Trisomy 18 is a rare genetic disorder in which a baby is born with an extra copy of chromosome 18. This chromosomal abnormality is also called Edwards’ Syndrome.

How does it happen?

A healthy person inherits 23 pairs of chromosomes from their biological mother and father. A boy inherits X chromosomes and Y chromosomes, whereas a girl inherits two X chromosomes from the parents. If there is an abnormal number of chromosomes, it can cause a trisomy/ chromosomal abnormality. Generally, it happens by chance due to an error in the cell division process during embryonic development.

Trisomy 18 risk factors:

• Advanced maternal age/ paternal age can increase the risk of having a baby with Edwards’ syndrome.
• Having a family history of chromosomal abnormalities increases the risk by 1 percent.

There are three types of Edwards’ syndrome. They are:

• Full Edwards’ syndrome: The extra chromosome 18 is found in all cells of the body. This type of trisomy 18 is severe and can impact the intellectual capabilities of the child.
• Partial Edwards’ syndrome: Only a part of the extra chromosome is found in the cells of the body. In this case, the extra part may be attached to another chromosome at the time of embryonic development. This type of Trisomy 18 only affects 1% of all cases.
• Mosaic Edwards’ syndrome: This extra chromosome 18 is found only in some cells of the body. The severity of the symptoms depends on the number of cells that have a chromosomal abnormality. This type of Trisomy 18 affects 5% of all cases.

Trisomy 18 Symptoms

Usually, babies with Edwards’ Syndrome are small, frail, and have a weak cry. The following are the list of symptoms:

• Facial abnormalities:

-Deformed ears

-Head, jaw and facial features appear smaller than normal

-Cleft lip

-Feeding problems

• Skeletal Abnormalities:

-Crossed legs

-Deformed feet

-Clenched fists

-Short breastbone

• Organ deformities:

-Heart defects (More than 90% of Edwards’ syndrome cases are also diagnosed with congenital heart defects)

-Lung, kidney, intestinal defects

-Breathing difficulties

• Neurological symptoms:

-Underdeveloped brains

-Fluid retention in the brain

-Seizures

These symptoms can cause learning disabilities and other developmental delays in children affected by Edwards’ Syndrome. Such babies require specialized care from medical experts. If you are looking for a second opinion on your child’s diagnosis, schedule an online consultation with the city’s top endocrinologists to get expert medical advice from the comfort of your home.

Diagnosis & Treatment

Early detection is crucial to managing Edwards’ syndrome. Once the expected child/newborn baby is diagnosed with Edwards’ syndrome using a range of tests, the doctor will suggest various treatment plans. However, do remember that there is no single cure for this disorder.

Treatments include:

• Managing symptoms (arranging feeding tubes, surgery for heart defects, etc. )
• Supportive treatment (physiotherapy, occupational therapy, etc.)
• Emotional Support (regular mental well-being therapy, participating in support groups, etc. )

It is imperative to have regular follow-ups with a doctor to ensure that your child is on the right track towards living a healthy life. Book an online consultation with top endocrinologists online on MFine to receive expert medical advice on Edwards’ Syndrome anytime, anywhere.