A genetic disorder known as Edwards syndrome (trisomy 18) results in physical growth delays in foetuses. Children with Edwards syndrome have a limited lifespan because of the condition’s multiple potentially fatal complications. If they make it past their first year of life, children may have serious intellectual disabilities.
Who is affected by trisomy 18 (Edwards syndrome)?
Anyone can be impacted by Edwards syndrome. An extra copy of chromosome 18, which is erratic and unpredictable, causes the condition. The probability that a parent will give birth to a child with it rises with the age of the mother at conception. A parent is unlikely to have another child diagnosed with Edwards syndrome if they become pregnant again after having a child with the condition (no more than 1%).
Symptoms
Trisomy 18, also known as Edwards syndrome, is characterised by severe developmental delays or learning difficulties, poor growth both before and after birth, and multiple birth defects. Both during and after your pregnancy, you may experience symptoms.
Pregnancy-related symptoms of trisomy 18 (Edwards syndrome)
During a prenatal ultrasound, your healthcare provider will check for the following indications of trisomy 18 (Edwards syndrome):
- hardly any foetal activity at all.
- one artery in the cord that surrounds your body.
- a tiny placenta.
- birth defects.
- there is excessive amniotic fluid surrounding your foetus (polyhydramnios).
While trisomy 18 most frequently results in a miscarriage during the first three months of pregnancy or a stillborn baby, an Edwards syndrome diagnosis can result in a live birth.
After birth, characteristics of Edwards syndrome
Following birth, your child most likely exhibits the following physical traits associated with Edwards syndrome (trisomy 18):
- reduced tone of the muscles (hypotonia).
- ears positioned low.
- internal organs (heart and lungs) developing or changing in function.
- problems with cognitive development, often quite serious (intellectual disabilities).
- fingers that overlap or clubfeet.
- tiny in terms of size (head, mouth, and jaw).
- feeble wail and scant reaction to noise.
Severe trisomy 18 symptoms associated with Edwards syndrome
Due to the underdeveloped bodies of children with Edwards syndrome, the condition’s side effects can be extremely dangerous and even fatal. These consequences include:
- kidney disease and congenital heart disease (present at birth).
- abnormalities in breathing (respiratory failure).
- problems with the stomach and abdominal wall as well as birth abnormalities.
- hernias.
- scoliosis.
Heart problems impact almost 90% of children with Edwards syndrome, and they are the primary cause of infant mortality among those with the condition, second only to respiratory failure.
Causes
Edwards syndrome is caused by having three copies of chromosome 18 rather than the usual two (trisomy 18).
There are 46 chromosomes in humans, which split into 23 pairs. Your body uses its chromosomes, which contain your DNA, as an instruction manual to determine how to form and function. Your parents each give you one set of chromosomes.
In the reproductive organs, cells begin as a single fertilised cell (eggs in females and sperm in males). During meiosis, cells split into pairs by replicating one another. With 23 chromosomes out of 46, the copy of the cell has half the DNA of the original cell. Every chromosome pair is assigned a number.
Chromosome pairs are meant to divide during the formation of eggs and sperm, but occasionally they may not (perhaps because they are too sticky), in which case both copies will remain in the egg or sperm. Those two copies combine with one from the other parent during fertilisation to create a total of three copies. It is unforeseen and random to have an incorrect number of chromosomes, and it is not caused by anything the parents did prior to or during the pregnancy.
A trisomy is when a cell has three copies joining a pair. Three bodies is what trisomy means. A person with a diagnosis of Edwards syndrome has a third copy of chromosome 18 in their cells.
Treatment
The illness is frequently so bad that newborns who survive are given comfort care. However, each child’s treatment for Edwards syndrome is different depending on how severe their diagnosis is. Trisomy 18 or Edwards syndrome has no known cure.
It may be treated with the following:
Treatment for cardiac issues: Nearly all cases of Edwards syndrome involve cardiac issues. While some babies with Edwards syndrome-related cardiac issues may be candidates for surgery, not all of them will be.
Assisted feeding: Due to their delayed physical development, children with trisomy 18 (Edwards syndrome) may have difficulty eating normally. After your baby is born, you may need to get a feeding tube to help with early feeding issues.
Orthopaedic care: Children with trisomy 18 (Edwards syndrome) may experience scoliosis or other spinal abnormalities that affect their ability to move. Orthopaedic therapy may entail surgery or bracing.
Psychosocial support: You, your family, and your child with Edwards syndrome can all get support, particularly when it comes to adjusting to your child’s complicated diagnosis or grieving the loss of a child.
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