Management and outcome of neonates with a prenatal diagnosis of esophageal atresia type A: A population-based study.

OBJECTIVE: Evaluate the neonatal management and outcomes of neonates with prenatal diagnosis of esophageal atresia (EA) type A. METHODS: This population-based study was conducted using data from the French National Register for infants with EA born from 2008 to 2014, including all cases of EA type A. We compared prenatal and neonatal characteristics and outcomes in children with prenatal diagnosis of EA type A with those with a postnatal diagnosis until the age of 1. RESULTS: A total of 1118 live births with EA were recorded among which 88 (7.9%) were EA type A. Prenatal diagnoses were performed in 75 cases (85.2%), and counselling with a prenatal specialist was conducted in 84.8% of the prenatal group. Still within that group, the gestational age at delivery was significantly higher than in the postnatal group (36 [35-38] versus 34 [32-36] weeks; P = .048). Inborn births were more frequent in the prenatal group (86.1% vs 7.7%, P < .0001), and mortality and outcome were similar in both groups. CONCLUSION: Prenatal diagnosis is high in EA type A, which enables to offer an antenatal parental counseling and which avoids postnatal transfers. Prognosis of EA types A does not appear to be influenced by the prenatal diagnosis.

Review shows that implementing a nationwide protocol for congenital diaphragmatic hernia was a key factor in reducing mortality and morbidity.

The French Rare Disease Reference Center for congenital diaphragmatic hernia (CDH) was created in 2008, to implement a national protocol for foetuses and children with this serious condition. Neonatal mortality from CDH is 30-40%, mainly due to pulmonary hypoplasia and persistent pulmonary hypertension, and half of those who live have high respiratory, nutritional and digestive morbidity. CDH management requires long-term and specialised multidisciplinary care. It has been well established that a standardised management protocol improves the prognosis of children with CDH. CONCLUSION: Organising health care and implementing a nationwide French protocol were key factors for reducing mortality and morbidity from CDH.

The contribution of fetal MR imaging to the assessment of oesophageal atresia.

OBJECTIVE: Present challenges are to improve the diagnosis rate of oesophageal atresia (OA) and evaluate as completely as possible a fetus affected by OA, specifically the type of OA and the length of the gap. Our aim was to evaluate the accuracy of fetal MR imaging (fMRI) for diagnosis of OA. METHODS: We reviewed fMRI performed because of sonographic suspicion of an OA. The signs reviewed included stomach size, "pouch sign", bowing of the trachea and visualization of the lower oesophageal lumen. The fetuses were assigned by consensus as having or not having EA, as well as having a tracheaoesophageal fistula (TOF). All findings were correlated with postnatal data. Sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) were calculated. RESULTS: Se, Sp, PPV and NPV of the technique were respectively 91%, 100%, 100% and 88%. The presence of the pouch sign yielded corresponding values of 82%, 100%, 100% and 78%. Mid-tracheal bowing was correlated positively with EA. The type of atresia was correctly evaluated in 90% of patients. CONCLUSION: fMRI is useful for the diagnosis of EA through the visualization of the oesophageal pouch or through associated signs such as tracheal bowing. Visualization of the lower oesophageal lumen seems to be a good sign of TEF. KEY POINTS: • Challenges are to improve the prenatal diagnosis of EA and associated malformations. • fMRI is able to diagnose EA through demonstration of the pouch sign. • Tracheal bowing is a promising indirect sign of EA. • Tracheoesophageal fistula can also be suspected thanks to fMRI. • Obstetrical US, fMRI and fetal CT are complementary for assessing associated malformations.

Does a combination of ultrasound, MRI, and biochemical amniotic fluid analysis improve prenatal diagnosis of esophageal atresia?

OBJECTIVE: Prenatal diagnosis of esophageal atresia (EA) remains a challenge. Our objective was to evaluate the combination of sonography, magnetic resonance imaging (MRI), and amniotic fluid biochemical markers in prenatal diagnosis of EA. STUDY DESIGN: A retrospective study of all cases with prenatal suspicion of EA from January 2008 to May 2013 in our regional reference center was carried out. Patients were included if all the three tests were performed. For each test, sensitivity (Se), specificity (Sp), positive predictive value (PPV), and negative predictive value (NPV) were evaluated. Each test was compared using Fisher's exact test. RESULTS: Fifteen patients were referred at a median gestational age of 28(+5) weeks (24-36) for suspicion of EA on the basis of small or non-visualized fetal stomach bubble and/or polyhydramnios. Se, Sp, PPV, and NPV for sonographic pouch sign/MRI/biochemical amniotic fluid were respectively 40/100/100/45.5%, 80/100/100/71.4%, and 90/60/81.8/75%. MRI was the best predictive test (p = 0.007). CONCLUSION: In case of ultrasound prenatal suspicion of EA (with or without visualization of the pouch sign), an MRI at 30-32 weeks using fast imaging employing steady-state acquisition should be proposed. Biochemical amniotic fluid may be helpful and should be evaluated in a larger study.

Epidemiology of esophageal atresia.

Esophageal atresia (EA) is a rare congenital malformation consisting of a lack of continuity between the upper and lower esophageal pouches, frequently associated with tracheoesophageal fistula. The prevalence of such rare abnormalities is established by global birth surveillance programs over the world. EUROCAT is a European program covering 1.7 million births since its creation. The prevalence of EA in Europe seems stable over decades. The National Birth Defects Prevention Network in the USA also shows a stable prevalence with a wide range between states or regions. In France, with the implementation of the national rare diseases plan, a reference center for congenital abnormalities of the esophagus was created in 2006 and a national registry for EA began patient inclusion in 2008. This has resulted in the establishment of the national live birth prevalence for EA, prenatal diagnosis rates, and clinical characteristics of EA patients, early survival, and early morbidity. Prevalence rates seem stable all over the world since many decades. Continuous surveillance of congenital abnormalities and specific registries are useful for epidemiologic data but also for public health authorities for helping families of rare diseases patients.

[Pyeloplasty for pyelo-ureteric junction syndrome in children: lombo-assisted procedure versus lombotomy]. / Pyéloplastie pour syndrome de la jonction pyélo-urétérale chez l'enfant : voie lombo-assistée versus lombotomie.

Surgical treatment of pyelo-ureteric junction syndromes was classically at the child's, a pyeloplasty by posterior way or by lombotomy. For several years, assisted video techniques are proposed for this gesture. The purpose of our study was to compare the lombo-assisted pyeloplasty procedure with the lombotomy procedure, within the framework of this coverage. We made a retrospective study of procedures performed from January 2000 to December 2005, based on a file review of children operated for pyelo-ureteric junction syndrome. Children under the age of 2 years were excluded. Fifty-two children were divided in 2 groups: group 1: 24 children, 7 girls and 17 boys, average age of 86 months (extremes: 27-172) benefited from a lombo-assisted pyeloplasty. Group 2: 28 children, 12 girls and 16 boys, average age of 69 months (extremes: 24-129) benefited from a pyeloplasty by lombotomy. Operating times were significantly shorter in opened surgery than with the lombo-assisted procedure. There was no significant difference in terms of per- or post-operating complication, use of analgesic and hospitalization duration. On the other hand, the lombo-assisted procedure provided the same undisputable aesthetic benefit and the same muscular preservation than pure lomboscopy procedure. As a consequence, this procedure could be set up at no risk for the patient, even if it had lead to longer operating times. However, operating times stayed shorter than with the pure lomboscopy or the celioscopy procedures, compared to the literature.

Prenatal diagnosis of esophageal atresia: A case of triple negative screening.

Esophageal atresia (EA) is prenatally diagnosed in less than one third of the cases and is usually only suspected. Recently, magnetic resonance imaging (MRI) with dynamic sequence and biochemistry of the amniotic fluid have been proposed to enhance prenatal diagnosis of EA. We report the case of a triple negative screening (ultrasound, MRI with dynamic sequence and biochemistry of the amniotic fluid) with a postnatal diagnosis of EA type III with a small defect. Even using second line tests, prenatal diagnosis of EA remains a challenge.

[Necrotizing enterocolitis in two infants with gastroschisis]. / Entérocolite sévère chez deux nourrissons présentant un laparoschisis.

Necrotizing enterocolitis is seldom observed in full-term, or near term newborns. We report on two infants born after 36 weeks of gestation who presented with necrotizing enterocolitis after surgery for gastroschisis. Both patients had been formerly weaned from parenteral nutrition and fed thereafter with hydrolyzed cows' milk protein formula. At the age of 1.5 and 4.5 months respectively, the patients presented clinical and radiological signs of necrotizing enterocolitis. Evolution was favourable under medical treatment (parenteral nutrition, progressive refeeding). Post-neonatal digestive symptoms in a child with gastroschisis should prompt the diagnosis of necrotizing enterocolitis in order to allow an early treatment.

[Outcome of children with repaired oesophageal atresia]. / Atrésie de l'oesophage : devenir des enfants opérés.

Although initial prognosis of oesophageal atresia is nowadays excellent with more than 95% of survival, the long-term complications are frequent. A gastro-oesophageal reflux is found in 26 to 75% of the cases, responsible for peptic oesophagitis, anastomotic stenosis and Barrett's oesophagus, risk factor of adenocarcinoma of the oesophagus. A dysphagia is frequently observed on these patients, sometimes several years after the surgery, observed in almost 45% of five-year-old children. Growth retardation is found in nearly a third of these children. Respiratory symptoms are particularly frequent, especially in the first years, associating tracheomalacia facilitating the bronchopulmonary infectious episodes (found in about 30% of 5-year-old children). Esotracheal fistula recurrence is very rare. A deformation of the rib cage is reported in 20%, and a scoliosis in 10% of the patients. However, the quality of life of these patients in the adulthood is good, and influenced by the existence of associated malformations. Even if the current prognosis of oesophageal atresia is good altogether, the frequency of the complications (digestive, respiratory, nutritional, orthopaedic) far from the initial intervention, and the necessity of a surveillance of the secondary oesophageal damages, justifies a systematic and multidisciplinary follow-up until adulthood.

[Liver hernia. Prognosis and report of 11 cases]. / Les hépatocèles exclusives. Evaluation du pronostic. A propos de 11 observations.

OBJECTIVES: Exclusive hepatocele is defined as a hernia containing in majority the liver with possibly some intestinal loops. This study was undertaken to evaluate neonatal morbidity and mortality in this series of exclusive hepatoceles. MATERIALS AND METHODS: We reviewed 11 cases of exclusive hepatoceles with delivery at the hospital Jeanne-de-Flandre in the CHRU of Lille, in France. RESULTS: The mean gestational age of diagnosis was 14.5+/-3.4 weeks of gestation. Karyotype determination was performed in 100% of cases: it was abnormal in one case of 11. One termination of pregnancy was performed because of trisomy 13. The mean gestational age at delivery was 38+/-1.8 weeks of gestation. Cesarean deliveries were performed in nine cases. Morbidity was important with: one case of fetal growth retardation on total hepatocele, three cases of severe respiratory distress, two cases of severe digestive complications. The mean length of stay was 42.8 days. The mean length of parenteral feeding was 14.4 days. Postnatal mortality concerned one child, which died because of a severe respiratory distress due to pulmonary hypoplasia. CONCLUSION: In this series, morbidity is thus important, making of exclusive hepatoceles a full entity among the omphaloceles. The multidisciplinary take care is more complex but conceivable.

Technical problems and complications of a transanal pull-through for Hirschsprung's disease.

BACKGROUND: The purpose of this study was to evaluate the technical difficulties and complications of a transanal pull-through for Hirschsprung's disease. MATERIAL AND METHODS: This report was based on a multicentric retrospective study of 65 cases. Pull-through procedures were transanal Swenson or Soave procedures in 26 and 39 cases, respectively. RESULTS: Evaluation of the aganglionic level, peri-rectal dissection, and anastomosis were the three steps in the procedure where surgeons encountered difficulties. Such difficulties led to serious complications in 3 cases. A patient with a colon biopsy before the pull-through procedure had a postoperative pneumoperitoneum requiring a second laparoscopy for suture and washing. Another patient had peritonitis due to anastomotic leakage. Finally, a difficult rectal dissection in a neonate led to a urethral injury requiring secondary urethral repair. Only 41 of the 65 patients had no abdominal scars (63 %). CONCLUSION: We considered the transanal pull-through for Hirschsprung's disease to be a reliable technique. Nevertheless, it requires an urethral stent, precise dissection, careful anastomosis and selected indications in order to avoid major complications.

Esophageal tissue engineering: Current status and perspectives.

Tissue engineering, which consists of the combination and in vivo implantation of elements required for tissue remodeling toward a specific organ phenotype, could be an alternative for classical techniques of esophageal replacement. The current hybrid approach entails creation of an esophageal substitute composed of an acellular matrix and autologous epithelial and muscle cells provides the most successful results. Current research is based on the use of mesenchymal stem cells, whose potential for differentiation and proangioogenic, immune-modulator and anti-inflammatory properties are important assets. In the near future, esophageal substitutes could be constructed from acellular "intelligent matrices" that contain the molecules necessary for tissue regeneration; this should allow circumvention of the implantation step and still obtain standardized in vivo biological responses. At present, tissue engineering applications to esophageal replacement are limited to enlargement plasties with absorbable, non-cellular matrices. Nevertheless, the application of existing clinical techniques for replacement of other organs by tissue engineering in combination with a multiplication of translational research protocols for esophageal replacement in large animals should soon pave the way for health agencies to authorize clinical trials.

[Cow's milk protein allergy after neonatal intestinal surgery]. / Allergie aux protéines du lait de vache après chirurgie digestive néonatale.

UNLABELLED: Cases of cow's milk protein allergy have been occasionally reported after neonatal intestinal surgery. AIM OF THE STUDY: To measure the prevalence of cow's milk protein allergy (CMPA) following neonatal intestinal surgery. PATIENTS AND METHODS: The files of all children who underwent intestinal surgery in the neonatal period over a four-year-period were reviewed. The diagnosis of CMPA was made on the association of one or several symptoms suggesting food allergy after the introduction of cow's milk protein in the diet, the disappearance of the symptoms after exclusion of cow's milk protein from the diet and their reappearance after reintroduction of cow's milk protein. RESULTS: During the study period, 251 neonates underwent an intestinal surgery. Among them, 11 babies (4.3%) developed CMPA. None of them had a medical history of family atopy. Moreover, while 5 children were fed with a diet containing cow's milk protein before surgery: none of them presented initially with symptoms suggesting CMPA before intestinal surgery. Small intestine suffering was observed during operation in seven of 11 patients. No specific neonatal digestive disease or malformation was associated with CMPA. The signs revealing CMPA were primarily digestive : diarrhoea (N =3), vomiting (N =4), abdominal distension (N =2), colic or anorexia (N =2). Casein specific immunoglobulin E were present in nine of ten cases, alpha lactalbumin and/or beta lactoglobulin specific immunoglobulin E were present in six of ten cases. Prick test were performed in three children and were positive. CONCLUSION: The high prevalence of CMPA among these patients with no risk factors of allergy raises the question of the role of neonatal intestinal surgery in developing food allergy. These data should be confirmed by prospective case-control studies. They underline the interest to evoke the diagnosis of CMPA when digestive symptoms occur after milk protein introduction in children undergoing neonatal intestinal surgery. Breast feeding or milk protein hydrolysate formula should be used for refeeding these patients.

[Diagnosis and treatment of congenital bronchopulmonary malformations. A review of 32 cases]. / Diagnostic et traitement des malformations bronchopulmonaires congénitales : analyse de 32 observations.

OBJECTIVES: Analysis of our experience and propositions on the diagnosis and treatment of congenital bronchopulmonary malformations (BPM). POPULATION AND METHODS: Retrospective study of BPM diagnosed between 1997 and 2001. Analysis of clinical spectrum, diagnosis tools, treatment, and clinical outcome. RESULTS: Thirty-two cases of BPM have been investigated (11 cystic adenomatoid malformations, 7 pulmonary sequestrations, 7 bronchogenic cysts, 4 congenital lobar emphysema, and 3 complex emphysematous malformations). Nineteen patients had a prenatal diagnosis. For 9 others, symptoms occurred before 4 years of age. Evaluation included a CT-scan in all patients (BPM involution in one). Surgical treatment was performed in 30 patients (lobectomy in 18), with a mean age of 7 months for asymptomatic patients. During the follow-up (mean: 3 years), respiratory symptoms were reported in 10 cases, 3 of them were related to the BPM. DISCUSSION: Improvement in prenatal ultrasound diagnosis modified the management strategy. Considering the risk of pulmonary complications, surgical treatment is required during the first months of life. For congenital lobar emphysema, and some pulmonary sequestrations or small cystic adenomatoid malformations (<3 cm), conservative attitude may be preferred. BPM justify a multidisciplinary management.

[Hyperechogenic fetal bowel: Which fetal and neonatal outcome? A French study of 149 cases]. / Hyperéchogénicité intestinale fœtale : quel bilan proposer et quel pronostic ? À propos d'une série continue de 149 patientes.

OBJECTIVES: In case of hyperechogenic fetal bowel (HFB), invasive procedures such as amniocentesis are often proposed to detect an underlying cause. Our goal is to study etiologies and prognosis of HFB according to antenatal sonographic findings in order to evaluate the relevance of antenatal assessment. MATERIALS AND METHODS: It is a retrospective monocentric study lead from 2008 to 2012, including all patients with a suspicion of HFB on routine sonography. We analysed the antenatal and neonatal results, distinguishing four situations: isolated HFB, HFB+other digestive anomalies, HFB+vascular pathology, HFB+other associated anomalies. RESULTS: For 149 patients, HBF was confirmed. Sixty-nine were isolated HFB, 24 associated with other digestive anomalies, 16 with vascular pathology and 40 with other anomalies. Pregnancy outcomes were different with 92.8, 41.7, 0 and 45.0% of healthy newborns. In the case of isolated HBF, we noted 2.9% cystic fibrosis and 2.9% congenital infection. CONCLUSION: Isolated HBF seems to have a better prognosis than associated forms. However, prenatal investigations to eliminate cystic fibrosis or congenital infection should be offered and may be initially non-invasive, if a larger series confirmed the absence of dyschromosomy in this population.

[Does prenatal diagnosis modify neonatal management and early outcome of children with esophageal atresia type III?]. / Le diagnostic anténatal modifie-t-il la prise en charge néonatale et le devenir à 1 an des enfants suivis pour atrésie de l'œsophage de type III ?

OBJECTIVE: Evaluate neonatal management and outcome of neonates with either a prenatal or a post-natal diagnosis of EA type III. STUDY DESIGN: Population-based study using data from the French National Register for EA from 2008 to 2010. We compared children with prenatal versus post-natal diagnosis in regards to prenatal, maternal and neonatal characteristics. We define a composite variable of morbidity (anastomotic esophageal leaks, recurrent fistula, stenosis) and mortality at 1 year. RESULTS: Four hundred and eight live births with EA type III were recorded with a prenatal diagnosis rate of 18.1%. Transfer after birth was lower in prenatal subset (32.4% versus 81.5%, P<0.001). Delay between birth and first intervention was not significantly different. Defect size (2cm vs 1.4cm, P<0.001), gastrostomy (21.6% versus 8.7%, P<0.001) and length in neonatal unit care were higher in prenatal subset (47.9 days versus 33.6 days, P<0.001). The composite variables were higher in prenatal diagnosis subset (38.7% vs 26.1%, P=0.044). CONCLUSION: Despite the excellent survival rate of EA, cases with antenatal detection have a higher morbidity related to the EA type (longer gap). Even if it does not modify neonatal management and 1-year outcome, prenatal diagnosis allows antenatal parental counseling and avoids post-natal transfer.

Patient profile and effect of dietary therapy on post-transplant hyperlipidemia.

The effect of dietary therapy on the serum lipid profile was examined in 32 post-transplant patients. Patients were transplanted more than 4 months before the study and had stable renal function and no other condition affecting lipid metabolism. Serum lipid profiles were determined on two serum samples obtained after a 12-hour fast. Seventeen patients who had pre-transplant hyperlipidemia (HLP) had similar HLP after transplantation. Of the 14 patients with normal pre-transplant profiles, 9 remained normal and 5 developed HLP. Twelve patients with HLP received out-patient dietary therapy providing less than 500 mg of cholesterol, less than 35% of calories from fat, less than 50% of calories from carbohydrate, and a P:S ratio greater than 1. Maintenance calories were based on the Harris-Benedict standard except for 9 overweight patients who were given less. After 3 months of therapy, serum cholesterol and triglycerides decreased to normal in 8 of 9 patients in whom both were elevated before dietary treatment and were unchanged in one patient. In 3 patients who had normal triglyceride but elevated cholesterol levels before therapy, cholesterol decreased but remained above normal; triglyceride increased in one patient and remained normal in two. High-density lipoprotein cholesterol (HDL-C) increased in all 12 patients and became normal in 11. Body weight fell in 11 of 12 patients receiving dietary therapy. Cholesterol, triglyceride, and HDL-C remained unchanged in 11 patients who did not undergo dietary treatment. Dietary therapy is a safe and effective way to treat post-transplant HLP.

Preliminary arteriovenous fistula for free-flap reconstruction in the diabetic foot.

We present our experience at the American University of Beirut Medical Center with two diabetic patients suffering from large necrotic and infected foot ulcers. Both patients were ambulatory at the time of presentation despite their extensive wounds and were believed to have a useful limb with adequate protective sensation worth saving. Below-knee amputation was prevented in both cases by successful soft-tissue coverage of the ulcers using microvascular composite-tissue transfer a few days after performing a preliminary arteriovenous fistula with a long vein graft loop. The flap vessels were anastomosed end-to-end to the arterial and venous limbs of the divided arteriovenous loop. This reconstructive technique of difficult diabetic wounds of the lower extremity, though in two stages, may be safer than one long procedure in a high-risk patient. It is technically easier than long interpositional vein grafts at the same time as free-flap transfer or microvascular anastomoses with small and diseased vessels. It definitely provides more chance of success as larger vessels are used to supply the flap. It permits distension of the vein graft at normotensive physiologic pressures and allows testing the arterial anastomosis as well as the venous flow before final flap transfer. Above all, it allows extreme freedom in performing tension-free anastomoses away from the infected wound.

Successful management of severe chylothorax with argon plasma fulguration and fibrin glue in a premature infant.

Post-traumatic neonatal chylothorax is a rare entity. Management includes medical and surgical treatment. We describe here a newborn who developed a severe chylothorax after repair of an oesophageal atresia. The chylothorax was treated successfully by a combination of argon beam coagulation of the mediastinum and fibrin glue application. However, the patient developed complete thrombosis of the left femoral vein with clot extension to the inferior vena cava which resolved after infusion of recombinant tissue plasminogen activator (rt-PA). The use of argon plasma coagulation and mediastinal fibrin glue application for treating postoperative chylothorax appears to be attractive and is easy to perform even in small premature infants and may replace a more extensive surgical procedure. However, the coagulation profile should be monitored and special care should be taken to prevent vascular thrombosis after surgery.

Congenital pyloric stenosis: a modified umbilical incision for pyloromyotomy

Thirty-two patients underwent a pyloromyotomy via an umbilical incision; in 11 a modified umbilical approach was used to facilitate delivery of the pyloric mass. Incisions are made in the skin fold of the upper half of the umbilicus and at the midline, joining the two at the top. The skin incision is closed by upper umbilical translocation with a very good cosmetic result. This incision allows easy access to the pylorus and provides more convenient exposure. The absence of traction on the retractors avoids tissue ischemia, which leads to wound abscess development.