Edwards syndrome is a chromosomal disorder that can cause significant congenital disabilities and developmental problems in fetuses. An extra copy of chromosome 18 causes it. It occurs in about 1 out of every 4,000 live births, making it relatively rare. However, the effects of Edwards syndrome can be pretty serious, so it is essential to know what to look for if pregnant. This blog post will discuss the symptoms and causes of Edwards syndrome and the treatments available.
What Causes The Edwards Syndrome
Edward syndrome is a chromosomal disorder that is caused by the presence of an extra copy of chromosome 18. This condition is also known as Trisomy 18. There are a few subtypes of Trisomy 18, which include;
- Full Trisomy 18: In this type, all of the chromosomes in the 18th pair are trisomic. Babies with full trisomy 18 have rectal prolapse, where the rectum protrudes from the anus: life-threatening kidney problems, and difficulty feeding. Most babies with Full Trisomy 18 die within the first week of life.
- Mosaic Trisomy 18: In this type, some cells have the full trisomy while others have the standard pair of chromosomes. Babies with mosaic trisomy 18 often have milder symptoms than those with Full Trisomy 18; some may live into childhood or adolescence.
- Partial Trisomy 18: In this type, only a portion of chromosome 18 is present in three copies. Symptoms vary depending on which part of the chromosome is affected. Babies with Partial Trisomy 18 often have a shorter life expectancy than those with Full or mosaic Trisomy 18.
The Edwards syndrome Trisomy 18 occurs in about 1 in every 5,000 births. It is three times more common in girls than it is in boys. Most babies with this syndrome are born with severe congenital disabilities and die within their first year of life.
Effects Of Edwards Syndrome On Fetal Development
If you are pregnant, it is essential to be aware of the effects of Edwards syndrome. These include;
Heart Defects
Heart defects are common in babies with Edwards syndrome. These defects can range from a hole in the heart to problems with the valves or blood vessels that carry blood to and from the heart. Heart defects can cause serious health problems and may require surgery to correct.
Kidney Abnormalities
Babies with Edwards syndrome often have kidney abnormalities. These can include problems with the structure of the kidneys or how they function. Kidney abnormalities can cause serious health problems and may require treatment. Additionally, it could lead to low hemoglobin.
Low Birth Weight
Babies with Edwards syndrome are often born with low birth weight. It is because the syndrome can cause problems with fetal growth and development. In addition, low birth weight can lead to birth defects and health problems in infancy and childhood maternal age.
Intestinal Problems
Babies with Edwards syndrome often have intestinal problems. These can include defects in the intestine’s structure or problems with how the intestine functions. Intestinal problems can cause serious health problems and may require surgery to correct.
Slow Growth In The Womb
Edwards syndrome can cause slow growth in the womb. It can lead to problems with development and may cause the babies born to be small. Slow growth in the womb can also lead to health problems in infancy and childhood. Severe developmental delays are dangerous for an unborn baby. That’s why screening tests are important.
Cleft Palate
Babies with Edwards syndrome often have a cleft palate. It is a congenital disability in which the roof of the mouth does not close properly. A cleft palate can cause problems with feeding and speaking.
Small Head Size
Babies with Edwards syndrome often have a small head size. It is because the syndrome can cause problems with brain development. Small head sizes can lead to learning difficulties and developmental delays.
Physical Characteristics Of Children With Edwards Syndrome
Physical characteristics of children with Edwards syndrome can vary but often include;
- Developmental delays
- Low-set ears
- A small jaw
- A thin upper lip
- Expressive language difficulties
- Feeding difficulties
- Increased risk for infections
Diagnosis Of The Edwards Syndrome
Diagnosing the Edwards syndrome can be made prenatally by fetal karyotyping or postnatally by examining the newborn’s physical features. Prenatal diagnosis is commonly made through chorionic villus sampling (CVS) or amniocentesis. CVS involves taking a small tissue sample from the placenta, while amniocentesis entails withdrawing and testing a small amount of the amniotic fluid surrounding the fetus.
Diagnostic techniques that can be used postnatally include X-ray, ultrasound, computed tomography (CT), and magnetic resonance imaging (MRI). These imaging modalities can help assess the severity of skeletal abnormalities present in an individual with Edwards syndrome.
Diagnosis can also be confirmed through genetic testing, which looks for changes in the chromosome typically affected in Edwards syndrome. At times diagnosis of Edwards syndrome is made based on the symptoms and signs present in the individual. However, because the syndrome is so rare, most doctors will not be familiar with it.Â
Edwards Syndrome Treatments
While there is no cure for Edwards syndrome, there are treatments that can minimize the symptoms and improve the quality of life for those affected by the condition. They include:
Physical Therapy
Physical therapy is one such treatment. Physical therapy can help build muscle strength, improve joint mobility, and increase range of motion. Edwards syndrome often leads to skeletal system deformities, making it difficult for patients to move around.
By working with a physical therapist, patients with Edwards syndrome can learn exercises and stretches to help them stay mobile and reduce pain. Physical therapy can also help improve fine and gross motor skills and increase strength and flexibility. In addition, physical therapy can help babies with Edwards syndrome develop better respiratory function and reduce the risk of scoliosis.
Speech Therapy
Speech therapy is one such therapy that can help Edwards syndrome patients improve their communication skills. Edwards syndrome patients often have difficulty producing correct speech sounds, so speech therapy can help them produce sounds more accurately. In addition, speech therapy can also help Edwards syndrome patients to develop better cognitive and social skills. As a result, speech therapy can be a valuable treatment for Edwards syndrome patients.
Occupational Therapy
Occupational therapy can help to improve the quality of life for individuals with Edwards syndrome. It can assist with daily living activities, such as feeding and dressing, and helps to promote social and emotional development. Edwards syndrome is a progressive condition, so occupational therapy may need re-evaluation as the individual’s needs change over time. However, it can be critical in helping people with Edwards syndrome lead fuller lives.
Early Intervention Programs
There are many types of Edwards syndrome treatments available, and the most effective treatment plan will be tailored to the patient’s specific needs. However, early intervention can help down syndrome patients reach their full potential. In addition, early intervention programs are essential for Edwards syndrome patients because they provide support and resources for patients and their families.Â
Surgery
Surgery is often required to correct heart and other congenital disabilities associated with Edwards syndrome. Sometimes, surgery can also help to improve feeding difficulties and respiratory problems. Another option is renal replacement therapy to treat kidney defects.
Edwards syndrome is a complex condition, and every case is unique. As a result, treatment plans must be tailored to meet the needs of each patient. However, with the proper care and support, people with Edwards syndrome can enjoy a good quality of life. Prenatal and postnatal management is essential and it’s wise to perform non-invasive prenatal testing.
Conclusion
Edwards syndrome is a condition that can cause a variety of problems for those affected by it. However, there are many different treatments available that can help to improve the quality of life for patients. Early intervention programs, occupational therapy, physical therapy, and speech therapy can benefit patients with autosomal trisomy syndrome. In addition, surgery may also be necessary in some cases to correct congenital disabilities or other health problems associated with the condition. However, with the right treatment plan, people with Edwards syndrome can enjoy a good quality of life.
