In November, a team of pediatric surgeons in Oklahoma performed the state’s first thoracoscopic surgery to repair esophageal atresia. The surgical team included Nikola K. Puffinbarger, M.D., pediatric surgery, and chief residents Beth Terry, M.D., and Nate Kreykes, M.D. It is estimated that worldwide, the procedure has been performed by fewer than 200 surgeons. Esophageal atresia is a lethal condition that occurs when a baby’s esophagus has not developed properly and does not connect to the baby’s stomach. As a result, the baby has no way to receive adequate nourishment. The condition occurs in about one in 4,000 babies. According to David W. Tuggle, M.D., section chief, Pediatric Surgery, about eight cases are seen here annually.

Adults with a history of esophageal atresia repair during infancy face a substantially higher risk of scoliosis, according to research published online Nov. 9 in Pediatrics.

Saara J. Sistonen, M.D., of the Helsinki University Central Hospital in Finland, and colleagues analyzed data from 100 adults surgically treated for esophageal atresia during infancy. All underwent physical and radiographic examination.

The researchers found that 56 subjects had scoliosis greater than 10 degrees, and 11 had scoliosis greater than 20 degrees. The risk of scoliosis greater than 10 degrees was 13 times higher in these subjects than the general population. Furthermore, 45 patients had vertebral anomalies, typically in the cervical spine. Having additional physical anomalies — such as limb anomalies or the combination known as VACTERL — was associated with a higher risk of vertebral anomalies.

“The risk of scoliosis is 13-fold after repair of esophageal atresia in relation to the general population. Nearly half of the patients have vertebral anomalies which predominate in the cervical spine. Most of these anomalies were not diagnosed during initial treatment period or during growth. Spinal surgery is rarely indicated. Although the natural history of spinal deformities in patients with esophageal atresia seems rather benign, clinical screening of scoliosis at the time of prepubertal growth spurt may be justified,

Just a quick update is all I have time for my hands are tied with Lucian. He is not doing so well since yesterday. I was really hoping he would take off like he did this last time. He did so awesome but not the case at all. He has been vomiting anything we give him right back out. I believe it is because he is so open. The problem we are running into is keeping him from getting dehydrated, He hasn’t been able to keep hardly anything we have give in him down and it is not a pretty picture. I truly believe if we did not have the thal nissen we would be in bad shape. He is so lifeless and all he wants to do is lay on t he floor an when you pick him up he just lets his head fall on your arm so I haven’t seen him like this in a very very long time. I am hoping this is just a small slump and we will get passed it on our own.

The GOA project (Genetics of Oesophageal Atresia) is based in Cambridge, at Addenbrooke’s Hospital and the Wellcome Trust Sanger Institute (a specialist genetics research centre).

Project lead Dr Charles Shaw-Smith has a particular interest in Oesophageal Atresia and related birth defects. Families of children born with OA/TOF (or adult individuals who were born with OA/TOF) will be able to participate in his research project.

The GOA project is funded by The Wellcome Trust, TOFS and the Addenbrooke’s Hospital Charities Committee.

Dr Shaw-Smith spoke at the 2007 TOFS Conference in Birmingham, and reports on both his talk and workshop were published in the Winter 2007 issue of Chew.
What causes Oesophageal Atresia?

Oesophageal Atresia (OA) is a congenital anomaly occurring in approximately 1 in every 3,500 births, usually in association with Tracheo-Oesophageal Fistula (TOF). Babies born with OA/TOF require corrective surgery and follow-up at a specialist paediatric surgical centre. It is not known what causes isolated Oesophageal Atresia (where OA/TOF is a child’s only birth defect). Data from family studies suggests that genetic factors do NOT play a major role. This is supported by the observation that where Oesophageal Atresia occurs in twins, most frequently only one of the pair is affected.

Around half of all the children born with Oesophageal Atresia also have other anomalies however; this is termed ‘Syndromic Oesophageal Atresia’. Most commonly the other problems are those described within VACTERL association, in which the child has three or more of the following anomaly groups:

* Vertebral (spine) problems
* Anal (back passage) problems
* Cardiac (heart) problems
* Tracheal (airway) problems
* Esophageal (American spelling of oesophageal) problems
* Renal (kidney) problems
* Limb problems (usually but not always affecting the bones of the forearm)

No specific gene has been associated with VACTERL. However, there are other syndromes which involve Oesophageal Atresia for which genes have been identified.

These include:

* Feingold syndrome: microcephaly (small head), digital anomalies (commonly affecting the 2nd and 5th fingers or the toes) and atresias of the gastro-intestinal tract, associated with defects in the gene N-MYC.
* CHARGE syndrome: Coloboma (a specific eye defect), Heart problems, Atresia choanae (a narrowing of the airways at the back of the nose), Retarded growth, Genital hypoplasia (defects in the sex organs) and Ear abnormalities, associated with defects in the gene CHD7.
* Anopthalmia-Esophageal-Genital syndrome (AEG): a rare condition involving the combination of Anophthalmia (no or very small eye(s)), Esophageal and Genital problems, associated with defects in the gene SOX2.

Additionally, certain chromosomal disorders are associated with Oesophageal Atresia. Chromosomes are the structures into which genes are grouped together (see photo below). There are normally 46 chromosomes in every healthy human cell, which are arranged in pairs. Sometimes abnormalities can arise in the structure of chromosomes, and this can be associated with problems. The most well-known chromosomal defect associated with Oesophageal Atresia is Down’s Syndrome (Trisomy 21, where there are three copies of chromosome 21 instead of the normal two) but also Trisomy 13 and Trisomy 18. Isolated cases have also been described with more subtle chromosomal imbalances.
The Genetics of Oesophageal Atresia (GOA) project

This project aims to look in detail at the genetics of Oesophageal Atresia, using a two-stranded approach:
1. Human studies

The gene defects associated with Syndromic Oesophageal Atresia were so recently identified that we don’t yet know how common they are. This is important to know because if an individual has faulty copies of these genes then they may pass the defect on to their children. We are screening samples for defects in a small panel of genes by literally decoding the information held in DNA to see if it differs from the normal sequence (this is called gene sequencing).

Also, no attempt has been made to systematically look for more subtle chromosomal defects in this patient group. We are using a recently developed laboratory technique (called arrayCGH) which is able to detect much smaller changes than the techniques currently used in clinical genetics laboratories.

We are keen to collect DNA samples and clinical information from suitable individuals. Results from tests will be fed back to families, potentially providing them with valuable information about the cause of a child’s problems and risks of recurrence in future children. Families will also be able to participate in a project which we hope will result in more accurate information about the causes of Oesophageal Atresia being available in future.

The following type of individual is most suitable for our study:

* Oesophageal Atresia/Tracheo-Oesophageal Fistula patient with features often associated with a chromosomal disorder: unusual facial features (dysmorphism), growth abnormalities or learning disability/developmental delay.
* VACTERL patient (with or without OA/TOF) with unusual facial features (dysmorphism), growth abnormalities or learning disability/developmental delay.
* Patient with OA/TOF and a family history of OA/TOF

The following patients are not suitable for our study:

* Patient with isolated Oesophageal Atresia
* VACTERL patient with normal growth, development and learning.

Would you like to take part?

If you are interested in taking part, or have any questions about the study, please feel free to contact us. If you live in the UK, the route into the study is via your local/regional Clinical Genetics Service http://www.gig.org.uk/services.htm (ask for a referral from your paediatric consultant or GP) who can review your family history and advise you both before sending samples for our study and on receipt of the results. A research study information sheet and consent form will be given to you and, if they have not already been taken and banked, blood samples (to provide us with a DNA sample for testing) will be required.
Research Clinic

Dr Charles Shaw-Smith is also holding a research clinic four times a year at Addenbrooke’s Hospital in Cambridge – families are very welcome to attend.
2. Laboratory-based studies

We are carrying out laboratory work at the Wellcome Trust Sanger Institute to further characterise the specific genes involved in Oesophageal Atresia and related anomalies. Recently developed genetic techniques enable us to manipulate certain areas of the mouse chromosome in order to determine the effects of removing or duplicating specific genes. This work is critical in helping to identify the exact genes involved in congenital abnormalities including Oesophageal Atresia.
Note to referring clinical geneticists

We are always happy to receive queries about the suitability of patients for inclusion in this study. Please email Charles Shaw-Smith [css@sanger.ac.uk] or Vicki Martin [vicki.martin@addenbrookes.nhs.uk]. Participating families/individuals will be asked to read an information sheet and sign a consent form. Clinical information may be provided by completion of a customised study proforma, or potentially by a detailed clinic letter.
Further information

* Chew, Winter 2007 – summary of Dr Charles Shaw-Smith’s talk and workshop at the 2007 TOFS Conference
* Audio files of Dr Shaw-Smith’s talk and workshop at the 2007 TOFS Conference
* Audio file of Dr Shaw-Smith’s talk at the 2005 TOFS Conference
* Review article by Dr Charles Shaw-Smith http://jmg.bmj.com/cgi/content/full/43/7/545
* GOA Project web page associated with the Molecular Medicine Unit of the Institute of Child Health, University College London: http://www.ich.ucl.ac.uk/ich/academicunits/MMU/CustomMenu_01

The GOA team

Dr Charles Shaw-Smith
Wellcome Trust Intermediate Clinical Fellow
Wellcome Trust Sanger Institute/Honorary Consultant in Clinical Genetics, Addenbrooke’s Hospital, Cambridge
TOFS Patron
Email: css@sanger.ac.uk

Mekayla Storer
Research Assistant (based at the Wellcome Trust Sanger Institute)
Based at the Wellcome Trust Sanger Institute

Vicki Martin
Research Assistant (based at Addenbrooke’s Hospital, Cambridge)
Former TOFS Trustee and Editor of the TOFS newsletter, Chew; Vicki was herself born with OA/TOF as part of VACTERL association.
Based at Addenbrooke’s Hospital, Cambridge

Esophageal strictures are a problem commonly encountered in gastroenterological practice and can be caused by malignant or benign lesions. Dysphagia is the symptom experienced by all patients, regardless of whether their strictures are caused by malignant or benign lesions. The methods most frequently used for palliation of malignant esophageal strictures are stent placement (particularly in patients with an expected survival of 3 months or less) and brachytherapy (in patients with a life expectancy of more than 3 months). Brachytherapy has been shown to be beneficial in patients with an expected survival of longer than 3 months with regard to (prolonged) dysphagia improvement, complications and quality of life. The mainstay of benign esophageal stricture treatment is dilation. Although dilation usually results in symptomatic relief, recurrent strictures do occur. In order to predict which types of strictures are most likely to recur, it is important to differentiate between esophageal strictures that are simple (i.e. focal, straight strictures with a diameter that allows endoscope passage) and those that are more complex (i.e. long (>2 cm), tortuous strictures with a narrow diameter). These complex strictures are considered refractory when they cannot be dilated to an adequate diameter. Novel treatment modalities for refractory strictures include temporary stent placement and incisional therapy.

The mainstay of treatment for benign esophageal strictures is dilation. Although dilation usually results in symptomatic relief, recurrent strictures do occur. In order to predict which types of strictures are most likely to recur, it is important to differentiate between esophageal strictures that are simple and those that are more complex.

Simple esophageal strictures are defined as focal and straight, and most have a diameter that is sufficient to allow the passage of a normal diameter endoscope. These strictures are amenable to the standard technique of bougie or balloon dilation. Common etiologies include peptic injury (60-70% of cases), but also a Schatzki’s ring or a web. In most patients with simple esophageal strictures, 1-3 dilations are required to relieve symptoms, with an additional 25-35% of patients requiring repeat dilations.

Strictures that are long (>2 cm), tortuous, or associated with a diameter that precludes passage of a normal diameter endoscope are defined as complex esophageal strictures. The most common causes include caustic ingestion,radiation injury, anastomotic stricture, photodynamic therapy-related stricture and severe peptic injury. The latter can occur in patients in the intensive care unit or in mentally disabled people. Complex esophageal strictures are more difficult to treat than simple esophageal strictures, require at least three dilation sessions to relieve symptoms, and are associated with high recurrence rates. If complex strictures cannot be dilated to an adequate diameter allowing passage of solid food, recur within a time interval of 2-4 weeks, or require ongoing (more than 7-10) dilation sessions, they are considered to be refractory. Novel treatment modalities for refractory strictures include temporary stent placement and incisional therapy Three types of dilators are currently in use. These include bougies filled with mercury or tungsten (e.g. Maloney dilators [Medovations, Inc., Germantown, WI]), wire-guided polyvinyl dilators (e.g. Savary-Gilliard® [Wilson-Cook Medical]) and Through-The-Scope (TTS) balloon dilators (Controlled Radial Expansion [CRETM] dilation balloon, with or without guidewire [Boston Scientific]). Of these, the Savary-Gilliard® and TTS balloon dilators are currently by far the most frequently used. The main difference between these two dilators is their mechanism of action. A Savary-Gilliard® dilator exerts a radial force as it is passed down, but some of its dilating force is transmitted longitudinally because of its shearing effects. By contrast, longitudinal forces are not transmitted with balloon-type dilators. Nonetheless, no clear advantage has been demonstrated for either one of these two dilator types.The only exceptions include conditions in which a longitudinal shearing force should be avoided, such as strictures caused by epidermolysis bullosa, or in cases in which a tracheoesophageal puncture voice prosthesis is present. Savary-Gilliard® dilators are more cost-effective as they can be reused, whereas TTS balloon dilators are intended for single use only.

The main complications associated with esophageal dilation include perforation, hemorrhage and bacteremia. The reported rate of perforation and massive bleeding is 0.3%: this risk is higher when complex strictures and caustic strictures are dilated. It is generally believed that the risk of perforation is minimal if the ‘rule of three’ is applied, meaning that dilation diameters should not increase by more than 3 mm per session. Pre-dilation diameter and stricture length are established factors that influence the number of dilations required for symptom relief and the need for additional dilations.

Various investigators have examined whether the injection of steroids into the stricture can prevent recurrence of dysphagia. Most of these studies, however, were, small, uncontrolled and involved strictures with a diverse etiology. One randomized trial has been published in full. A total of 30 patients with recurrent peptic stricture were randomly allocated to TTS dilation to 15-18 mm followed by 4-quadrant 0.5 cm triamcinolone injections (40 mg/cm3) or to TTS dilation to 15-18 mm alone. After a follow-up of at least 1 year, two patients in the steroid group (13%) and nine in the sham group (60%) required repeat dilations. This finding suggests that steroid injections could have a role in patients with recurrent peptic strictures after prior dilation therapy. The utility of intralesional injections for strictures with a different etiology needs further elucidation.

Complex Strictures. Circular or nearly circular benign esophageal strictures are most frequently seen after radiation therapy for malignancies in the chest, head or neck. Most of these strictures are amenable to dilation, although fluoroscopic guidance is often required to monitor guidewire passage through the stricture. Endoscopic management of these strictures can, however, be challenging, particularly when a guidewire cannot be advanced, which sometimes occurs in the proximal esophagus. In these cases, an ‘endoscopic rendezvous’ approach can be employed. This is accomplished by introducing a smalldiameter endoscope through a mature PEG tract and advancing it in a retrograde fashion into the esophagus until the stricture is identified. In some patients, the guidewire, be it stiff or floppy, can be passed through the stricture, but in others a thin membrane is present that precludes its passage. In these patients, the guidewire, or a needle knife, can be used to puncture the membrane. The puncture should be aided by a second flexible endoscope or rigid laryngoscope approaching the stricture in an antegrade fashion. Subsequently, the stricture is dilated over the guidewire using a balloon dilator (retrograde) or Savary-Gilliard® dilator (antegrade). As these post-radiation strictures need repeat dilations, a nasogastric feeding tube should be placed to maintain luminal access for future dilations.
Stents

It is not surprising that the successful application of metal stents for the palliation of esophageal malignancies indicated that there might be a role for these devices in the management of recurrent benign strictures. In the initial clinical series of patients with benign esophageal strictures refractory to conventional therapy, however, the partially uncovered self-expandable metal coil stents used were associated with some major complications.The most common of these complications was the ingrowth of (benign) granulation tissue through the stent mesh as a reaction to the radial force placed by the stent onto the esophageal wall, and this ingrowth started to occur as early as 2-6 weeks after stent placement. This ingrowth of granulation tissue resulted in recurrent obstruction in up to 40% of patients.

To prevent recurrence due to ingrowth of granulation tissue, the completely covered Polyflex® stent made of silicone and polyester was evaluated in three retrospective series.[40-42] In the first two series, the experience was favorable. In one series, relief of dysphagia occurred in 17 of 21 patients (81%) after a median follow-up of 21 months, especially in those with caustic and hyperplastic (due to partially covered stent placement) strictures;in the other series, relief occurred in 12 of 15 patients (80%) with caustic, post-radiation, anastomotic or peptic strictures after a median follow-up of 22.7 months. No complications were mentioned in the first series, whereas in the other study recurrent dysphagia was seen in 33% of patients, which was due to mucosal hyperproliferation in four patients and stent migration in one patient.

Less optimistic results on Polyflex® stents have since been reported. Holm et al.[42] placed 84 Polyflex® stents in 20 patients, most with benign or anastomotic strictures. Migration was the most frequent complication, noted in 18 of 29 patients (62%) and for 53 of 83 stent placements (64%). In addition, hyperplastic tissue growth and stricture formation around the stent was seen in 5 patients (17%) after 15 procedures (18%). Remarkably, only 5 of 83 procedures (6%) resulted in long-term symptom relief after stent removal, which is in line with the experience at my institution.

The management of patients who have refractory hypopharyngeal strictures after chemoradiation and/or surgery can be unsatisfactory as normal diameter stents placed in this location can cause a foreign body sensation, severe pain, fistula formation or perforation. Patients with refractory hypopharyngeal strictures who have undergone stent placement sometimes end up with a feeding tube, but experience difficulties in degutting saliva. To prevent the need for a feeding tube and to allow patients to eat, a cervical Niti-S stent was developed that has a body diameter of 10 mm, 12 mm or 14 mm. This stent is available with or without a flare that is 2 mm wider than the body diameter and is covered or uncovered. This stent effectively improved dysphagia in a small series of seven patients.[43] As six of the seven patients developed stent migration and/or granulation tissue ingrowth or overgrowth, additional new stents were placed a median of 3 months after the previous stent placement. Hypopharyngeal strictures have a high recurrence rate, and prolonged stent placement with periodic stent exchanges at intervals of 6 weeks to 3 months is, therefore, indicated.

In conclusion, Polyflex® stents have originally been advocated to be a promising stent type for the treatment of complex benign strictures. However, recent experience has questioned this optimistic view and further studies are required to select the most optimal patient population. Apart from stent migration, another disadvantage of using Polyflex® stents is that the stent applicator is large and stiff compared with the applicators used for metallic stents. Dilation before stent placement is, therefore, often required. Another drawback to using Polyflex® stents is the need to load the stent into the introduction catheter to avoid prolonged folding of the stent and prevent it from becoming deformed. For these reasons, at my institution we also use metal stents, particularly partially covered Ultraflex™ stents, to treat benign esophageal strictures, and retrieve the stents 4-6 weeks after placement. In our experience, Ultraflex™ stents have the advantage that they are less likely to migrate than Polyflex® stents. For patients with complex hypopharyngeal strictures, my group prefers to use the modified Niti-S stents. In our experience, the best results can be obtained with the 10 or12 mm cervical Niti-S stent types that are flared and fully covered.

A recommended technique of stent removal is to grasp the nylon loop that is attached to the proximal end of most stents. This decreases the stent diameter and facilitates pulling the stent out. Yoon et al.[44] designed a special hook to grasp this loop and to remove the stent under fluoroscopic control. Although they reported that this technique was successful in the removal of 127 of 130 stents (98%), it is the experience at my institution that these loops quite often break during stent removal. We therefore prefer to grasp the proximal end of the stent with a polyp snare, or a rat-toothed forceps if a fully covered type of stent, such as the Polyflex® stent, has been used. Partially covered stents, such as the Ultraflex™ stent, can be removed more easily by grasping the distal end of the stent with rat-toothed forceps, which will result in invagination of the stent into itself.
Incisional Therapy

Refractory anastomotic strictures that occur after gastrointestinal surgery are common, with a reported incidence of 2-30%.[23,45,46] Anastomotic strictures usually are secondary to tissue ischemia, leakage or radiation therapy.[23,45] As an alternative to repeat dilation therapy, incisional therapy using electrocautery,[47] argon plasma coagulation in combination with electrocautery,[48] or endoscopic scissors[49] have been reported to be successful in patients with anastomotic strictures. In the largest reported series,[47] 20 patients with persisting anastomotic strictures after three endoscopic dilations were treated with a session of needle knife electrocautery until the endoscope could easily pass the stricture (Figure 6). Twelve patients who had a stricture shorter than 1 cm were free of dysphagia after a single treatment. In the remaining eight patients who had a stenosis of 1.5-5 cm, a mean of three electrocautery sessions was required for them to become symptom free. No complications such as perforation and hemorrhage were observed. In patients with recurrent Schatzki’s rings, the same technique was also reported to be moderately successful after a median of three endoscopic dilations.[50] These results show that in patients with a firm fibrotic stricture, such as can be found at an anastomotic site, incisional therapy could be a safe alternative treatment modality in cases refractory to endoscopic bougie or balloon dilation.

Esophageal atresia is frequently associated with other predictable anomalies and prematurity. The management of esophageal atresia will vary according to the size and vigor of the baby, the severity of complicating anomalies, and the distance between the 2 esophageal ends. Surgical repair is not urgent, since the infant can be maintained by sump suction of the proximal esophagus to prevent aspiration of mucus and by gastrostomy or jejunal feedings. When associated anomalies or pulmonary complications have been resolved, the definitive repair is performed. If there is a long distance between the esophageal ends, it is usually possible over a period of time to bring the 2 ends close together by bougie stretching and by performing a series of esophageal myotomies. Complications that should be anticipated following repair include anastomotic stricture, recurrent tracheoesophageal fistula, esophageal dysmotility, tracheomalacia, and gastroesophageal reflux with aspiration, impaired caloric intake, and esophagitis.

in infants with repaired esophageal atresia or tracheoesophageal fistula (EA/TEF) are attributed conventionally to tracheomalacia. In the current study, the authors tested the hypothesis that a retrodisplacement of the tongue (glossoptosis), by causing a functional upper airway obstruction (obstructive apnea/hypopnea), may play a role in the pathogenesis of the respiratory problems. METHODS: The records of 5 infants with repaired EA/TEF and respiratory symptoms treated by glossopexy, which serves to anchor the tongue forward, were reviewed. Prompt improvement after glossopexy in clinical manifestations, in blood gas exchange, and in weight velocity was used to establish a primary cause-effect relationship between glossoptosis and respiratory problems. RESULTS: Before glossopexy, all infants presented with severe respiratory distress. Three infants had life-threatening events requiring recurrent or chronic airway intubation. Four infants had severe tracheomalacia, diagnosed at bronchoscopy. All infants presented obstructive apnea/hypopnea with desaturation. Body weight was below the third percentile in all infants. After glossopexy, 3 presented a marked clinical improvement associated with significant increase in mean oxygen saturation (88% +/- 0.4 SE v 95% +/- 0.3 SE; P <.001). In another infant, glossopexy allowed permanent decannulation but did not relieve the problem during crying or excitement when obstructive hypopnea with desaturation required supplemental oxygen. After glossopexy and despite subsequent aortopexy, the last infant could not be extubated and died later of mycotic sepsis. Autopsy results showed a vascular ring. In the 4 surviving infants, glossopexy was followed promptly by significant catch-up growth and subsequent normal growth velocity (P =.03). CONCLUSIONS: Present findings support the concept that, in some infants with EA/TEF, respiratory problems are mainly caused by recurrent obstructive apnea/hypopnea, which may be treated successfully by lip-tongue adhesion procedures. Severe airway obstruction, not relieved by glossopexy, requires aortopexy to reduce the respiratory load imposed by tracheomalacia.

During a period of two decades, 1972-1991, 303 patients with esophageal atresia and/or tracheo-esophageal fistula were treated at the department of Pediatric Surgery, SMS Medical College, Jaipur, India. More than half of our patients fall into Waterston’s risk category C. To evaluate the improvement in the results, the patients were divided into four phases of 5 years each. Over the period of observation, the incidence of new cases as well as the number of associated anomalies has considerably increased. With time, more patients are being diagnosed and referred early for treatment. This has resulted in more patients being treated by primary repair with or without a gastrostomy. Extrapleural approach and single layer end-to-end anastomosis has been practiced in all cases. Results have shown a steady improvement primarily because of early recognition, improved perioperative care, and newer antibiotics. Although postoperative pulmonary complications and anastomotic leak have shown a decreasing trend, but the presence of severe associated anomalies, pulmonary complications and sepsis still remain the major killers in our set-up. Although the results may not match those from the developed countries, the authors still have come a long way, improving the overall survival rate of 4.6% in 1972-1976 to 45.7% in 1987-1991

What is tracheoesophageal fistula?
Tracheoesophageal fistula is an abnormal connection in one or more places between the esophagus (the tube that leads from the throat to the stomach) and the trachea (the tube that leads from the throat to the windpipe and lungs). Normally, the esophagus and the trachea are two separate tubes that are not connected.

Tracheoesophageal fistula is also known as TE fistula or simply TEF.

TE fistula is a birth defect, which is an abnormality that occurs as a fetus is forming in the mother’s uterus.

When a baby with a TE fistula swallows, the liquid can pass through the abnormal connection between the esophagus and the trachea. When this happens, liquid gets into the baby’s lungs. This can cause pneumonia and other problems.
What is esophageal atresia?
TE fistula often occurs with another birth defect known as esophageal atresia. The esophagus is a tube that leads from the throat to the stomach. With esophageal atresia, the esophagus does not form properly while the fetus is developing before birth, resulting in two segments; one part that connects to the throat, and the other part that connects to the stomach. However, the two segments do not connect to each other.

Since the esophagus is in two segments, liquid that a baby swallows cannot pass normally through the esophagus and reach the stomach. Milk and other fluids cannot be digested if the esophagus does not connect to the stomach.

If a TE fistula is also present, liquid that a baby swallows can pass through the connection between the esophagus and the trachea and go into the lungs. This can cause pneumonia and other problems.
What causes tracheoesophageal fistula and esophageal atresia?
As a fetus is growing and developing in its mother’s uterus before birth, different organ systems are developing and maturing. The trachea and the esophagus begin developing as one single tube. At about four to eight weeks after conception, a wall forms between the fetus’ esophagus and trachea to separate them into two distinct tubes. If this wall does not form properly, TE fistula and/or esophageal atresia can occur.
How often do these problems occur?
About one in 4,000 to 5,000 babies in the United States is born with one or both of these problems. Actually I did the math and it is 6 babies a day in north America and 27 a day all over the world.