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EDWARD’S SYNDROME

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EDWARD’S SYNDROME

Edward’s syndrome is a rare but serious genetic disorder in babies that causes a wide range of severe medical problem.

  • The majority of people with this syndrome die within the fetal stage or shortly after being born.
  • Some babies with less severe types do survive beyond a year, and very rarely they survive into adulthood but may suffer from severe physical and mental disabilities.
  • Also known as trisomy 18, Edward’s syndrome is characterized by a wide range of abnormalities involving the brain, heart, kidneys, stomach, and craniofacial structures.
  • The syndrome occurs in about one of every 5,000 live births.
  • Some studies suggest that around 80% of those that survive to birth are female.
  • Women who are older than age 30 are at greater risk of bearing a child with the syndrome, although women who are younger than 30 may also be affected.

CAUSES

The cells in the human body are made up of 23 pairs of chromosomes which carry the gene inherited from both parents. Genes always come in a pair with one originating from the mother (Maternal gene) and the other originating from the father (Paternal gene).

In Edward’s syndrome, a baby has three copies of chromosome 18 (referred to as trisomy), instead of the usual two copies.

The development of the extra chromosome is rarely inherited and is not caused by anything the parent has done. Rather, it happens at random during the formation of the reproductive cells or during early development.

The presence of this extra chromosome in the cells severely affects normal development.

A baby may have full trisomy, where the extra chromosome is in every cell in the baby’s body and this is the most common type of trisomy 18.  Ninety-five percent of children with Edward’s syndrome have this type.

In partial trisomy, only a portion of the extra chromosome is present in the cells. This type is a rare form of Edward’s syndrome and occurs in about 2% of all cases.

In mosaic trisomy, the extra chromosome 18 is present in only some of the cells. Some babies may only be mildly affected while some can be severely disabled. Around 7 in 10 babies with this type of Edward’s syndrome will live for at least a year and, in rare cases may survive into early adulthood.

 

SYMPTOMS

Children born with the condition may have some or all of these symptoms:

PHYSICAL MALFUNCTIONS SUCH AS:
  • Low birth weight
  • A small jaw and mouth
  • A cleft lip and palate
  • A small, abnormally shaped head
  • A low-set malfunctioned ear
  • Widely spaced eyes
  • Smooth feet with rounded soles
  • Undescended testicles in male
  • Underdeveloped thumbs and/or nails
  • A short breastbone

Other symptoms may include:

  • Kidney malfunctions
  • Structural heart defects at birth
  • Feeding problems
  • Hernias in the wall of their stomach
  • Intellectual disability
  • Developmental delays
  • Growth deficiencies
  • Breathing problems.

DIAGNOSIS AND TREATMENT

Pregnant women are offered screening for the condition between 10 and 14 weeks of pregnancy to assess the chances of their baby having the condition. This is usually offered to women over 35 years of age as the chances of a baby having this condition increase with the mother’s age.

This screening is known as the combined tests. A blood test and a special ultrasound scan where the fluid at the back of the baby’s neck is measured is used during this test.

If the result of the combined test shows a higher risk of a baby having Edward’s syndrome, a diagnostic test will then be carried out to confirm if the baby has the condition. This can be done while the baby is in the womb using chorionic villus sampling, which collects a sample of the placenta, or amniocentesis, which collects the sample of the amniotic fluid from around your baby. These tests have a risk of miscarriage, the doctor will discuss these risks with you.

If the doctor suspects the condition after birth based on the child’s face and body, a blood sample can be taken to check for chromosome abnormality.

 

TREATMENT

There is no cure for the condition. Treatment options consist of supportive care to provide the child with the best quality of life possible.