Edwards syndrome is an extremely rare genetic condition, which leads to serious medical ailments. Children suffering from this syndrome have 3 copies of chromosome 18 instead of 2 copies in their body cells. This syndrome is also known as Trisomy 18. Generally, a child diagnosed with the condition dies within a few days. In most of the cases, the baby dies shortly after birth. If several organs are damaged, then the fetus may die due to multiple organ failures, in the womb itself leading to a miscarriage.
This syndrome is found to affect the females much more than males. Around nine out of ten affected individuals are females.
Types of Edwards Syndrome
Depending Upon The Severity Of The Syndrome It Can Be Classified In Three Types:
Full Trisomy 18: It is the most common form of Edwards syndrome in which all the cells of the affected humans contain three copies of the chromosome 18.The infants diagnosed with full trisomy 18 generally die within few days of being born. None of them have been historically recorded to cross the age of one.
Mosaic Trisomy 18: This type of Edwards syndrome is characterized by the presence of three copies of the chromosome 18 in only certain cells of the affected individuals. Since it is not present in all the cells of the infant, it is less severe and can be treated to some extent. Its severity is dependent on the number and type of the cells which carry the additional chromosome. The life expectancy is comparatively higher in this type and the affected individuals generally get permanently disabled. Very few of them make it to adulthood.
Partial Trisomy 18: In this type of Edwards syndrome, only a part of the additional chromosome is present in the cells of the individuals. Its severity is dependent upon the size of the extra chromosome present in the cells. This is a rare type of trisomy 18.
How Do People Get Edwards Syndrome?
In a normal human body, twenty-three pairs of chromosomes are present. These chromosomal pairs are inherited from the parent cells. For the individuals suffering from this syndrome, an additional chromosome; chromosome 18 is obtained in the cell after the fertilization process is completed. It is assumed that the syndrome is more prevalent in those pregnancies where the age of the mother is more than forty.
The children born with Edwards Syndrome are underweight and are small when compared to other children of their age. The presence of the extra chromosome leads to the complications in various organs. The symptoms of this syndrome can be:
- They are skinny, and have fragile bones.
- They are generally characterized by a small head with a larger neck base.
- They have low-set ears and do not have prominent jaws.
- They possess malformed ears and a small mouth and hence suffer from the condition of ‘micrognathia’.
Generally, children suffering from the syndrome, have a cleft-palate and are found to close their hands in fists with their index finger hovering over the rest four fingers.
They may possess clubfeet or feet which are webbed or fused together.
- Their blood vessels are found to be malformed as a result of which they may suffer from numerous congenital heart diseases.
- They may even suffer from Atrial Septal Defect, Umbilical Hernia, Ventricular Septal Defect among the many other conditions.
Diagnosis of Edwards Syndrome
Edwards syndrome can be traced right when the child is in the womb. The first few ultrasounds show the presence of the condition and further diagnosis may conclude this syndrome. Apart from the ultrasounds results, potential testing of the mother’s serum can also be carried out to confirm the presence of the syndrome in the fetus. Other tests like Amniocentesis and Chorionic Villus Sampling can also be carried out. For the physical symptoms, a pregnant lady carrying a fetus suffering from Edwards syndrome is found to sport an abnormally large baby bump. This is because the presence of the extra amniotic fluid in the womb increases the size of the uterus. Apart from that, an unusually small placenta is seen during the birth of the child.
In case, it is not possible to locate the presence of the syndrome while the child is still in the womb, the condition can be diagnosed after birth. The syndrome is characterized by the presence of physical abnormalities. Generally, an X-ray is conducted to show arched types finger pattern and shortened breastbone of the affected child.
‘Karyotyping’ is another diagnostic method in which the sample of the infant’s blood is taken for diagnosis. If three pairs of chromosome 18 are found, then the syndrome gets confirmed. By using specific stains and microscopic elements, the presence of the additional chromosome is established.
Prognosis of Edwards Syndrome
Majority of the children born with this syndrome have a lifespan of less than two years. In rare cases, children grow to adulthood. However, they start to develop mental problems past the age of one. Even their verbal communicating ability is affected. They can hardly walk on their own and can grasp only a part of the words spoken to them.
Children who possess Edwards syndrome face troubles while eating as they experience issues related to breathing, eating, swallowing and sucking. They often suffer from Gastroesophageal Reflux Disease which affects their efficiency of swallowing leading to a reflux action which results in vomiting the entire content. Their heads are hyperextended leading to more difficulties while swallowing. It generally leads to their throat getting elongated. If the child’s body is tolerant to high-calorie food, then it should be included in their diet to help them gain the much-needed weight.
Treatment of Edwards Syndrome
Till date, no cure has been found for this syndrome. Moreover, the symptoms which the affected children exhibit, are too difficult to handle. Hence, medication is surely needed to help them deal with the mild symptoms. The allergies and infections which are caused as a consequence of the symptoms, need to be treated immediately.
The children suffering from Edwards Syndrome are bound to experience limb abnormalities are they grow older. Hence it is advised to seek help from a physiotherapist as soon as possible. They may also get benefits from occupational therapy. For the individuals suffering from harsh symptoms, surgery is always an option. However, surgical means of treatment are limited considering the child’s cardiac health and if there are any loopholes present in the surgeries conducted, the lifespan of the child may get shortened.
They may even suffer from constipation as a result of the poor tone of their abdominal muscle. In conditions like these, it becomes more difficult to feed the child. For problems related to feeding, a tube is inserted which transports the food directly into the stomach, thereby preventing the chances of antiperistalsis which is generally caused due to the difficulty faced by them during swallowing of the food. Moreover, special milk formulas, stool softeners, and anti-gas medications can also be recommended by the doctors.
The affected child should not be given Enema under any circumstances, as it leads to the depletion of the electrolyte thereby altering the composition of bodily fluid. The children suffering from this syndrome possess a great threat towards developing Wilms Tumor, which is a form of kidney cancer. Hence a routine abdominal ultrasound needs to be conducted for these children. They may even suffer from conditions like Scoliosis (curvature of the spine) and Esotropia (crossed eyes).
It is largely advised to terminate a pregnancy where the fetus shows the symptoms of Edwards Syndrome within the first six weeks of pregnancy. There is one percent recurrence risk of full trisomy 18, hence genetic counseling needs to be strictly done to prevent this condition in the future.