Around half of all babies born with OA/TOF have other problems. If development of the oesophagus has been disturbed, other organ systems may also be affected.
The main organs investigated immediately after birth are the baby’s heart and digestive tract (intestines), because issues here may require attention quickly (see panels below). Other abnormalities may also be present but these seldom have life-threatening implications.
About half will have other VACTERL abnormalities. It is uncommon for these problems to interfere with repair of the oesophageal atresia but they can cause difficulties later.
The assessment of the baby’s heart will start with a clinical examination.
If the baby is pink (not pale or blue), has normal heart sounds and a normal pulse in the groin, most doctors will accept that no serious heart abnormality is present and will start plans to repair the oesophagus.
If anything abnormal is found while examining the baby’s heart, a more detailed heart scan (an ultrasound scan called an echocardiogram) will be arranged.
Occasionally, a severe abnormality is detected which may require correction before the repair of the oesophagus.
Very rarely, the heart abnormality is so severe that it is incompatible with life, although advances in paediatric cardiac surgery mean that this is now unusual.
Assessment of the digestive tract has two parts:
The doctor will check that the baby has a normal bottom.
This is because a proportion of babies born with oesophageal atresia will also be born without a bottom (an anorectal malformation) which means they cannot poo.
There may be other atresias in the bowel beyond the oesophageal atresia.
Typically, these affect the duodenum (the bowel just beyond
the stomach) but anywhere can be affected. The pattern of gas in the bowel seen during the initial x-rays (when the oesophagus is being assessed) is often the clue that another
atresia is present.
Chromosomes are present within every cell in the body; they are where the DNA is stored. Normally each cell contains 23 pairs of chromosomes, giving a total of 46 chromosomes in each cell.
Children with Down’s syndrome have one extra chromosome (chromosome 21) in each cell. This is known as a trisomy because they have three rather than two copies of a chromosome. In modern practice, a child with Down’s syndrome would be treated no differently from any other child.
However, if a child were to have three copies (trisomy) of chromosome 18 or 13 most doctors are reluctant to start treatment. These trisomies are much more severe in their effects than trisomy 21 and are rarely compatible with life beyond a few days or weeks, usually because of catastrophic heart or brain abnormalities. The best thing to do is to keep the babies comfortable rather than subject them to the pain of futile surgery.
Published by TOFS, The TOF Book is the must have guide for anyone affected by, or caring for someone with OA/TOF.
With contributions from medical experts, the TOF Book contains chapters on every aspect of OA/TOF and VACTERL condition, from infancy to adulthood all presented in an easy-to-understand format.