Oesophageal atresia and tracheo-oesophageal fistula

This is a rare birth defect: the oesophagus never formed as a continuous tube. Its upper part ends in a blind pouch and does not join the stomach, while the lower part usually opens where it should not — into the windpipe. That connection is called a tracheo-oesophageal fistula. A newborn with this defect cannot swallow even saliva, air from the airway passes into the stomach, and stomach juice makes its way into the lungs the other way round. The problem is recognised in the first hours of life and put right by an operation, and most of these children go on to grow up leading ordinary lives.

What exactly has gone wrong

The oesophagus and the windpipe form in the embryo from one and the same tube, which around the fifth or sixth week of pregnancy should divide in two. If that separation is incomplete, a passage is left between the two, and the oesophagus itself may end up interrupted.

There are several forms, and the form determines both the picture and the size of the operation.

• Most often the upper part of the oesophagus ends blindly and the lower part is joined to the windpipe. The great majority of cases take this shape.
• Less often the oesophagus is interrupted with no fistula at all. The gap between the ends is then usually wide, and the oesophagus cannot be repaired straight away.
• Separate again is a fistula without atresia: the oesophagus is whole, but a passage runs between it and the windpipe. Such a baby is not picked up on the maternity ward because they swallow. Coughing and choking at every feed, particularly on liquids, and repeated chest infections in the first year are what raise the suspicion.

How it is noticed

Sometimes it is suspected before birth. An ultrasound scan shows polyhydramnios — more amniotic fluid than usual, because the baby is not swallowing it as they should — and the stomach may be hard to see. But excess fluid has a dozen other causes, and a routine scan often misses this defect: a normal picture on the screen rules nothing out.

So the decisive part happens after birth. What raises the alarm:

• copious frothy saliva at the mouth and nose that has to be suctioned again and again;
• bouts of coughing, choking and turning blue at the very first attempt to feed;
• laboured breathing and a distended abdomen from air passing into the stomach through the fistula.

A baby with these signs must not be fed until the doctors have sorted it out: the milk would go into the lungs.

Why it happened

The exact cause is not known. It is not the result of anything a mother did or failed to do during pregnancy, and there is nothing to blame yourself for.

Something else matters more: oesophageal atresia rarely comes alone. In roughly half of these babies other birth defects are found — of the heart, the kidneys, the spine, the rectum and the bones of the forearm. Doctors call that combination the VACTERL association and look for it deliberately rather than by chance. That is why in the first days a baby has an echocardiogram, an ultrasound scan of the kidneys and abdomen, an X-ray of the spine, and an examination of the perineum. Knowing about a heart defect before an anaesthetic is essential.

The chance of another child in the same family being born with this defect is very small. Where there are several defects, or similar cases among relatives, the family is offered an appointment with a geneticist.

How the diagnosis is made

Confirming it is simple and quick. A thin tube is gently passed through the nose or mouth and an attempt is made to advance it into the stomach. With atresia the tube meets the blind end about ten centimetres down and goes no further. An X-ray follows: on it the tube is seen coiled in the upper pouch. Air in the stomach and bowel on that same film says there is a fistula between the lower oesophagus and the windpipe; no air says there most likely is not.

The tube and the X-ray are the investigation that makes this diagnosis. Examination, listening to the chest and watching a feed do not stand in for it, and trying the baby with a drink «to see what happens» is dangerous. A barium study is not needed when the atresia is obvious and carries a real risk, because the contrast would go into the airway. It is sometimes used in a different situation, when a fistula without atresia is being looked for; it is then done in a particular way and under a specialist's supervision. Before operating, the surgeon may look inside the windpipe with a bronchoscope to find the mouth of the fistula precisely.

The operation

Beforehand the baby is admitted to the neonatal intensive care unit, the head of the cot is raised, a tube is placed in the upper pouch to draw off saliva continuously, and feeding goes through a vein.

The operation itself is done under a general anaesthetic. The surgeon enters the chest on the right side between the ribs, or makes several small cuts and works with a camera if the baby is strong enough. The fistula between the oesophagus and the windpipe is tied off and divided, and the ends of the oesophagus are sewn to each other. That join is called an anastomosis, and much of what follows depends on it.

If the gap between the ends is wide, they cannot be joined at once. The surgery is then split into stages: a gastrostomy is made — a tube into the stomach through the wall of the tummy, so the baby can be fed — and several weeks or months are allowed for the oesophagus to grow. There are also techniques for drawing the two ends towards one another. In the hardest cases the missing stretch is replaced with a segment of stomach or bowel.

The first weeks after the operation

The baby stays in intensive care, in an incubator. Depending on their condition they may need:

• a ventilator for the first days;
• a drain in the chest to let out air and fluid;
• oxygen;
• pain relief, which is prescribed as an ordinary part of the treatment;
• antibiotics.

Feeding is by vein at first and then through a thin tube passed into the stomach. After about a week the join is checked for leaks, and if all is well feeding by mouth begins. Babies usually go home once they are feeding by mouth and gaining weight, which most often takes one to three weeks, and longer where the repair was staged.

The operation carries its own risks, explained in advance: leakage at the join, narrowing of the anastomosis, the fistula reopening, and — as with any surgery — bleeding and infection. Each of these can be dealt with, though another procedure may be needed.

At home: feeding and warning signs

Feeding is advised with breast milk or formula, unhurried, in a semi-upright position and with pauses; afterwards the baby is held upright for a while rather than laid down straight away. Solid food is introduced later and more cautiously than usual, starting with smooth, even textures, because lumps lodge at the join more readily than in other children.

See a doctor soon if your child chokes or coughs at every feed, brings back undigested food, feeds worse and more slowly than before, is not gaining weight, catches chest infections often, or has developed a ringing barking cough or noisy breathing.

Help is needed immediately, without waiting for an appointment, if the child turns blue or goes limp while eating, if breathing becomes hard and noisy, or if they have choked and cannot swallow even saliva, which runs out of the mouth. That last one means a piece of food is stuck in the oesophagus and has to be removed in hospital. In such cases call an ambulance; across most of Europe the number is 112.

What comes later

Most children grow and develop normally after the operation. Even so, the oesophagus is never quite ordinary again, and some of the difficulties stay with a person for years.

• Narrowing at the join. The commonest consequence. It shows itself as food that stops and sticks, choking on solid food, heavy drooling and a refusal to take lumps. It is treated by stretching the narrowed part, a procedure that sometimes has to be repeated.
• Acid coming up from the stomach into the oesophagus. Also common; managed with positioning, diet and acid-lowering medicines, occasionally with surgery. It should not be left alone: reflux keeps the narrowing going and irritates the airway.
• Tracheomalacia. The wall of the windpipe where the fistula used to be is softer than normal, so breathing can be noisy and the cough ringing and barking. This usually settles as the child grows.
• Repeated chest infections and asthma-like bouts of coughing and wheezing.
• Difficulty swallowing. The oesophagus pushes food along less well, so chewing thoroughly, eating slowly and washing food down stay useful habits for life.

Specialist follow-up runs for years and does not end at discharge. Adults who had this operation as babies should keep their oesophagus in mind and tell their doctors about it — it changes how heartburn is managed and what is done about a piece of food that gets stuck.

Online consultation with a doctor

A remote appointment suits parents at every stage except the acute one. Before surgery, to make sense of the words in a report, of how the preparation goes and of what will happen next. After discharge, to go over the feeding routine, the rate of weight gain, when and how to start solids, to discuss treatment of reflux, and to work out which signs call for urgent help and which can wait for a planned appointment. An adult operated on in infancy can get help here reading old discharge letters and settling on a sensible approach to heartburn and swallowing trouble.

What it does not replace: examining a newborn, an X-ray, stretching a narrowing, endoscopy. If a child turns blue while feeding, is struggling to breathe, or has choked and cannot swallow saliva, what is needed is an ambulance, not a message.

This material is for information only and does not replace medical advice.