VACTERL Research Articles

Phenotypic Characteristics and Copy Number Variants in a Cohort of Colombian Patients with VACTERL Association

VACTERL association (OMIM 192350) is a heterogeneous clinical condition characterized by congenital structural defects that include at least 3 of the following features: vertebral abnormalities, anal atresia, heart defects, tracheoesophageal fistula, renal malformations, and limb defects. The nonrandom occurrence of these malformations and some familial cases suggest a possible association with genetic factors such as chromosomal alterations, gene mutations, and inherited syndromes such as Fanconi anemia (FA). In this study, the clinical phenotype and its relationship with the presence of chromosomal abnormalities and FA were evaluated in 18 patients with VACTERL association. For this, a G-banded karyotype, array-comparative genomic hybridization, and chromosomal fragility test for FA were performed. All patients (10 female and 8 male) showed a broad clinical spectrum: 13 (72.2%) had vertebral abnormalities, 8 (44.4%) had anal atresia, 14 (77.8%) had heart defects, 8 (44.4%) had esophageal atresia, 10 (55.6%) had renal abnormalities, and 10 (55.6%) had limb defects. Chromosomal abnormalities and FA were ruled out. In 2 cases, the finding of microalterations, namely del(15)(q11.2) and dup(17)(q12), explained the phenotype; in 8 cases, copy number variations were classified as variants of unknown significance and as not yet described in VACTERL. These variants comprise genes related to important cellular functions and embryonic development.

Morbidity of congenital heart disease in children with anorectal malformations and related treatment

To investigate the morbidity of congenital heart defects(CHDs) in children with anorectal malformation, and to summarize appropriate treatment. The clinical data and echocardiographic findings of 155 children with congenital anorectal malformations from the Third Affiliated Hospital of Zhengzhou University during January 2016 and October 2019 were reviewed. According to the surgical findings of anorectal malformations, the patients were categorized as the high/intermediate group and the low group; the CHDs were classified as minor CHDs and major CHDs. Multiple logistic regression was used to analyze the correlation of wingspread classification, and extracardiac malformations with the severity of CHDs. Out of 155 children with anorectal malformations, 47 (30.3%) had different types of cardiac structural malformations, including 18 cases of minor CHDs (11.6%) and 29 cases of major CHDs (18.7%). Sixty children (38.7%) had extracardiac malformations, of which 38 cases (24.5%) had a single extracardiac malformation, 15 cases (9.7%) had multiple extracardiac malformations, 6 had trisomy 21 syndrome, and 1 had VATER syndrome. Multivariate logistic regression analysis showed that wingspread classification of anorectal malformation and extracardiac disorders were independent risk factors for major CHDs. The probability of major CHDs in children with high/intermediate anorectal malformation was 4.709 times higher than that with low anorectal malformation (OR=4.709, 95% CI: 1.651-13.432, P<0.01). The probability of major CHDs was 3.85 times higher for increasing each additional grade of extracardiac malformations(without, with single, or multiple malformations) (OR=3.850, 95% CI: 2.065-7.175, P<0.01). According to the presence and severity of CHDs, children with anorectal malformations were classified into three categories: without CHDs, with minor CHDs and with major CHDs, for differential treatment and management. Anorectal malformations would be treated and managed in children without CHDs and with minor CHDs following the original plan; however, children with minor CHDs may require cardiac follow-up after surgery. In children with major CHDs, the personalization tactics were developed based on the principle of emergency first. There were increased perioperative infection rate (P<0.05), longer hospital days (P<0.01), reduced cure rate (P<0.05) and increased mortality (P<0.05) in children with major, compared with those without CHDs and minor CHDs. The morbidity of major CHDs is higher in severe cases with high/intermediate anorectal malformation and acute cases without fistula or with obstructed fistula and cases with multiple congenital disorders. Echocardiography can define the type and severity of CHDs, which are useful to develop the optimal diagnosis and treatment plan for children with anorectal malformation.

VP13.18: When prenatal diagnosis goes a step further: review of 10 hemivertebra cases

Review hemivertebra fetal diagnosis for 15 years: their prenatal implications, accuracy of prenatal diagnosis and perinatal outcome and development. Retrospective observational study of all cases of suspected hemivertebra identified in CAUSA Prenatal Diagnosis Unit between 2005 to 2020. From a total of 11 cases in the studied period, data was obtained of 10 of them. Most of them were diagnosed in morphological ultrasound (20 wk) but one of them before at 12 weeks scan. Most frequency hemivertebra localisation was lumbar (5 cases), follow by dorsal and sacral (3 cases each). 60% of them were unique hemivertebra. 80% were male sex. UUA was found in 20%. Two cases were associated with renal malformations: agenesis and ectopic (VACTERL association). One case with tallus foot and other with ventriculomegalia. One of them (dorsal and solitary hemivertebra) was a Marfan diagnosis. Any parent had clinic, but maternal study of Marfan was possible due to fetal detection. Vaginal delivery was possible in 60% of them. Caesarean, not for fetal causes, were indicated in rest. Mean gestational age at delivery was 38 weeks (one case of preterm birth). Mean fetal weight was 2800 gr (three cases under 2,500g). 90% of fetus survive prenatally. One of them, associated with ventriculomegalia, was a stillbirth at 23 wk. It was a BI/BI twin pregnancy with a good outcome of the other one. 40% of them (3/4 solitary hemivertebra) had a good life quality without interventions in childhood life and limited disabilities. 20% of them are under rehabilitation program, waiting for surgery due to severe scoliosis or instability. Two of them undergone surgery and their life quality is reduced. Hemivertebra is not always relation with reduced future life quality. Unique affectation without syndromic component seems to be a good prognostic factor. Male sex appears being more affected and lumbar hemivertebra the most frequent localisation. With an early and accurancy diagnosis, multispecialist prenatal assessment should be performed.

Prevalence of Tracheoesophageal Anomaly Cases among Neonates Undergoing Surgery in a Tertiary Care Children’s Hospital.

Tracheo-oesophageal anomaly is the abnormal communication between trachea and oesophagus. The most common type of tracheo-oesophageal anomaly is oesophageal atreasia with distal tracheo oesophageal fistula. Tracheo-oesophageal anomaly is a common neonatal problem requiring an urgent surgery. Tracheo-oesophageal anomaly can be diagnosed as an isolated malformation or as part of polymalformative syndrome with possible vertebrae anomalies also known as Vacterl syndrome. The aim of the study is to find out the prevalence of tracheo-oesophageal anomaly cases among neonates undergoing surgery in a tertiary care childrens hospital in Nepal. This is a descriptive cross sectional study conducted in a tertiary care children’s hospital in Nepal taking into account the medical records from period of 01 Jan, 2018 to Dec 31, 2019. Study population included the infants undergoing operative procedure in the operation theatre of Kanti Children’s Hospital. The calculated sample size was 306. Data was collected by retrospective chart review technique and listed in performa. Consecutive sampling technique was used. Thus collected data was entered in SPSS version 20 and necessary calculations were done. The prevalence of tracheo-oesophageal anomalies was found out to be 30 (9.8%) at 95% confidence interval. The most common problem, with which infants were brought to Kanti Children’s Hospital, that required urgent neonatal surgical intervention was anorectal malformation constituting 94 (30.72%) of the surgeries followed by intestinal obstruction 76 (24.84%) which included duodenal atresia, jujunal atresia and ileal atresia. Tracheo-oesophageal anomaly constitutes a major portion of neonatal disease condition requiring surgery in Nepal.

Cardiac, Renal and Gastrointestinal Anomalies in a Neonate: Could this be VACTERL Association? A Case Report

Introduction: VACTERL association is a rare congenital defect. It is a constellation of the involvement of six systems which comprise of vertebral defects, anal atresia, cardiac defects, trachea-oesophageal fistula, renal anomalies and limb abnormalities. At least three systems should be involved before VACTERL is suspected and in many cases, it is difficult to differentiate it from other multiple congenital anomalies.&#x0D; Case Report: We present a day old preterm neonate who presented with respiratory distress and abdominal distension at birth. Late pregnancy ultrasound done at 34 weeks gestation showed a singleton fetus with gross ascites, dilated urinary bladder and bilateral calyceal dilatation. On examination, he had hyper-plantar flexion of the left ankle joint, ascites and a loud systolic murmur. Abdominal scan showed bilateral renal stones with medullary sponge kidneys, gaseous distension of the bowels and massive ascites. Transthoracic echocardiography showed a 10 mm ostium secundum atrial septal defect, 6 mm perimembranous ventricular septal defect and a 3 mm patent ductus arteriosus. Micturating cystourography showed a dilated posterior urethra with an appearance of a ring lucent filling defect at the membranous urethra and an irregular and beading distal urethra which was suggestive of posterior urethral valves (diaphragmatic type).&#x0D; Conclusion: VACTERL association occurs sporadically in most cases and presentation is varied depending on the degree of systemic affectation. Our patient presented with a constellation of congenital defects which could all fit into the criteria for VACTERL association, however because of the lack of genetic testing, it is difficult to determine if this is just a chance occurrence of multiple congenital anomalies.

Association of Radial Longitudinal Deficiency and Thumb Hypoplasia: An Update Using the CoULD Registry.

Deficiency of the radial aspect of the forearm and hand is the most common congenital longitudinal deficiency of the upper limb. Radial longitudinal deficiency is associated with several named syndromes. The purpose of the present study was to explore patterns of radial longitudinal deficiency and thumb hypoplasia in syndromes and to examine the severity of these differences across various syndromes. Data were collected from the Congenital Upper Limb Differences (CoULD) registry. Congenital differences are classified in the registry with use of the Oberg-Manske-Tonkin (OMT) classification system. Diagnosis of a syndrome by a physician as noted in the CoULD registry was recorded. Thumb deficiency and radial deficiency were classified according to the modified versions of the Blauth criteria and the Bayne and Klug criteria, respectively. We identified 259 patients with 383 affected limbs with radial deficiency. Eighty-three of these patients had a diagnosed syndrome. The severity of radial deficiency was correlated with the severity of thumb deficiency. The Kendall tau coefficient indicated significant correlation between radial severity and thumb severity (tau = 0.49 [95% confidence interval = 0.40 to 0.57]; p < 0.05). Subjects with a syndrome were twice as likely to have bilateral deficiency and 2.5 times more likely to have both radial and thumb deficiency compared with subjects without a syndrome. Subjects with VACTERL syndrome (vertebral defects, anal atresia, cardiac anomalies, tracheoesophageal fistula, renal anomalies, and limb defects) had patterns of thumb and radial deficiency similar to the general cohort, whereas subjects with Holt-Oram syndrome, TAR (thrombocytopenia absent radius) syndrome, and Fanconi anemia demonstrated varied presentations of thumb and radial deficiency. The present study investigated the characteristics of patients with radial longitudinal deficiency and thumb hypoplasia. Our results support the findings of previous research correlating the severity of radial deficiency with the severity of thumb deficiency. Furthermore, we identified characteristic features of patients with radial longitudinal deficiency and associated syndromes.

Ultrasound relevance in prenatal diagnosis of vacterl association - two clinical cases

VATER is a nonrandom association of congenital defects with common developmental pathogenesis including/which includes malformations like vertebral defects, anal atresia or imperforate anus, tracheoesophageal fistula with esophageal atresia, and radial or renal dysplasia. VATER acronym was initially used to describe this association, but other malformations, like cardiac defects and limb anomalies, were later also considered cardinal features and included, changing the acronym to VACTERL.Although few cases have been reported, VATER/VACTERL spectrum association can be detected in first-trimester ultrasound. Herein, the authors describe two cases of VATER/VACTERL association suspected during the 12-week ultrasound and confirmed in anatomopathological study. Prenatal VACTERL association diagnosis is challenging and rarely detected in the first pregnancy trimester. It requires skill and experience to interpret ultrasound findings and some features are difficult to recognize before birth. Early diagnosis is important for parental counselling and delivery planning. Management options include medical pregnancy termination and delivery in a tertiary center to improve outcomes.

Maternal risk associated with the VACTERL association: A case-control study.

BackgroundThe VACTERL association (VACTERL) includes at least three of these congenital anomalies: vertebral, anal, cardiac, trachea‐esophageal, renal, and limb anomalies. Assisted reproductive techniques (ART), pregestational diabetes mellitus, and chronic lower obstructive pulmonary disorders (CLOPD) have been associated with VACTERL. We aimed to replicate these findings and were interested in additional maternal risk factors.MethodsA case–control study using self‐administered questionnaires was performed including 142 VACTERL cases and 2,135 population‐based healthy controls. Multivariable logistic regression analyses were performed to estimate confounder adjusted odds ratios (aOR) and 95% confidence intervals (95%CI).ResultsParents who used invasive ART had an increased risk of VACTERL in offspring (aOR 4.4 [95%CI 2.1–8.8]), whereas the increased risk for mothers with CLOPD could not be replicated. None of the case mothers had pregestational diabetes mellitus. Primiparity (1.5 [1.1–2.1]) and maternal pregestational overweight and obesity (1.8 [1.2–2.8] and 1.8 [1.0–3.4]) were associated with VACTERL. Consistent folic acid supplement use during the advised periconceptional period may reduce the risk of VACTERL (0.5 [0.3–1.0]). Maternal smoking resulted in an almost twofold increased risk of VACTERL.ConclusionWe identified invasive ART, primiparity, pregestational overweight and obesity, lack of folic acid supplement use, and smoking as risk factors for VACTERL.

Sirenomelia with vertebral, anal, cardiac defect, tracheo-esophageal fistula, renal anomalies, limb abnormalities association: a case report

Sirenomelia is a rare congenital malformation, characterised by abnormal development of caudal part of body with variable degree of fusion of lower limbs. VACTERL is an acronym used for a group of sporadic non-random birth defects involving multiple organ systems, namely vertebral (V), anal (A), cardiac (C), tracheoesophageal (TE), renal (R) and limb (L) defects. Combination of both the anomalies is very rarely reported in literature. Survival is extremely rare and early prenatal diagnosis may allow for termination of pregnancy. Here we present a case of sirenomelia phenotype, with a complete spectrum of autopsy findings, suggestive of VACTERL association.

Sirenomelia Associated with VACTERL and VACTERL-H Syndrome

Sirenomelia Associated with VACTERL and VACTERL-H Syndrome

A graph theory approach to analyze birth defect associations.

Birth defects are prenatal morphological or functional anomalies. Associations among them are studied to identify their etiopathogenesis. The graph theory methods allow analyzing relationships among a complete set of anomalies. A graph consists of nodes which represent the entities (birth defects in the present work), and edges that join nodes indicating the relationships among them. The aim of the present study was to validate the graph theory methods to study birth defect associations. All birth defects monitoring records from the Estudio Colaborativo Latino Americano de Malformaciones Congénitas gathered between 1967 and 2017 were used. From around 5 million live and stillborn infants, 170,430 had one or more birth defects. Volume-adjusted Chi-Square was used to determine the association strength between two birth defects and to weight the graph edges. The complete birth defect graph showed a Log-Normal degree distribution and its characteristics differed from random, scale-free and small-world graphs. The graph comprised 118 nodes and 550 edges. Birth defects with the highest centrality values were nonspecific codes such as Other upper limb anomalies. After partition, the graph yielded 12 groups; most of them were recognizable and included conditions such as VATER and OEIS associations, and Patau syndrome. Our findings validate the graph theory methods to study birth defect associations. This method may contribute to identify underlying etiopathogeneses as well as to improve coding systems.

VACTERL Association in a Newborn – A Rare Case Report

Syndrome or association VACTERL is a group of several birth defects of congenital anomalies in an individual. There must be at least 3 anomalies simultaneously for this syndrome to be referred, including spinal anomalies, anorectal anomalies, cardiac disorders, esophageal atresia with tracheoesophageal fistula, renal anomaly and limb anomalies. The organs involvement in VACTERL may present different severity and quality, from asymptomatic to life-threatening cases. Various studies have reported the other congenital associations such as cerebrovascular and pulmonary anomalies in addition to the above-mentioned called as the non-VACTERL association. The patient in this study had all 6 VCTERL syndrome criteria. The feature of this patient was the involvement of his limb and kidney anomaly, which were different on both sides. However, in previously reported cases, these two anomalies were both in one direction and on the same side. Finally, the VACTERL syndrome and Non-VACTERL Association in this patient represented in the form of esophageal atresia with trachea esophageal fistula and atrial septal defect, and the presence of a kidney with severe hydronephrosis and sacral agenesis and imperforated anus, recto vesical fistula and limb anomalies in the form of one-phalanx fingers on the left.

Exome Sequencing and Identification of Phenocopies in Patients With Clinically Presumed Hereditary Nephropathies

Hereditary nephropathies are clinically and genetically heterogeneous disorders. For some patients, the clinical phenotype corresponds to a specific hereditary disease but genetic testing reveals that the expected genotype is not present (phenocopy). The aim of this study was to evaluate the spectrum and frequency of phenocopies identified by using exome sequencing in a cohort of patients who were clinically suspected to have hereditary kidney disorders. Cross-sectional cohort study. 174 unrelated patients were recruited for exome sequencing and categorized into 7 disease groups according to their clinical presentation. They included autosomal dominant tubulointerstitial kidney disease, Alport syndrome, congenital anomalies of the kidney and urinary tract, ciliopathy, focal segmental glomerulosclerosis/steroid-resistant nephrotic syndrome, VACTERL association, and "other." A genetic diagnosis (either likely pathogenic or pathogenic variant according to the guidelines of the American College of Medical Genetics) was established using exome sequencing in 52 of 174 (30%) cases. A phenocopy was identified for 10 of the 52 exome sequencing-solved cases (19%), representing 6% of the total cohort. The most frequent phenocopies (n=5) were associated with genetic Alport syndrome presenting clinically as focal segmental glomerulosclerosis/steroid-resistant nephrotic syndrome. Strictly targeted gene panels (<25 kilobases) did not identify any of the phenocopy cases. The spectrum of described phenocopies is small. Selection bias may have altered the diagnostic yield within disease groups in our study population. The study cohort was predominantly of non-Finnish European descent, limiting generalizability. Certain hereditary kidney diseases cannot be diagnosed by using exome sequencing (eg, MUC1-autosomal dominant tubulointerstitial kidney disease). Phenocopies led to the recategorization of disease and altered clinical management. This study highlights that exome sequencing can detect otherwise occult genetic heterogeneity of kidney diseases.

Maternal risk factors for the VACTERL association: A EUROCAT case-control study.

BackgroundThe VACTERL association (VACTERL) is the nonrandom occurrence of at least three of these congenital anomalies: vertebral, anal, cardiac, tracheoesophageal, renal, and limb anomalies. Despite suggestions for involvement of several genes and nongenetic risk factors from small studies, the etiology of VACTERL remains largely unknown.ObjectiveTo identify maternal risk factors for VACTERL in offspring in a large European study.MethodsA case–control study was performed using data from 28 EUROCAT registries over the period 1997–2015 with case and control ascertainment through hospital records, birth and death certificates, questionnaires, and/or postmortem examinations. Cases were diagnosed with VACTERL, while controls had a genetic syndrome and/or chromosomal abnormality. Data collected included type of birth defect and maternal characteristics, such as age, use of assisted reproductive techniques (ART), and chronic illnesses. Multivariable logistic regression analyses were performed to estimate confounder adjusted odds ratios (aOR) with 95% confidence intervals (95% CI).ResultsThe study population consisted of 329 VACTERL cases and 49,724 controls with recognized syndromes or chromosomal abnormality. For couples who conceived through ART, we found an increased risk of VACTERL (aOR 2.3 [95% CI 1.3, 3.9]) in offspring. Pregestational diabetes (aOR 3.1 [95% CI 1.1, 8.6]) and chronic lower obstructive pulmonary diseases (aOR 3.9 [95% CI 2.2, 6.7]) also increased the risk of having a child with VACTERL. Twin pregnancies were not associated with VACTERL (aOR 0.6 [95% CI 0.3, 1.4]).ConclusionWe identified several maternal risk factors for VACTERL in offspring befitting a multifactorial etiology.

Patterns of malformation associated with esophageal atresia/tracheoesophageal fistula: A retrospective single center study.

Esophageal atresia/tracheoesophageal fistula (EA/TEF) is one of the most common gastrointestinal birth defects. It can occur in isolation or in association with other birth defects or genetic syndromes. We retrospectively reviewed the EA/TEF cases evaluated at Rady Children's Hospital San Diego (San Diego, CA) between 2007 and 2016. Data were collected for 157 patients. The majority of patients (105, 66.8%) had an associated major malformation present, and 52 patients (33.1%) had isolated EA/TEF. The patients with associated malformations were distributed as follows: 16 patients (10.2%) had a known genetic syndrome (the most common being Trisomy 21 in 11 patients); six patients (3.8%) had a suspected genetic syndrome; one patient had a suspected teratogenic syndrome (diabetic embryopathy); 30 patients had VACTERL association (19.1%); 32 patients had a "partial VACTERL" association (only two VACTERL-type defects without other malformation); nine patients (5.7%) had one additional non-VACTERL-type birth defect, two patients had VACTERL-type defects plus auricular malformations; and nine patients (5.7%) were classified as "unknown syndrome." A classification of the patterns of malformation of patients with congenital EA/TEF is proposed based on reviewing the data of this relatively large and phenotypically diverse patient group.

MEDICAL ASSISTANCE IN DYING (MAID) IN ADULT CONGENITAL HEART DISEASE (ACHD)

In June 2016, the Parliament of Canada passed federal legislation that allows eligible Canadian adults to request MAID. A 42-year-old man with VACTERL syndrome, left lung hypoplasia and recurrent heart failure secondary to repaired tetralogy of Fallot (TOF) requested information about MAID. The

Laparoscopic-assisted gastric pull-up: initial experience and technical details

To describe our initial experience in laparoscopic-assisted gastric pull-up via posterior mediastinal route in comparison with our historic experience performed by open laparotomy gastric pull-up via retrosternal route. The results of the two approaches were evaluated in this study. Between 2000 and 2017, we conducted a retrospective review of all patients that had undergone gastric transposition for esophageal atresia (EA) and long caustic strictures when preservation of the native esophagus was not possible. A total of 17 pediatric patients underwent gastric pull-up transposition as esophageal replacement technique. The patients were divided into two groups. Group A (2000–2015) consisted of 11 patients that underwent open laparotomy gastric pull-up via the retrosternal route. Three Group A patients had EA Type I, two had EA Type II, five had EA Type III, and one long caustic stricture. Associated anomalies included VACTERL association in two cases, Down syndrome in one case and intestinal malrotation in one case. The mean age at surgery was 2.2 years and the mean follow-up was 9.3 years. All patients were able to achieve oral feeds. Group B (2016–2018) consisted of six patients that underwent laparoscopic-assisted gastric transposition via posterior mediastinal pathway. Three had EA Type I, two had EA Type III, and one had a long caustic esophageal stricture. Associated anomalies included a single case of VACTERL association. Previous surgeries included two thoracotomies and two esophagostomies in patients with EA/TEF and one gastro-jejunal anastomosis in a patient with pyloric total disconnection after pyloric balloon dilatation for caustic esophageal and pyloric stricture. All patients underwent gastrostomy. Laparoscopic procedure was successfully completed in all patients without conversion. The mean follow-up in Group B was 27 months. All patients were able to establish oral feeds. Laparoscopic-assisted gastric pull-up as esophageal replacement technique is safe and has few complications. Slight modifications of the technique such as pyloric dilation reduce laparoscopic surgical time.

Spinal dysraphism as a new entity in V.A.C.TE.R.L syndrome, resulting in a novel acronym V.A.C.TE.R.L.S.

Anorectal malformation (ARM) is the most common symptom in VACTERL syndrome (vertebral, anal, cardiac, tracheo-esophageal fistula, renal, and limb anomalies). The association of ARM and spinal dysraphisms (DYS) is well documented. We aim to better evaluate children with VACTERL association and ARM, considering the presence or not of DYS. Between 2000 and 2015, 279 children with VACTERL associations were identified in Necker Children's Hospital, Paris. We identified 61 VACTERL children (22%) with ARM. A total of 52 VACTERL children with ARM were included. DYS were identified in 36/52 of cases (69.2%). A total of 33 (63.5%) VACTERL children presented with sphincterial dysfunction. We constated that 28/33 (84.8%) of them had DYS + (p < 0.0001). More children in ARM (DYS +) subgroup are presenting with initial urinary sphincter dysfunction (58 vs 19%, p < 0.009) than ARM (DYS-). We identified 29 lipoma filum in our series, which were not statistically associated with urinary disorders (p = 0.143).Conclusion: We propose to refine the definition of VACTERL association, by adding S as Spinal defect to include it as an integral part of this syndrome, resulting in a novel acronym V.A.C.TE.R.L.S.What is Known:• The VACTERL association: congenital anomalies of the bony vertebral column (V), anorectal malformation (A), congenital cardiopathy (C), tracheo-esophageal defects (TE), renal and urinary tract anomalies (R), and limb malformations (L).• VACTERL children needs a complete appraisal, as early as possible, to adopt the most appropriate therapeutic management.What is New:• Include spine dysraphism (DYS) as a part of this syndrome, resulting in a novel acronym V.A.C.TE.R.L.S.• The significant correlation between VACTERL/DYS and urinary dysfunction requires to investigate the spine cord prenatally.

Nationwide analysis of mortality and hospital readmissions in esophageal atresia

PurposeThe purpose of this study is to identify determinants of mortality and hospital readmission in infants born with esophageal atresia ± tracheoesophageal fistula. MethodsThe Nationwide Readmissions Database (2010–2014) was queried for newborns with a diagnosis of esophageal atresia. Outcomes included mortality and readmissions at 30-day and 1-year. Results3157 patients were identified, of which 54% were male. 81% had an additional congenital anomaly, and 35% had VACTERL association. Overall mortality at index hospitalization was 11% (n = 360) and was significantly higher with additional congenital anomalies (13%), VACTERL (19%), and Spitz classification II/III (18%) vs. isolated esophageal atresia/tracheoesophageal fistula (4%), all p < 0.001. After esophageal atresia repair (n = 2179), 10% (n = 212) were readmitted within 30 days and 26% (n = 563) within 1 year, with 17% admitted to different hospitals. Common diagnoses during readmission were GERD (54%), infections (42%), failure to thrive (17%), tracheomalacia (14%), and esophageal stricture (10%). Unplanned readmissions accounted for 85% of readmissions. A large number underwent operative procedures, most commonly esophageal dilation (17%) and fundoplication/gastrostomy (12%). ConclusionOur study has uncovered a high likelihood of complications and unplanned readmission within the first year of life for newborns with esophageal atresia. Coordinated multidisciplinary care may help to decrease unnecessary readmissions and improve outcomes in this vulnerable population. Type of studyRetrospective comparative analysis. Level of evidenceLevel III.

Three-Dimensional Printing of Fetal Models of Congenital Heart Disease Derived From Microfocus Computed Tomography: A Case Series.

This article presents a case series of n = 21 models of fetal cardiovascular anatomies obtained from post mortem microfocus computed tomography (micro-CT) data. The case series includes a broad range of diagnoses (e.g., tetralogy of Fallot, hypoplastic left heart syndrome, dextrocardia, double outlet right ventricle, atrio-ventricular septal defect) and cases also had a range of associated extra-cardiac malformations (e.g., VACTERL syndrome, central nervous system anomalies, renal anomalies). All cases were successfully reconstructed from the microfocus computed tomography data, demonstrating the feasibility of the technique and of the protocols, including in-house printing with a desktop 3D printer (Form2, Formlabs). All models were printed in 1:1 scale as well as with the 5-fold magnification, to provide insight into the intra-cardiac structures. Possible uses of the models include education and training.