruding tongue, short stature, and hypoplastic distal phalanges. In addition, he had wormian bones and pyriform aperture stenosis, features that are usually under diagnosed. It is clear that Raine syndrome has a wide range of expression and may not be lethal in the neonatal period. Furthermore, Raine cases due to whole gene deletion do not seem to have a major difference in the phenotype over those caused by various mutations., (© 2013 Wiley Periodicals, Inc.)

Background: Gastroschisis may be complicated by intestinal atresia, necrosis, and/or perforation. In the absence of an urgent indication, intestinal procedures are often delayed to allow for bowel recovery. This practice has not been evaluated., Methods: We queried a prospective Canadian database of all patients with gastroschisis born between 2005 and 2011. Patients with intestinal atresia who underwent an intestinal operation during the first 21 days of life (EARLY GROUP) were compared with those who underwent operations later (LATE GROUP)., Results: Of 629 gastroschisis patients, 78 (12.4%) had intestinal complications; 27 patients (4.3%) had intestinal operations for atresia without necrosis or perforation - 14 EARLY and 13 LATE. Baseline clinical parameters were similar between the two groups. There was a decreased incidence of the following complications in the EARLY group but none reached statistical significance: post-operative bowel obstruction (28.6% vs. 61.5%, p = 0.1); line sepsis (14.3% vs. 30.8 %, p = 0.4); and wound infection (14.3% vs. 46.1%, p = 0.1). Earlier tolerance of enteral feeding in the EARLY group was manifested by younger age at first enteral feeding (14.8 + 2.6 vs. 44.7 + 7.4 days, p = 0.002) and higher tolerance of enteral feeding at 28 days of life [less patients exclusively on TPN (28.6% vs. 61.5%, p = 0.06), and more patients on more than 50 cc kg(-1)day(-1) of enteral feeding (42.9% vs. 7.7%, p = 0.08)]., Conclusions: Early intestinal operations in patients with gastroschisis and intestinal atresia are not associated with increased complications, and allow patients to receive and tolerate enteral feeding earlier., (Copyright © 2013 Elsevier Inc. All rights reserved.)

Congenital malformations are a known cause of intrauterine death; of them, congenital heart diseases (CHDs) are accountable for the highest fetal and neonatal mortality rates. They are strongly associated with other extracardiac malformations and an early fetal mortality. Two hundred and twenty fves cases of CHDs are presented. Of them, 155 were isolated CHDs (group A) and 70 were associated with extracardiac malformations, chromosomal disorders, or genetic syndromes (group B). The overall mortality in group B was higher than that observed in group A (p <0.01). Prenatal mortality was similar in both groups: A: 8.4% (13 out of 155); B: 15.7% (11 out of 70). Postnatal mortality was A: 16.8% (26 out of 155) (p <0.01), OR: 0.52 (95% CI: 0.16-1.7); B: 32.9% (23 out of 70) (p <0.01), OR: 0.41 (95% CI: 0.20-0.83). Heart diseases associated with extracardiac abnormalities had a higher mortality rate than isolated congenital heart diseases in the period up to 60 weeks of postmenstrual age (140 days post-term). No differences were observed between both groups of patients in terms of prenatal mortality.

We studied 20 cases with fibrochondrogenesis (FCG) diagnosed prenatally. Four cases were diagnosed at our fetal unit, and 16 cases were identified through a review of literature (in English). The prenatal diagnosis of FCG was made in 4/20 (20%). Six (30%) patients opted for termination of pregnancy (TOP). A total of 13 cases delivered at term. Four (30.8%) had a caesarean section. Four neonates (30.7%) were stillborn and seven (53.8%) neonates died within 3 months. Two infants survived beyond 3 years of age, but both had severe global developmental delay. A molecular study of the surviving children revealed two null homozygous mutations in COL11A1 [c.4084C > T (p.R1362X) and c.3708 + c.437T > G]. We concluded that the prenatal diagnosis of fibrochondrogenesis is feasible. Fibrochondrogenesis is usually a fatal disease and survivors suffer from severe physical and neurological impairment.

We conducted a questionnaire-based study in collaboration with a Japanese trisomy 18 parental support group. Sixty-five children (female, 68%) with full trisomy 18 were evaluated. Diagnosis was made prenatally in 17% (11/65) and 57% (37/65) were born following a cesarean. The mean gestational age at delivery was 38 weeks and 6 days, and the mean birth weight was 1,920 g (-2.6SD). A total of 51% (24/47) of children had apneic episodes. Thirteen children experienced generalized seizures, and a minority was seizure-free with medication. Parents of 36% (18/50) of children were offered intensive treatment. A total of 45% (27/60) of children received intermittent mandatory ventilation, which was weaned off in half of them. Nine had surgeries, including esophageal atresia/omphalocele correction, cardiac surgery, and tracheostomy. A total of 15% (8/55) were fed fully orally, and 45% (29/64) were discharged home. Slow but constant psychomotor development was observed, and in four long-term survivors over 10 years, two walked unassisted. Factors significantly associated with survival over 1 year included diagnosis after birth, absence of prematurity, heavier birth weight, absence of esophageal atresia, extubation, ability to feed orally without medical assistance, and home discharge. Parents appeared to be positive about caring for their children, and the children seemed to interact with parents and siblings as long as they lived, resulting in quality family time. The family point of view, as well as knowledge of natural history, should be considered when policy statements about the care of children with trisomy 18 are made., (Copyright © 2013 Wiley Periodicals, Inc.)

Introduction: Gastroschisis is one of the most common birth defects of the anterior abdominal wall, in recent decades being witnessed a significant increase in the survival of children with such a condition. This study aims to discover the causes of the increased perinatal morbidity and mortality rates from gastroschisis in our country., Methods: Retrospective study on 54 infants with gastroschisis. Patient data were statistically processed and the demographic characteristics, antenatal diagnosis, presence of associated anomalies, method of surgical treatment, postoperative complications, number of hospital stay days and survival rate were analysed., Results: Most demographic data and associated malformation rate in the study patients are in agreement with the data in the literature, except for prenatal diagnosis rate (16.7% vs 68- 88%), rapid hospital arrival and surgery (6.8 vs 4.3 hours), and the worst, the high rate of infections (68.5%) and hence mortality rate (63% vs. 6-7%)., Conclusions: Although the therapeutic approach in our clinic complies with the international trend, the mortality rate is still very high, its main cause in the study group proving to be prolonged sepsis and multiple organ failure, probably favored by the low rate of antenatal diagnosis leading to delay in the appropriate surgical management., (Celsius.)

Objective: To evaluate the effect of early fetoscopic tracheal occlusion (FETO) (22-24 weeks' gestation) on pulmonary response and neonatal survival in cases of extremely severe isolated congenital diaphragmatic hernia (CDH)., Methods: This was a multicenter study involving fetuses with extremely severe CDH (lung-to-head ratio < 0.70, liver herniation into the thoracic cavity and no other detectable anomalies). Between August 2010 and December 2011, eight fetuses underwent early FETO. Data were compared with nine fetuses that underwent standard FETO and 10 without fetoscopic procedure from January 2006 to July 2010. FETO was performed under maternal epidural anesthesia, supplemented with fetal intramuscular anesthesia. Fetal lung size and vascularity were evaluated by ultrasound before and every 2 weeks after FETO. Postnatal therapy was equivalent for both treated fetuses and controls. Primary outcome was infant survival to 180 days and secondary outcome was fetal pulmonary response., Results: Maternal and fetal demographic characteristics and obstetric complications were similar in the three groups (P > 0.05). Infant survival rate was significantly higher in the early FETO group (62.5%) compared with the standard group (11.1%) and with controls (0%) (P < 0.01). Early FETO resulted in a significant improvement in fetal lung size and pulmonary vascularity when compared with standard FETO (P < 0.01)., Conclusions: Early FETO may improve infant survival by further increases of lung size and pulmonary vascularity in cases with extremely severe pulmonary hypoplasia in isolated CDH. This study supports formal testing of the hypothesis with a randomized controlled trial., (Copyright © 2013 ISUOG. Published by John Wiley & Sons, Ltd.)

During end stage renal disease (ESRD) inflammatory pathways are activated which may lead to malnutrition inflammation syndrome (MIS). In the present study, 257 ESRD patients and 200 controls were included. Cytokine levels and genotyping was done by polymerase chain reaction-restriction fragment length polymorphism and enzyme-linked immunosorbent assay (ELISA). Risk was estimated through binary logistic regression. Cox proportional hazards regression and Kaplan-Meier were used for survival analysis. Tumor necrosis factor TNF-α-308 AA conferred 3.6-fold higher susceptibility (P=0.001) and higher TNF-α levels (P=0.05). TNF-α-238 AA was associated with 3.3-fold higher susceptibility to ESRD (P=0.002). IL-6-174 CC genotype conferred 3-fold risk to disease (P=0.001) along with higher IL-6 levels (P=0.001). IL-10-1082 GG genotype exhibited 2.2-fold higher susceptibility to disease (P=0.013). IL-10-592 AA/-819 TT genotypes were associated with high C reactive protein (P=0.02) and low IL-10 (P=0.03) levels. TNF-α-308 A allele was significantly associated with 2.3-fold higher risk of malnutrition. TNF-α-GAC, AGC and IL-6-CC were risk haplotypes associated with higher disease susceptibility. Combined analysis revealed 1.6-fold higher susceptibility to disease (P=0.02), there was 2-fold higher susceptibility to malnutrition (P=0.02) in high inflammation group. TNF-α-238 AA genotype was associated with 2.5-fold higher death hazard risk (P=0.02). Our study suggests that TNF-α and its genetic variants are major contributors to susceptibility to MIS in ESRD patients.

Background: The long-term outcome of modified Fontan operation concomitant with a valve operation for atrioventricular valve (AVV) regurgitation is not well described., Methods: Between 1977 and 2003, 500 children who underwent modified Fontan operation were subdivided into 192 with AVV plasty (group P) and 308 without AVV plasty (group N). Factors associated with patient outcome were investigated retrospectively., Results: Surgical techniques to correct valve incompetence included circular annuloplasty, partial annuloplasty with Kaye-Reed methods, edge-to-edge repair methods, and valvoplasty, which were combined according to the etiology of the valve lesion. The estimated actuarial survival rates at 10 and 20 years were, respectively, 82.0% and 76.6% in group P (p < 0.05) and 90.8% and 86.8% in group N (p = 0.001). The estimated actuarial survival rates at 10 years among patients with AVV plasty did not show a statistically significant difference (circular annuloplasty, 79.0%; partial annuloplasty, 81.6%; edge-to-edge, 83.3%; valvoplasty, 82.6%; p = 0.90). A Cox regression model revealed that a higher preoperative ventricular ejection fraction was associated with a significant reduction in long-term mortality in group P (hazard ratio, 0.921; 95% confidence interval, 0.873 to 0.972; p < 0.05). Each repair method showed acceptable durability at medium-term follow-up, without progression of lesions., Conclusions: Given worse results with poor ventricular function, early intervention against valve pathology before development of ventricular failure may improve long-term outcomes. Multiple methods are appropriate for a variety of valve lesions; however, circular annuloplasty remains a reliable repair option due to its technical simplicity., (Copyright © 2013 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.)

Kenny-Caffey syndrome (KCS) and the similar but more severe osteocraniostenosis (OCS) are genetic conditions characterized by impaired skeletal development with small and dense bones, short stature, and primary hypoparathyroidism with hypocalcemia. We studied five individuals with KCS and five with OCS and found that all of them had heterozygous mutations in FAM111A. One mutation was identified in four unrelated individuals with KCS, and another one was identified in two unrelated individuals with OCS; all occurred de novo. Thus, OCS and KCS are allelic disorders of different severity. FAM111A codes for a 611 amino acid protein with homology to trypsin-like peptidases. Although FAM111A has been found to bind to the large T-antigen of SV40 and restrict viral replication, its native function is unknown. Molecular modeling of FAM111A shows that residues affected by KCS and OCS mutations do not map close to the active site but are clustered on a segment of the protein and are at, or close to, its outer surface, suggesting that the pathogenesis involves the interaction with as yet unidentified partner proteins rather than impaired catalysis. FAM111A appears to be crucial to a pathway that governs parathyroid hormone production, calcium homeostasis, and skeletal development and growth., (Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.)

Purpose: The aim of our study was to elucidate if the defect size reflects the magnitude of the developmental defect in patients with CDH., Methods: All patients recorded in the CDH Study Group registry between January 1, 2007, and December 31, 2010, and with defect classification were included in the study. They were divided according to defect size (A-D) and compared for: gestational age (GA), birth weight (BW), number of abnormal organ systems, prevalence of associated anomalies, cardiovascular malformations (CVM), chromosomal anomalies, liver in the chest, and hernia sac., Results: A total of 1350 of 1778 patients had defect classification: 173 A, 557 B, 438 C, and 182 D. Mortality rate was 0.6%, 5.3%, 22.6%, and 45.6% in group A, B, C, and D, respectively, (p<0.0001; p for trend <0.0001). GA, BW, prevalence of associated anomalies, particularly CVM, number of abnormal organ systems, and prevalence of sac were significantly different between the groups, with a significant reduction of GA, BW, and prevalence of sac. There was an increase in prevalence of associated anomalies, liver in the chest, and number of abnormal systems as the defect size increased., Conclusion: Defect size is directly correlated with mortality rate, prevalence of other anomalies (particularly CVM), and number of abnormal systems, and inversely with GA, BW, and prevalence of hernia sac. The defect size may be a marker for the magnitude of developmental abnormality, thereby explaining its relationship with the outcome., (Copyright © 2013 Elsevier Inc. All rights reserved.)

Trisomy 13 or Patau syndrome (PS) is a chromosomal disorder characterized by a well known presentation of multiple congenital anomalies. Our objective was to determine the clinical features and prognosis observed in a sample of patients with PS. The series was composed of patients with diagnosis of PS consecutively evaluated by a Clinical Genetics Service from a reference hospital of southern Brazil, in the period between 1975 and 2012. Statistical analysis was performed using PEPI program (version 4.0), with two-tailed Fisher's exact test for comparison of frequencies (P<0.05). The sample consisted of 30 patients, 60% male, median age at first evaluation of 9 days. Full trisomy of chromosome 13 was the main cytogenetic alteration (73%). The major clinical findings included: cryptorchidism (78%), abnormal auricles (77%), congenital heart defects (76%), polydactyly (63%), microphthalmia (60%) and micrognathia (50%). Four patients (13%) simultaneously had micro/anophthalmia, oral clefts and polydactyly. Some findings were only observed in our sample and included, among others, preauricular tags (10%), duplication of the hallux (3%) and spots following the lines of Blaschko (3%). Mosaicism (20% of cases) had a statistically significant association only with absence of cryptorchidism. The median of survival was 26 days. Patients with and without mosaicism had similar median of survival. Our findings, in agreement with the literature, show that the anomalies in patients with PS can be quite variable, sometimes even atypical. There is no pathognomonic finding, which may make the early identification of these patients challenging., (Copyright © 2013 Wiley Periodicals, Inc.)

Background: For neonates with atrioventricular septal defect and aortic arch obstruction including coarctation of the aorta, we sought to determine whether a difference in outcomes exists after a primary neonatal versus staged surgical repair (neonatal arch repair with delayed intracardiac repair)., Methods: This retrospective cohort study included consecutive neonates with atrioventricular septal defect and aortic arch obstruction who underwent cardiac surgery before 28 days of age at six centers from 1990 to 2009. Characteristics and outcomes between patients undergoing neonatal versus staged repair were compared., Results: Of 66 study patients, 31 (47%) underwent primary neonatal repair and 35 (53%) underwent staged repair. At baseline echocardiogram, a greater percentage of neonatal repair patients had relative unbalanced ventricular size (56% versus 35%, p = 0.02). There were no other differences in demographic characteristics, cardiac anatomical or functional details, or surgical technique. Those undergoing neonatal repair tended to be more likely to have at least moderate left atrioventricular valve regurgitation early after repair (42% versus 19%, p = 0.05) and to have at least one major in-hospital complication (42% versus 20%, p = 0.06). After the initial cardiac operation, compared with the neonatal repair group, patients undergoing staged repair had greater survival (87% versus 57% at 6 years, log-rank p = 0.02) and freedom from the first unplanned cardiac reoperation (69% versus 45% at 6 years, log-rank p = 0.005)., Conclusions: For neonates with atrioventricular septal defect and aortic arch obstruction, when compared with neonatal repair, a staged approach was associated with improved survival and lower morbidity., (Copyright © 2013 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.)

Purpose: A major determinant of survival in patients with congenital diaphragmatic hernia (CDH) is severity of pulmonary hypoplasia. This study addresses the comparative effectiveness of prenatal methods of lung assessment in predicting mortality, extracorporeal membrane oxygenation (ECMO), and ventilator dependency., Methods: We retrospectively reviewed all patients born with isolated CDH between 2004 and 2008. Lung-to-head ratio (LHR) and observed-to-expected LHR (OELHR) were obtained from prenatal ultrasounds. Percent-predicted lung volume (PPLV) was obtained from fetal MRI (fMRI). Postnatal data included in-hospital mortality, need for ECMO, and ventilator dependency at day-of-life 30., Results: Thirty-seven patients underwent 81 prenatal ultrasounds, while 26 of this sub-cohort underwent fMRI. Gestational age during imaging study was associated with LHR (p=0.02), but not OELHR (p=0.12) or PPLV (p=0.72). PPLV, min-LHR, and min-OELHR were each associated with mortality (p=0.03, p=0.02, p=0.01), ECMO (p<0.01, p<0.01, p=0.03), and ventilator dependency (p<0.01, p<0.01, p=0.02). For each outcome, PPLV was a more discriminative measure, based on Akaike's information criterion. Using longitudinal analysis techniques for patients with multiple ultrasounds, OELHR remained associated with mortality (p=0.04), ECMO (p=0.03), and ventilator dependency (p=0.02), while LHR was associated with ECMO (p=0.01) and ventilator dependency (p=0.02) but not mortality (p=0.06)., Conclusion: When assessing fetuses with CDH, OELHR and PPLV may be most helpful for counseling regarding postnatal outcomes., (Copyright © 2013 Elsevier Inc. All rights reserved.)

Background: Tetralogy of Fallot, or double-outlet right ventricle with atrioventricular (AV) septal defect (TOF/DORV-AVSD), is rare, with limited long-term data available. We report our institutional experience and outcome over a 50-year period., Methods: From January 1961 to January 2011, 73 patients (50 males [68%]), with a mean age of 6.8 ± 4.4 years (range, 1 month to 35 years), underwent surgical repair of TOF/DORV-AVSD. Symptoms included cyanosis in 50 (69%) and heart failure in 12 (17%). Down syndrome was present in 25 (34%). Rastelli type A, B, and C was seen in 12%, 7%, and 81% of patients, respectively. Moderate or more common AV valve (AVV) regurgitation was present in 40%. Forty-nine patients (67%) had previous palliation, including 36 with a systemic-to-pulmonary arterial shunt., Results: Surgical management included two-ventricle complete repair (CR) in 35 (48%) and single-ventricle (SV) palliation in 38 (52%). Overall, early mortality was 31% for CR and 34% for SV; after 1990, mortality was 6% for CR and 14% for SV. Repair before 1990 (p = 0.008) and the presence of significant common AVV regurgitation (p = 0.016) were univariate risk factors for early death in both groups. Median follow-up was 9.8 years (maximum, 32 years). Late mortality rate was 12% in CR (n = 6) and 18% (n = 9) in SV (p = 0.95). The presence of significant right AVV regurgitation was associated with late death (p = 0.02). Overall survival at 1, 5, and 15 years was 92%, 77%, and 77% in CR, and 83%, 79%, 70% in SV (p = 0.9). Freedom from reoperation at 1, 5, and 15 years was 95%, 85%, 67% in CR and 96%, 91%, 82% in SV (p = 0.1). Reoperations were most common for right ventricular outflow tract pathology, Fontan revision, and AVV intervention. Right AVV regurgitation (p = 0.018) and repair before 1990 (p = 0.041) were risk factors for late reoperation in both groups., Conclusions: Complete repair of TOF/DORV-AVSD is standard of care and associated with low early mortality rate in the current era, with reasonable long-term outcome. SV palliation continues to have significant risk. The presence of AVV regurgitation is a significant risk factor for death and reoperation., (Copyright © 2013 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.)

Objectives: The purpose of this study was to assess the postnatal outcome and complications that arise in infants with the prenatal diagnosis of gastroschisis., Methods: Prenatal sonograms with the diagnosis of gastroschisis were identified. Maternal age, indication for sonography, gestational age at diagnosis, other sonographic abnormalities, and postnatal outcome were recorded., Results: Ninety-eight fetuses at 14.3 to 36 weeks' gestation had the diagnosis of gastroschisis on sonography. In 14 cases (14%), other fetal anomalies were identified, including hydronephrosis, hydrocephalus, coarctation of the aorta, and a limb anomaly. Bowel dilatation developed in 72 of 84 cases (86%) followed prenatally with sonography, and bowel wall thickening developed in 40 of 73 cases (55%). On postnatal follow-up, 57 of 68 infants (84%) had postnatal complications, many with multisystem complications, including 6 deaths, 40 with bowel-related complications, 30 with infectious complications, and 32 with anomalies involving other systems (genitourinary, cardiac, and central nervous system). The postnatal outcome did not correlate with the presence of bowel dilatation or bowel wall thickening on prenatal sonography. Only 11 infants (16.2%) had a completely uncomplicated postsurgical course. Hospital stays in survivors (n = 92) ranged from 8 to 307 days (mean, 53 days)., Conclusions: Although reported survival rates are good for gastroschisis, the postoperative hospital stay is often lengthy, and complications are very common, especially those related to the gastrointestinal tract. Associated anomalies were more common in our study than previously reported.

Pulmonary artery sling frequently accompanies various degrees of tracheal stenosis. The authors reviewed their surgical outcomes for pulmonary artery sling from two institutions. From 1997 to September 2011, 16 patients with pulmonary artery sling underwent surgical treatment. Their median age was 4.6 months and their body weight 6.2 kg at the time of the operation. Of the 16 patients, 12 showed preoperative respiratory symptoms such as recurrent airway infection or dyspnea, with three of these patients receiving ventilator therapy preoperatively. Most of the patients showed various degrees of tracheal luminal stenosis and stenotic length, except for three patients who did not show significant airway stenosis. Left pulmonary artery reimplantation was performed for all the patients, but an accompanying tracheoplasty was performed for only two patients (one patch augmentation and one sliding tracheoplasty). After surgery, early extubation and intensive lung care were performed. Two operative mortalities occurred: one due to cardiac tamponade associated with postoperative bleeding and one due to aggravation of preexisting multiorgan failure. Two late mortalities occurred: one due to airway obstruction by repetitive granulation tissue growing at the tracheoplasty site and one due to pneumonia. The 12 living patients, including 11 patients who did not undergo tracheal surgery, showed no clinically significant airway problems at their last follow-up visit. The surgical outcomes for pulmonary artery sling without tracheoplasty were acceptable. The authors think tracheoplasty may be avoided by intensive postoperative airway management for a significant portion of the patients with pulmonary artery sling and tracheal stenosis.

The combination of congenital diaphragmatic hernia (CDH) and omphalocele is quite rare but can be seen in several syndromes. We report on a female newborn with this combination that had not been diagnosed prenatally. The patient suffered respiratory failure that persisted despite intensive care support, suggesting severe secondary pulmonary hypoplasia. Autopsy revealed the combination of an anterolateral CDH and omphalocele in the absence of other anomalies. We believe this to be the first such case to be reported in the literature., (Copyright © 2013 Wiley Periodicals, Inc.)

Congenital disorders of glycosylation (CDG) are a rapidly growing family of inborn errors. Screening for CDG in suspected cases is usually performed in the first year of life by serum transferrin isoelectric focusing or mass spectrometry. Based on the transferrin analysis patients can be biochemically diagnosed with a type 1 or type 2 transferrin pattern, and labeled as CDG-I, or CDG-II. The diagnosis of CDG is frequently delayed due to the highly variable phenotype, some cases showing single organ involvement and others mimicking syndromes, like skeletal dysplasia, cutis laxa syndrome, or congenital muscle dystrophy. The aim of our study was to evaluate perinatal abnormalities and early discriminative symptoms in 58 patients consecutively diagnosed with diverse CDG-subtypes. Neonatal findings and clinical features in the first months of life were studied in 36 children with CDG-I and 22 with CDG-II. Maternal complications were found in five, small for gestational age in nine patients. Five children had abnormal neonatal screening results for hypothyroidism. Congenital microcephaly and neonatal seizures were common in CDG-II. Inverted nipples were uncommon with 5 out of 58 children. Dysmorphic features were mostly nonspecific, except for cutis laxa. Early complications included feeding problems, cardiomyopathy, thrombosis, and bleeding. Cases presenting in the neonatal period had the highest mortality rate. Survival in CDG patients is highly dependent on early intervention therapy. We recommend low threshold screening for glycosylation disorders in infants with neurologic symptoms, even in the absence of abnormal fat distribution. Growth retardation and neonatal bleeding increase suspicion for CDG., (Copyright © 2013 Wiley Periodicals, Inc.)

Upper-limb defects with deficiencies of the radial ray have varying etiologies, with a low proportion of true Mendelian disorders. We carried out a population-based study to elucidate the birth prevalence and clinical spectrum of radial ray deficiencies in Finland. We identified all births with radial ray deficiency reported to the Finnish Register of Congenital Malformations in 1993-2005. Altogether 138 cases were identified (123 live births), with a birth prevalence of 1.83 per 10,000 births and a live birth prevalence of 1.64 per 10,000 live births. The proportion of infant deaths was as high as 35%. The majority of the cases were associated with known syndromes or multiple anomalies; only 13% were true isolated radial ray deficiencies. The most common syndrome was trisomy 18, and the most common in multiple anomalies was VACTERL association. In 8.7% of cases an association between radial ray deficiency and heart anomaly was observed. The high proportion of cases with associated major anomalies indicates that radial ray deficiency can be regarded isolated only after thorough assessment of the various organ systems in an affected infant., (Copyright © 2013 Wiley Periodicals, Inc.)

Background and Aim: We investigated the clinical outcome of early initiated peritoneal dialysis (PD) use in our newborn patients who underwent arterial switch operation (ASO) for transposition of the great arteries (TGA) and had routine intraoperative PD catheter implantation. We determined the risk factors for PD, factors associated with prolonged PD, morbidity, and mortality. The aim of the present study was to describe our experience of using PD in this patient cohort., Materials and Methods: Eighty two patients who were diagnosed with TGA and TGA-ventricular septal defect (VSD) and who had undergone TGA correction operation in Başkent University, Istanbul Medical Research and Training Hospital between 2007 and 2012 were retrospectively investigated. All the patients were under 30 days old. PD catheters were routinely implanted intraoperatively at the end of the operation. PD was initiated in transient renal insufficiency. In the absence of oliguria and increased creatinine level, PD was established in the presence of one of the following: clinical signs of fluid overload, hyperkalemia (>5 mEq/L), persistent metabolic acidosis, lactate level above 8 mmol/L or low cardiac output syndrome. The patients were divided into two groups according to the need for postoperative PD (PD group and non-PD group). PD was initiated in 32 (39%) patients after the operation, whereas 50 (61%) patients did not need dialysis. The clinical outcomes and perioperative data of the two groups were compared., Results: The demographics in the two groups were similar. Cardiopulmonary bypass time was longer in the PD group [non-PD group, 175.24 ± 32.39 min; PD group, 196.22 ± 44.04 min (p < 0.05)]. Coronary anomaly was found to be higher in the PD group [non-PD group, n = 2 patients (4.0%); PD group, n = 7 patients (21.9%); p < 0.05]. There was more need for PD in TGA + VSD patients [simple TGA patients, n = 14; TGA + VSD patients, n = 18 (p < 0.05)]. PD rate was higher in patients whose sterna were left open at the end of the operation (p < 0.05). The ventilator time [non-PD group, 4.04 ± 1.51 days; PD group, 8.12 ± 5.21 days (p < 0.01)], intensive care unit stay time [non-PD group, 7.98 ± 5.80 days; PD group, 15.93 ± 18.31 days (p < 0.01)], and hospital stay time were significantly longer in the PD group [non-PD group, 14.98 ± 10.14 days; PD group, 22.84 ± 20.87 days (p < 0.01)]., Conclusion: We advocate routine implantation of PD catheters to patients with TGA-VSD, coronary artery anomaly, and open sternum in which we have determined high rate of postoperative PD need.

Perinatal and infant mortality in the Arkhangelsk Region tends to decline. At the same time, the structure of perinatal mortality shows a significant increase in the proportion of congenital defects, among which multiple forms constitute a major portion. The most common causes of infant death are acute respiratory infections, congenital malformations, and sudden infant death syndrome.

Background: Congenital diaphragmatic hernia (CDH) and esophageal atresia (EA) are fairly common congenital anomalies, but the occurrence of both is exceedingly rare, with only anecdotal cases reported in the English literature. The primary objective of the current study is to assess the incidence and outcomes of CDH/EA using the Congenital Diaphragmatic Hernia Study Group registry., Study Design: The Congenital Diaphragmatic Hernia Study Group registry was queried from January 2000 through August 2011. Patients with CDH/EA were identified. The primary end point was survival and the secondary end point was seeking to identify variables that might explain variances in outcomes., Results: During the study period, 4,888 patients were reported to the Congenital Diaphragmatic Hernia Study Group registry. Twenty-three (0.5%) had an associated EA, with an overall survival significantly lower than the registry mean (26.1% vs 70.3%; p < 0.001). These patients had significantly lower birth weights (1.8 vs 2.94 kg), more cardiac abnormalities, and more chromosomal abnormalities (p < 0.001). Only 6 of the 23 CDH/EA patients had a CDH repair. In addition, the cohort had significantly fewer primary CDH repairs (4.3% vs 39.3%; p < 0.001). Logistic regression analysis identified birth weight, cardiac abnormalities, repair, and surfactant administration to be significantly associated with adverse outcomes. Esophageal atresia was the only variable not independently associated with survival., Conclusions: In patients with both CDH and EA, survival is significantly lower than other patients with CDH, but not uniformly lethal, therefore, intent to treat is a viable approach. Although the association of CDH with EA has a substantial impact on survival, it is the presence of low birth weight, cardiac and chromosomal abnormalities, surfactant use, and larger defects--and not the mere presence of EA--that influences the outcomes of this unique cohort., (Copyright © 2013 American College of Surgeons. Published by Elsevier Inc. All rights reserved.)

Objective: To evaluate the impact of associated heart defects on outcomes to discharge, and identify factors affecting survival of all infants born with congenital diaphragmatic hernia (CDH) in last decade using Congenital Diaphragmatic Hernia Study Group data., Study Design: This was a retrospective review of all infants with CDH enrolled in Congenital Diaphragmatic Hernia Study Group database from January 2000 to December 2010. The study cohort was divided into 3 groups (GRP): GRP 1, CDH with major heart defects; GRP 2, CDH with minor heart defects; and GRP 3, CDH with no reported heart defects., Results: The 4268 enrolled infants included 345 (8%) in GRP 1, 412 (10%) in GRP 2, and 3511 (82%) in GRP 3. Survival was significantly lower in GRP 1 compared with GRP 2 and GRP 3 (36% vs 73%). In GRP 1, the most common defects were left heart obstructive lesions (34%). Survival was lowest in infants with transposition of great arteries (0%) and single ventricle physiology (16%). There was no change in survival rate for any group between 2000-2005 and 2006-2010. In GRP 1, factors that predicted lower survival were birth weight <2.5 kg, associated noncardiac anomalies, single ventricle physiology, no sildenafil therapy, no CDH repair, and no cardiac repair., Conclusion: Survival is significantly lower in patients with CDH and major heart defects compared with patients with minor or no heart defects. Outcomes of newborns with CDH and major heart defects have not improved over the last decade., (Copyright © 2013 Mosby, Inc. All rights reserved.)

Purpose: Hypoplastic left heart (HLH) is one of the most common forms of cardiac abnormality detectable during gestation by fetal echocardiography. Antenatal diagnosis allows for appropriate counseling and time to consider treatment options. We report the actual outcome data after fetal diagnosis of HLH., Materials and Methods: Retrospective analysis of the outcome in all cases with HLH from 1994 - 2011 presenting in fetal life at two tertiary referral centers for prenatal diagnosis and pediatric cardiology., Results: 105 cases were included and the overall survival is 40.9 % (43/105) after prenatal diagnosis. There was an 81.1 % survival rate in infants undergoing surgery and a 64.1 % survival rate from an intention-to-treat position. Two neonates died due to tamponade and cardiac arrest following balloon septostomy and one neonate from sepsis before surgery. Extracardiac anomalies occurred in three fetuses, and karyotype anomalies in seven fetuses (18.9 %). In 4 of 5 babies born with additional extracradiac or karyotype anomalies, parents opted for compassionate care. The first had trisomy 13, the second had trisomy 18, the third neonate presented with spina bifida, and the fourth presented with hydronephrosis and pulmonary atresia. Termination of pregnancy took place in 17 cases (16.1 %)., Conclusion: Thorough antenatal evaluation should include karyotyping, detailed extracardiac and intracardiac assessment to accurately predict the risks of surgery. Prenatal counseling might be modified after the exclusion of additional anomalies. These data provide up-to-date information for parental counseling., (© Georg Thieme Verlag KG Stuttgart · New York.)

Objectives: The aim of study was to analyse the mid-term results of the Ross-Konno procedure in infants., Methods: Between 2000 and 2011, 16 infants, including five newborns, with complex left ventricular outflow tract (LVOT) obstruction underwent the Ross-Konno procedure. Twelve patients (75%) required multiple concomitant procedures such as: mitral valve (MV) surgery (four patients), resection of endocardial fibroelastosis (EFE) and myectomy (six patients), closure of ventricular septal defect (four patients) and aortic arch reconstruction (three patients). The median age at operation was 4.2 months (from 6 to 333 days)., Results: There was one late death with a median follow-up of 6.2 years. Actuarial survival is 93.3% at 5 years follow-up (95% confidence interval: 61.2-99.0). Postoperatively, two patients required extracorporeal membrane oxygenation support and one MV replacement. The median length of stay in hospital was 30 days (from 11 to 77 days). At 5 years of follow-up, seven patients had no aortic regurgitation (AR) and nine patients (56%) had trivial AR with no gradient in LVOT. Freedom from mitral regurgitation (MR) ≥ moderate or MV replacement was 70%. MR was associated with either structural abnormalities of MV or with development of EFE. Freedom from redo was 81 and 53% at 1 and 5 years of follow-up. Sixty percent of patients are without medication. All patients are in sinus rhythm., Conclusions: With the technical aspects of this procedure well accomplished, the risk of surgery is minimal and functional outcome is encouraging. However, early postoperative morbidity is significant. At the mid-term follow-up, there was no residual or recurrent outflow tract obstruction and excellent function of the neoaortic valve. A high incidence of MR associated with the development of EFE and structural abnormalities of the MV is worrisome; however, concomitant MV surgery is not associated with increased mortality. In the case of the development of EFE, an early indication for operation might protect MV function. The reoperation rate is high due to early conduit failure.

Objectives: We describe our experience of arterial switch operation (ASO) in the first hours of life in children with D-transposition of the great arteries (TGA) intact ventricular septum and restrictive patent foramen ovale (PFO) with severe metabolic disorders. The Rashkind procedure is the usual strategy to stabilize critically ill patient before surgery. We assume that primary ASO is also the safe option., Methods: Between 2008 and 2010, 44 neonates underwent ASO. Of these, eight with simple D-TGA had severe acid-base disorders and form the subject of this report. All were operated on within the first 24 h of life. Median time from birth to admission to the hospital was 4 h 52 min. All patients had prenatal diagnoses. In six cases, childbirths were held in a maternity hospital near the heart surgery centre. In two cases, patients were transported from remote hospitals. All patients received prostaglandin E(l), three of them required ventilator support. All patients had small PFO (1-3 mm), oxygen saturation 60-85%. All had metabolic acidosis (pH ranging 6.96-7.2); lactate was increased in all patients (ranging 5.5-17.0 mmol/l)., Results: All patients underwent primary ASO. We used normothermic cardiopulmonary bypass (CPB). Median CPB time was 143 min, and median ischaemic time was 68 min. All patients had uneventful postoperative periods. There were no in-hospital deaths and no late deaths after hospital discharge., Conclusions: ASO for D-TGA in the first hours of life is a good option for the treatment of critically ill neonates with metabolic disorders. In our experience, there is no need for the Rashkind procedure to stabilize the patient before surgery.

Objective: To estimate the relationship between nuchal translucency thickness and abnormal karyotype, major congenital anomaly, perinatal loss, and composite abnormal outcome in fetuses with first-trimester nuchal cystic hygroma., Methods: We performed a retrospective cohort study of first-trimester fetuses with ultrasound-diagnosed nuchal cystic hygroma collected over a 10-year period., Results: There were 944 first-trimester fetuses with nuchal cystic hygroma. A karyotype abnormality occurred in 54.9% (400 of 729) of fetuses. A major congenital anomaly occurred in 28.8% (61 of 212) of fetuses with a normal karyotype. Perinatal loss occurred in 39% (115 of 295) of fetuses not electively terminated. Overall, an abnormal outcome occurred in 86.6% (543 of 627) of fetuses. After adjusting for potential confounders, every 1-mm increase in nuchal translucency thickness increased the odds of an abnormal karyotype by 44% (adjusted odds ratio [OR] 1.44, 95% confidence interval [CI] 1.29-1.60, P<.001), the odds of major congenital anomaly by 26% (adjusted OR 1.26, 95% CI, 1.08-1.47, P=.003), the odds of perinatal loss by 47% (adjusted OR 1.47, 95% CI 1.07-2.02, P=.019), and the odds of a composite abnormal outcome by 77% (adjusted OR 1.77, 95% CI 1.15-2.74, P=.01)., Conclusion: First-trimester nuchal cystic hygroma is associated with high rates of karyotype abnormality, major congenital anomaly, perinatal loss, and abnormal outcome. As the thickness of the nuchal translucency increases, the odds of abnormal karyotype, major congenital anomaly, perinatal loss, and abnormal outcome increase.

Objectives: The objectives were to determine in patients with Tetralogy of Fallot (ToF) and abnormal coronary artery (ACA): the long-term outcomes of different surgical strategies; the risk factors for right ventricular outflow tract (RVOT) obstruction, reoperation, heart failure and mortality. To date, the surgical strategies and prognostic factors for repair of ToF with an ACA, crossing the RVOT and avoiding a classic repair, have not been evaluated in a large series using a multivariate analysis., Methods: A retrospective study (1986-2011) included 72 patients. The mean follow-up was 9.6 ± 6.8 years. Median age at surgery was 1.5 years (0.2-11.3). The main surgical techniques were 'tailored' right ventriculotomy and patch of the RVOT (63%; n = 45), implantation of a conduit between the right ventricle (RV) and the pulmonary artery (PA; 25%; n = 18) and a transatrial ± transpulmonary approach (11%; n = 8). Univariate and multivariate logistic regression analyses were performed., Results: Intrahospital mortality was 2.7%. Actuarial freedom from reoperation and actuarial survival at 15 years were 77% (confidence interval [CI]: 70-83%) and 94% (CI: 90-97%), respectively. Reoperations occurred more frequently after conduit implantation (50%) than after patch reconstruction (17%) or transatrial ± transpulmonary approach (0%; P = 0.002). The transatrial ± transpulmonary approach was significantly less complicated, with a long-term RVOT obstruction of 0% compared with the other surgical techniques (45.4%; P = 0.03). Implantation of a RV-PA conduit was an independent risk factor for RVOT obstruction (odds ratio [OR]: 31; P < 0.001) and reoperation (OR: 20; P = 0.02). An immediate postoperative right ventricle/left ventricle (RV/LV) pressure ratio >0.5 was independently associated with a long-term RV/LV pressure ratio >0.5 (OR: 14; P = 0.001), but was not a risk factor for reoperation (P = 0.8). Postoperative electric ischaemic signs independently increased the risk of long-term heart failure (OR: 22; P = 0.04)., Conclusions: The transatrial ± transpulmonary approach displays the best long-term outcomes, by reducing the risks for RVOT obstruction and reoperation, but does not improve the patient survival. A RV-PA conduit was an independent risk factor for RVOT obstruction and reoperation. An immediate postoperative RV/LV pressure ratio >0.5 was not a risk factor for reoperation. The transatrial ± transpulmonary approach should be preferred to the implantation of a conduit or a tailored right ventriculotomy whenever possible.

Background: Pulmonary atresia with ventricular septal defect (PA/VSD) and major aortopulmonary collateral arteries (MAPCAs) is a complex form of congenital heart defect. One identifiable subset has small (<2.5 mm) intrapericardial branch pulmonary arteries that are (1) confluent, (2) have normal arborization, and (3) have dual-supplied collateral vessels. When this anatomy is associated with limited pulmonary blood flow, the patients are candidates for creation of an aortopulmonary window to stimulate growth of the pulmonary arteries. The purpose of this study was to review our experience with creation of an aortopulmonary window as the initial palliative procedure., Methods: This was a retrospective review of our surgical experience with 35 children undergoing aortopulmonary window creation from 2002 to 2011. Patients were identified by preoperative cardiac catheterization to define the cardiac and pulmonary artery anatomy., Results: There was no mortality in 35 patients undergoing aortopulmonary window creation. These patients have subsequently undergone 78 cardiac procedures (with 2 operative mortalities). Eighteen of these patients have achieved complete repair, 4 patients in a second procedure, 6 patients in a third procedure, 5 patients in a fourth procedure, and 3 patients in a fifth procedure., Conclusions: The data demonstrate that patients can undergo creation of an aortopulmonary window with excellent early results. Few patients were amenable to complete repair at the second operation, and most required multiple reoperations to recruit sufficient arborization. We interpret these counterintuitive results to suggest that hypoplastic central pulmonary arteries and diminished pulmonary blood flow are markers for a less well developed pulmonary vascular bed., (Copyright © 2012 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.)

Objectives: Implantation of stents into the ductus arteriosus is an alternative treatment to palliative or corrective cardiac surgery in newborns with duct-dependent pulmonary circulation, although the use of this technique for congenital heart disease is limited., Methods: Between April 2010 and June 2011, 13 patients underwent patent ductus arteriosus stenting after full assessment by echocardiogram and angiogram, two of patients had pulmonary atresia (PA) and ventricular septal defect (VSD), six patients had PA with intact ventricular septum (IVS), four patients had critical pulmonary stenosis with IVS and one single ventricle physiology with PA and four patients had radiofrequency-assisted perforation of the pulmonary valve at the same time. All procedures were retrograde through the femoral artery, except one, which was by the femoral vein approach., Results: The mean age and weight during intervention were 10.5±5.7 days and 3.1±0.4 kg, respectively. The mean of procedure and scopy time, time of stay in intensive care, total out-of-hospital and total follow-up time were 138.88±67.11 min; 40.32±25.86 min; 4.88±6.07 days; 11.00±6.89 days and 86.40±73.21 days, respectively. The mean of the radiation amount was 1054.27±1106.91 cGy/cm2. The mean of saturation before and after intervention were 64.44±5.83; 81.88±6.95%, respectively. Procedure-related deaths were observed in two patients. The causes of death were pulmonary haemorrhage (n=1) and retroperitoneal haemorrhage (n=1). Two patients also died after discharge before surgery due to sepsis (n=1) and aspiration pneumonia (n=1). Eight of 13 patients achieved stent patency during 6 months of follow up and re-stenosis developed in one patient (1/8; 12.5%) who had undergone a Glenn operation at 4.5 months of age., Conclusions: Ductal stenting is a practicable, effective, safer and less invasive method compared palliative or corrective surgery. Patients with ductal stenting have growth of the pulmonary artery which provides additional time for surgical repair. Our data suggested that ductal stenting should be considered as a first treatment step in newborns with duct-depended pulmonary circulation. However, long-term palliation without stent re-stenosismight still be a concern especially in patients with hypoplastic pulmonary arteries.

Purpose: The study aim was to determine outcomes of children with congenital heart disease who underwent laparoscopic procedures., Methods: A single-institution, institutional review board-approved, retrospective review was conducted including children younger than 5 years with congenital heart disease who underwent laparoscopic or open abdominal procedures. Patient demographics, operative details, complications, and 30-day mortality were examined., Results: Over 10 years, 111 children with congenital heart disease underwent 121 laparoscopic procedures. Median age was 2.5 months, with 87% being infants. Laparoscopic gastrostomy was the most common procedure (101). There was no intraoperative hemodynamic instability, median operative time was 70 minutes, postoperative complications were low (5%), and all children were alive at 30 days. Only 8 patients required conversion from laparoscopic to open, all secondary to technical issues, not hemodynamic instability. There were 42 children with cardiac disease who underwent 45 open procedures during the study period. There were no significant differences between patient demographics, type of procedure, operative time, complications, or 30-day mortality comparing the open and laparoscopic groups., Conclusion: In this review, there were no major contraindications to performing laparoscopic procedures in children with congenital heart disease, and we conclude that it is reasonably safe to perform laparoscopic surgery on these children., (Copyright © 2012 Elsevier Inc. All rights reserved.)

Background: This retrospective study evaluated factors associated with mortality and morbidity in patients having functionally biventricular heart (FBH) and functionally univentricular heart (FUH) undergoing total anomalous pulmonary venous connection (TAPVC) repair., Methods: We reviewed medical records retrospectively and identified 72 patients undergoing TAPVC repair between July 2002 and December 2010; and 62 patients had FBH and 10 patients had FUH. The median age and weight at repair was 9.1 months (range, 8 days-16 years) and 6.7 kg (range, 2.5-57 kg). The TAPVC anatomy was supracardiac in 41 (56.9%), cardiac in 18 (25%), infracardiac in eight (11.1%), and mixed in five patients (6.9%)., Results: There were seven early deaths (2 FBH [25%] and 5 FUH [62.5%]) and one late death (FUH). Presence of FUH (p < 0.01), heterotaxy syndrome (p = 0.03), young age (p < 0.01), low weight (p < 0.01) and long CPB time (p = 0.04) at the time of surgery were statistically significant risk factors for mortality. Morbidity was related to long duration of postoperative mechanical ventilation, intensive care unit and hospital stay. Presence of FUH was the only significant risk factor for morbidity (p < 0.01). After a mean follow-up of 52.1 months (range, 3-74 months), 59 (92%) of 64 survivors were asymptomatic without any medication, and five have mild symptoms with regular physical activity., Conclusion: Operative results of TAPVC have dramatically improved in recent years. However, patients having FUH (especially with concomitant palliative surgery), heterotaxy syndrome, low weight, early age, and long CPB time still have an increased operative mortality., (© 2012 Wiley Periodicals, Inc.)

In women who have suffered mid-trimester prelabor rupture of membranes (PPROM), prediction of pulmonary hypoplasia is important for optimal management. We performed a systematic review to assess the capacity of imaging parameters to predict pulmonary hypoplasia. We searched for published articles that reported on biometric parameters and allowed the construction of a 2 × 2 table, comparing at least one of these parameters with the occurrence of pulmonary hypoplasia. The selected studies were scored on methodological quality and we calculated sensitivity and specificity of the tests in the prediction of pulmonary hypoplasia and lethal pulmonary hypoplasia. Overall performance was assessed by summary receiver-operating characteristics (sROC) analyses that were performed with bivariate meta-analysis. We detected 13 studies that reported on the prediction of lethal pulmonary hypoplasia. The quality of the included studies was poor to mediocre. The estimated sROC curves for the chest circumference/abdominal circumference ratio and other parameters showed limited accuracy in the prediction of pulmonary hypoplasia. In women with mid-trimester PPROM, the available evidence indicates limited accuracy of biometric parameters in the prediction of pulmonary hypoplasia., (Copyright © 2012 ISUOG. Published by John Wiley & Sons, Ltd.)

Background: Little is known about associated anomalies in fetuses with gastroschisis (GS) who experience an "atypical perinatal event," defined as spontaneous abortion, stillbirth, termination, or death within 24 hours of birth., Purpose: This study aims to compare associated malformation rates in an atypical perinatal event cohort vs newborns with GS surviving longer than 24 hours., Methods: A national prospective GS database was analyzed for cases with an atypical perinatal event. Associated anomaly rates were compared between this cohort and babies surviving longer than 24 hours., Results: Twenty-three atypical perinatal events (2 spontaneous abortions, 7 stillbirths, 11 terminations, and 3 deaths within 24 hours) were identified from 529 total GS cases. Autopsies in 14 (61%) of 23 identified at least 1 anomaly (excluding intestinal, patent ductus arteriosus, and undescended testicle) in 11 (78.6%) and a "lethal" anomaly in 4 (36%). The associated anomaly rate in newborns surviving longer than 24 hours was 7.3% (37/506; P < .0001). The anomalies in the atypical perinatal event cohort were musculoskeletal (35%), cardiac, central nervous system, pulmonary, and genitourinary (12% each). Among survivors, the most common anomalies were cardiac (38%), genitourinary (32%), musculoskeletal (16%), and central nervous system (8%)., Conclusion: Rates of associated anomalies are significantly higher in fetuses experiencing atypical perinatal events and may represent the "hidden mortality" of GS., (Copyright © 2012 Elsevier Inc. All rights reserved.)

Objective.  Infants with critical congenital heart disease (CHD) can have genetic and other extracardiac malformations, which add to the short- and long-term risk of morbidity and perhaps mortality. We sought to examine our center's practice of screening for extracardiac anomalies and to determine the yield of these tests among specific cardiac diagnostic categories. Design.  Retrospective review of infants admitted to the cardiac intensive care unit with a new diagnosis of CHD. Subjects were categorized into six groups: septal defects (SD), conotruncal defects (CTD), single-ventricle physiology (SV), left-sided obstructive lesions (LSO), right-sided obstructive lesions (RSO), and "other" (anomalous pulmonary venous return, Ebstein's anomaly). Screening modalities included genetic testing (karyotype and fluorescent in situ hybridization for 22q11.2 deletion), renal ultrasound (RUS), and head ultrasound (HUS). Results.  One hundred forty-one patients were identified. The incidence of cardiac anomalies was: CTD (36%), SD (18%), SV (18%), LSO (14%), RSO (3%), and "other" (8%). Overall 14% had an abnormal karyotype, 5% had a deletion for 22q11.2, 28% had an abnormal RUS and 22% had abnormal HUS. Patients in SD and SV had the highest incidence of abnormal karyotype (36% and 17%); 22q11.2 deletion was present only in CTD and LSO groups (9% and 7%, respectively); abnormal RUS and HUS were seen relatively uniformly in all categories. Premature infants had significantly higher incidence of renal 43% vs. 24%, and intracranial abnormalities 46% vs. 16%. Conclusion.  Infants with critical CHD and particularly premature infants have high incidence of genetic and other extracardiac anomalies. Universal screening for these abnormalities with ultrasonographic and genetic testing maybe warranted because early detection could impact short and long-term outcomes., (© 2011 Wiley Periodicals, Inc.)

Unlabelled: Gastroschisis and omphalocele are the most common malformation of the anterior abdominal wall.The aim of the study was to determine the abdominal wall defect frequencies, survival, and mortalities in Ahvaz, Khuzestan province of Iran.Materiał and methods. All cases born with omphalocele or gastroschisis whom born in Imam Khomeini hospital, were included in this study. Duration of study was 3 years from April 2005. All patients treated at Imam Khomeini hospital in Ahwaz, Iran.Results. Among 15321 consecutive births, 42 patients had abdominal wall deformity. Overall incidence was 27.41 per 10,000 live births. Of all cases, 18 (42.9%) of cases were male and 24 (57.1%) were female. Of all cases, 21.7% of patients with omphalocele and 10% patients with gastroschisis had other anomalies. Of all cases, 71.8% of patients with omphalocele and 60% with gastroschisis underwent surgery. The type of anomaly (omphalocele and gastroschisis) had correlation with post operation prognosis significantly (p<0.001). Of 66.7% of patients under went surgery, 46.4% with mesh and 53.6% without mesh performed. 80% of patients with omphalocele and 20% with gastroschisis were lived., Conclusions: In our study, mortality was significantly higher in cases with gastroschisis than cases with omphalocele.

"Hypoplastic left heart syndrome" is an unsatisfactory term describing lethal underdevelopment of the left ventricle (LV). It represents the more severe end of a spectrum of LV hypoplasia, mandating single-ventricle palliation or cardiac transplantation. Less severe "borderline" ventricular hypoplasia may instead allow various biventricular therapeutic strategies and better long-term outcomes. In this review, we consider factors causing and modifying the abnormal development of the LV. LV hypoplasia is typically seen in association with left ventricular outflow tract obstruction, itself part of a spectrum of related defects with common etiologies. Secondary responses to outflow obstruction are complex but involve abnormal flow dynamics and shear stresses that result in compromised and poorly orchestrated ventricular growth and development. Subsequent remodeling is likely influenced by genetic modifiers, including intrinsic myocardial growth signaling pathways, possibly including those of HAND transcription factors. In addition, during the latter stages of gestation, cardiomyocytes undergo a switch in myogenic potential and lose the ability to undergo mitosis. Ventricular hyperplasia can therefore no longer occur; remodeling is instead limited to muscular hypertrophy. Subtle differences in this switch in myogenic potential--and modulators thereof--are likely to be of clinical and therapeutic importance, especially in children with "borderline LVs" being considered for fetal interventions or post-natal biventricular repair strategies. Finally, by more clearly understanding the initiators and propagators of abnormal ventricular development, we can hope to lean away from grouping a heterogeneous group of infants together under the unsatisfactory term "hypoplastic left heart syndrome.", (Copyright © 2012 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.)