Table of contents:
- Definition
- What is Edward's syndrome?
- What are the types of Edward syndrome?
- 1. Trisomy 18 is full
- 2. Partial trisomy 18
- 3. Trisomy 18 mosaic
- How common is this condition?
- Signs & Symptoms
- What are the signs and symptoms of Edward's syndrome?
- 1. Microcephaly
- 2. Lower ear position
- 3. The fingers overlap each other
- 4. Heart defects
- 5. Growth and development disorders
- 6. Other conditions
- When to see a doctor?
- Cause
- What causes Edward's syndrome?
- Risk Factors
- What increases your risk of getting Edward's syndrome?
- Medicines & Medicines
- What are the usual tests to diagnose Edward's syndrome?
- Prenatal diagnosis
- Postnatal diagnosis
- What are the treatment options for Edward's syndrome?
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Definition
What is Edward's syndrome?
Edward's syndrome is a birth defect or disorder when there is one additional chromosome in the baby's 18 chromosome pair. The addition of chromosomes in Edward's syndrome is the result of a problem with conception.
Normally, humans have 23 pairs (46) of chromosomes in each cell of their body. The twenty-three pairs of chromosomes consist of 22 pairs of body chromosomes and a pair of chromosomes that determine sex.
However, it is different from a newborn who has Edward's syndrome. Babies with Edward's syndrome have an excess of the 18th chromosome which can occur in some or all of the body's cells.
In other words, the newborn has trisomy (tri = three) 18 and the total number of chromosomes is 47.That is why, Edward's syndrome is a birth defect in babies also known as trisomy 18.
Edward's syndrome is a disorder that occurs due to abnormalities in the number of chromosomes that have occurred since the fetus was still in the womb.
Edward's syndrome is a condition that often results in slow growth of the baby before birth (intrauterine growth retardation) and low birth weight (LBW).
Not only that, babies who have trisomy 18 may also have abnormalities in the heart or other organs before birth.
What are the types of Edward syndrome?
The different types of Edward's syndrome are as follows:
1. Trisomy 18 is full
Full trisomy 18 or full Edward syndrome is a condition that all babies with this birth defect experience. Babies born with trisomy 18 have an additional 18 chromosome in each cell of the body.
2. Partial trisomy 18
Partial trisomy 18 or partial Edward syndrome is a birth defect when a baby has only part of the excess chromosome 18 in its cells but not all of it. This type of trisomy 18 is very rare.
3. Trisomy 18 mosaic
Mosaic trisomy 18 or Edward mosaic syndrome is a birth defect when an excess of chromosome 18 is present in only a few cells of the body. Just like trisomy 18, this type is also rare.
How common is this condition?
According to the U.S National Library of Medicine, trisomy 18 is a congenital birth defect in babies that can occur in about 1 in 5,000 births.
Edward's syndrome is a condition that can be more common than this number. However, many babies with trisomy 18 do not survive until the second or third trimester of pregnancy.
The risks of having a baby born with trisomy 18 can lurk all pregnant women. However, the risk of experiencing a baby with birth defects generally increases when the mother becomes pregnant at old age.
Most babies with this syndrome die while still in the womb or in the first years of life. Babies who die in the womb will later be stillborn (still birth).
A small proportion of patients can continue to grow into adulthood, but must be kept under special supervision because of the many abnormalities in both physical and mental aspects.
Signs & Symptoms
What are the signs and symptoms of Edward's syndrome?
Children with trisomy 18 show various symptoms that can be seen, both when they are babies and when the children are growing.
Most of those born with Edward's syndrome experience various symptoms, namely:
- Difficulty breathing or shortness of breath
- Intellectual impairment
- Experiencing eating problems such as difficulty eating
- Abnormal growth and development
- Boys have undescended testes
Other symptoms of Edward's syndrome in babies
Here are some symptoms that can also be experienced in babies with Edward's syndrome:
1. Microcephaly
Babies born with this disorder have an average smaller head circumference (microcephaly) compared to normal children their age.
This abnormal head size can later affect the child's development and development.
2. Lower ear position
Apart from the size of the head, the position of the ears of the child with this syndrome is also abnormal. In most people, the height of the ears is on average in line with the position of the eyes.
In this syndrome, the position of the ear is below the eye line so it is known as low-set ears.
3. The fingers overlap each other
Finger deformity is one of the hallmarks of this fairly rare syndrome. Abnormalities in baby's fingers with trisomy 18, for example, between overlapping index and middle fingers.
4. Heart defects
A common heart defect in this syndrome is an imperfect dividing wall between the atria or chambers of the heart. This condition is also known as a leaky heart.
5. Growth and development disorders
The life expectancy of babies with trisomy 18 is relatively small. When babies grow into children, there is usually a delay in development and development, when compared to people in general.
In terms of intellect, the average sufferer has mental retardation with IQ below normal and has impaired cognitive development.
6. Other conditions
In addition to the above symptoms, Edward's syndrome can also cause various other physical signs of the baby, such as:
- Cleft palate
- The baby's lungs, kidneys, stomach, or intestines are deformed
- Low or abnormal ear position
- Experiencing severe developmental delays
- There are abnormalities in the shape of the chest
- The baby's growth slows down
- Small jaw (micrognatia)
- Easy to cry and fuss
According to the National Cancer Institute, trisomy 18 usually results in low birth weight for babies.
When to see a doctor?
If you see the baby has the symptoms above or other questions, consult a doctor immediately. The health condition of each person's body is different, including babies.
Always consult a doctor in order to get the best treatment regarding the health condition of your baby.
Cause
What causes Edward's syndrome?
Most cases of Edward's syndrome aka trisomy 18 are due to the presence of three copies of chromosome 18 in the body's cells. In fact, there should only be two copies of the crosomome in each cell of the body.
The addition of a copy to chromome 18 can inhibit or interfere with the development of the baby, causing signs and symptoms of trisomy 18.
Launching from the Health Direct page, the cause of trisomy 18 could be due to an error in the process of forming eggs or sperm.
The cause of Edward's syndrome can also occur when problems arise during the development of the fetus in the womb. While the severity of trisomy 18 depends on the type and number of cells that have excess or extra chromosomes.
The development of a baby with trisomy 18 can range from normal, moderate, to severe.
Risk Factors
What increases your risk of getting Edward's syndrome?
A mother's risk of giving birth to a baby with trisomy 18 is higher if she is pregnant at an old age, for example being pregnant over 35 years of age. The older the mother is, the higher the risk of having a baby with trisomy 18.
On that basis, you are advised to always consult a doctor. Whether it's when planning a pregnancy or during pregnancy to prevent the risk of health problems in babies.
Medicines & Medicines
The information provided is not a substitute for medical advice. ALWAYS consult your doctor.
What are the usual tests to diagnose Edward's syndrome?
This disorder can be diagnosed both while the baby is still in the womb (prenatal) and after birth (postnatal).
Prenatal diagnosis
Detect Edward's syndrome while the baby is still in the womb. The doctor can perform an ultrasound examination to find out the possibility of trisomy 18.
Even so, ultrasound examination is considered not very effective in detecting trisomy 18. Another option can be done by analyzing the amniotic fluid (amniocentesis) and the mother's placenta (chorionic villus sampling).
That way, doctors can find out certain genetic disorders.
Postnatal diagnosis
Meanwhile, when the baby is born the doctor will diagnose trisomy 18 through a physical examination of the face and body.
A blood sample may also be taken to look for chromosomal abnormalities. In addition, a chromosome blood test can also help determine the risk of having a baby with trisomy 18.
What are the treatment options for Edward's syndrome?
Edward's syndrome is a condition for which no cure has been found. This is difficult because this disease is caused by genetic factors so that various kinds of disorders have been formed in the womb.
The available treatments are aimed at supporting child development. The goal is that children can still carry out various daily activities independently.
If you have any questions, consult your doctor for the best solution to your problem.
