EDWARD’S SYNDROME

Overview and Facts

Edward’s syndrome, also referred to as trisomy 18, is an inherited disorder that causes many deformities or defects in the body of infants born with the disease. Infants with this genetic disorder often die early after delivery. Moreover, there is no remedy for this condition. 

In most instances, Edward’s syndrome transpires because of issues during the early development stage or during the growth of the reproductive cells. In addition, the mother’s age can increase the risk of disorder.

Sometimes, not all the cells have additional chromosomes, called mosaic trisomy, and signs in these cases might be less serious. Thus, supportive treatment is needed.

Types and Symptoms

SYMPTOMS

The most common symptoms of Edward’s syndrome include:

  • Structural heart defects
  • Kidney malformations
  • Developmental delays
  • Feeding difficulties
  • Arthrogryposis
  • Esophageal atresia
  • Growth deficiency
  • Intellectual disability

Moreover, some physical deformities of Edward’s syndrome include:

  • Malformed ears
  • Small head
  • Small jaw
  • Cleft palate and lip
  • Widely spaced eyes
  • Rocker bottom feet or clubfoot
  • Clenched hands
  • Upturned nose

If you think you have a bloodline of this disorder, talk to your doctor so that you can secure your baby inside your womb.

Diagnosis & Medications

DIAGNOSIS

The screening for Edward’s syndrome happens in the midst of ten to fourteen weeks of pregnancy. Those individuals who are found to be at risk of acquiring the condition will need to go through a diagnostic test to verify the condition. Moreover, this is executed by examining the cells of the baby for a further copy of trisomy 18.

The two main ways of getting samples of cells include amniocentesis and chorionic villus sampling. Both of these examinations are surgical and have little possibility of miscarriage. There is also a new non-invasive test that works only by getting a blood sample of the mother. Although it is more costly, it is still better than others. 

TREATMENT

There’s no treatment for Edward’s syndrome. The treatment will be focused on the signs and symptoms of the disorder, including infections, breathing difficulties, and heart conditions. Your baby might also need to be fed via a nasogastric tube, as they can usually have trouble feeding. 

You can talk to the doctor for other supportive treatment needed to manage your baby’s symptoms. 

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