Edwards Syndrome (Trisomy 18)

Edwards Syndrome, also known as Trisomy 18, is a severe genetic disorder caused by an extra copy of chromosome 18. It affects various body systems and is associated with developmental delays, congenital disabilities, and a high mortality rate. While rare, this condition profoundly impacts affected individuals and their families. This article provides a detailed overview of the causes, symptoms, diagnosis, treatment, and prognosis of Edwards Syndrome.

What is Edwards Syndrome?

Edwards Syndrome is a chromosomal disorder characterized by the presence of an additional chromosome 18 in some or all of the body’s cells. This genetic abnormality disrupts normal development, leading to serious health problems.

Types of Edwards Syndrome

There are three types of Trisomy 18:

1. Full Trisomy 18 – Every cell in the body has an extra chromosome 18. This is the most severe and common form.
2. Mosaic Trisomy 18 – Some cells have the extra chromosome while others do not, resulting in milder symptoms.
3. Partial Trisomy 18 – Only a portion of chromosome 18 is duplicated, leading to variable symptoms.

Causes of Edwards Syndrome

Edwards Syndrome occurs due to a random genetic mutation during the formation of reproductive cells or early embryonic development. The exact cause is unknown, but it is linked to:

• Maternal age – The risk increases with advanced maternal age (above 35 years).
• Meiotic errors – Mistakes in chromosome division can lead to an extra chromosome 18.
• Genetic predisposition – While not typically inherited, rare cases involve translocation-type Trisomy 18.

Edwards Syndrome symptoms

Babies with Edwards Syndrome experience a range of severe symptoms affecting physical and cognitive development. Common features include:

Physical Symptoms

• Small head, face, and jaw (microcephaly and micrognathia)
• Low-set ears
• Prominent back of the skull (occiput)
• Overlapping fingers and clenched fists
• Clubfoot or rocker-bottom feet
• Congenital heart defects
• Kidney abnormalities
• Respiratory difficulties

Neurological and Developmental Symptoms

• Severe intellectual disabilities
• Poor muscle tone (hypotonia)
• Joint contractures limiting movement
• Difficulty feeding and swallowing
• Seizures

Diagnosis of Edwards Syndrome

Prenatal Diagnosis

Trisomy 18 can be detected during pregnancy through prenatal screening and diagnostic tests:

• Ultrasound – Identifies fetal abnormalities like heart defects and growth restrictions.
• Maternal Serum Screening – Measures hormones and proteins to assess risk.
• Non-Invasive Prenatal Testing (NIPT) – A blood test detecting fetal DNA in the mother’s blood.
• Chorionic Villus Sampling (CVS) and Amniocentesis – Definitive diagnostic tests that analyze fetal chromosomes.

Postnatal Diagnosis

After birth, doctors diagnose Trisomy 18 based on physical examination and confirm it through:

• Karyotype Testing – Analyzes chromosome structure.
• Fluorescence In Situ Hybridization (FISH) – Identifies specific chromosomal abnormalities.
• Microarray Analysis – Detects small genetic variations.

Treatment and Management of Edwards Syndrome

There is no cure for Edwards Syndrome, and treatment focuses on symptom management and supportive care.

Medical Interventions

• Neonatal Care – Immediate support for breathing and feeding difficulties.
• Cardiac Management – Surgery for congenital heart defects in select cases.
• Gastrointestinal Support – Tube feeding for infants with swallowing difficulties.

Therapies and Supportive Care

• Physical Therapy – Helps improve muscle strength and movement.
• Occupational Therapy – Supports daily activities and feeding skills.
• Palliative Care – Enhances the child’s quality of life and comfort.

Prognosis and Life Expectancy

Edwards Syndrome is a life-limiting condition with a high mortality rate. Prognosis depends on the severity of complications.

• 50% of infants do not survive beyond the first week.
• Less than 10% of children reach their first birthday.
• Mosaic and partial Trisomy 18 cases may have a longer life expectancy with milder symptoms.

Coping and Support for Families

Families caring for a child with Edwards Syndrome need emotional and medical support.

• Genetic Counseling – Helps parents understand risks and future pregnancies.
• Support Groups – Provides connection and shared experiences with other families.
• Hospice and Palliative Care – Ensures comfort-focused care for affected children.

Edwards Syndrome (Trisomy 18) is a challenging genetic condition with serious health implications. While there is no cure, early diagnosis and comprehensive care can help improve quality of life. Families facing this diagnosis should seek medical guidance, support networks, and counseling to navigate the journey.

To consult a Pediatrician at Sparsh Diagnostic Centre, call our helpline number 9830117733.

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