Edwards syndrome is an highly rare genetic condition , which lead to serious medical ailments . kid suffering from this syndrome have 3 written matter of chromosome 18 instead of 2 copies in their body jail cell . This syndrome is also known as Trisomy 18 . Generally , a child diagnosed with the condition dies within a few days . In most of the grammatical case , the baby dies presently after giving birth . If several organ are damaged , then the fetus may die due to multiple organ failure , in the womb itself leading to a miscarriage . This syndrome is come up to affect the female person much more than males . Around nine out of ten touch individual are females .
Types of Edwards Syndrome
look 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 sham mankind contain three copy of the chromosome 18.The infants diagnose with full trisomy 18 mostly die within few days of being bear . None of them have been historically recorded to crossbreed the historic period of one .
Mosaic Trisomy 18 : This type of Edwards syndrome is characterized by the mien of three copy of the chromosome 18 in only certain cells of the sham individual . Since it is not present in all the cells of the baby , it is less severe and can be treated to some extent . Its severity is dependent on the number and type of the cadre which acquit the extra chromosome . The life expectancy is comparatively higher in this type and the unnatural individuals generally get for good disabled . Very few of them make it to adulthood .
Partial Trisomy 18 : In this type of Edwards syndrome , only a part of the extra chromosome is present in the cells of the person . Its rigourousness is drug-addicted upon the size of the additional chromosome present in the prison cell . This is a rarefied type of trisomy 18 .
How Do People Get Edwards Syndrome?
In a normal human torso , 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 find in the prison cell after the fertilization outgrowth is completed . It is assumed that the syndrome is more prevalent in those maternity where the age of the female parent is more than forty .
The children born with Edwards Syndrome are underweight and are small when compared to other children of their historic period . The presence of the extra chromosome leads to the complications in various harmonium . The symptom of this syndrome can be :
Generally , children suffering from the syndrome , have a crack - palate and are found to close up their hands in fists with their index digit hover over the residuum four finger . They may have clubfeet or groundwork which are webbed or fused together .
Diagnosis of Edwards Syndrome
Edwards syndrome can be traced decently when the nestling is in the uterus . The first few sonography show the presence of the status and further diagnosing may conclude this syndrome . aside from theultrasoundsresults , likely examination of the female parent ’s serum can also be carried out to confirm the mien of the syndrome in the foetus . Other tests like Amniocentesis and Chorionic Villus Sampling can also be carry out . For the physical symptom , a pregnant lady carrying a fetus suffer from Edwards syndrome is found to romp an abnormally large infant jut . This is because the presence of the excess amniotic fluid in the uterus increase the sizing of the womb . aside from that , an remarkably modest placenta is seen during the birth of the child .
In cause , it is not potential to locate the mien of the syndrome while the nipper is still in the womb , the status can be diagnosed after parturition . The syndrome is characterized by the presence of forcible abnormalities . mostly , an X - ray is conducted to show arching types finger pattern and shortened sternum of the affected kid .
‘ Karyotyping ’ is another diagnostic method in which the sample of the baby ’s rake is take for diagnosing . If three pairs of chromosome 18 are plant , then the syndrome gets confirmed . By using specific stains and microscopic element , the mien of the additional chromosome is established .
Prognosis of Edwards Syndrome
Majority of the children wear with this syndrome have a life-time of less than two years . In rare cases , small fry grow to adulthood . However , they set out to rise mental problems past the eld of one . Even their verbal communicating power is affected . They can hardly take the air on their own and can grasp only a part of the dustup address to them .
Children who possess Edwards syndrome look problem while eating as they experience subject relate to respiration , feeding , swallowing and sucking . They often suffer fromGastroesophageal Reflux Diseasewhich affects their efficiency of swallowing leading to a reflux action which results in vomiting the intact content . Their heads are hyperextend leading to more difficulty while swallowing . It in general leads to their throat getting elongated . If the child ’s body is resistant to high - nutritionist’s calorie food , then it should be include in their diet to aid 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 baby exhibit , are too difficult to handle . Hence , medicament is surely require to help them deal with the meek symptoms . The allergies and infection which are do as a event of the symptoms , need to be treated directly .
The children suffer from Edwards Syndrome are obligate to experience tree branch abnormalcy are they produce old . Hence it is advise to assay help from a physical therapist as soon as possible . They may also get welfare from occupational therapy . For the individuals suffering from coarse symptoms , surgery is always an option . However , operative means of handling are confine considering the child ’s cardiac wellness and if there are any loophole present in the surgeries conducted , the life-time of the tiddler may get shortened .
They may even ache from constipation as a result of the pathetic step of their abdominal muscularity . In condition like these , it becomes more difficult to fee the nipper . For problems tie in to feeding , a tube is infix which carry the food directly into the stomach , thereby preventing the chance of antiperistalsis which is generally caused due to the difficulty confront by them during swallow of the solid food . Moreover , special milk formula , stool softeners , and anti - gas medications can also be recommend by the doctors .
The affected tiddler should not be given Enema under any circumstance , as it leads to the depletion of the electrolyte thereby neuter the composition of bodily fluid . The children ache from this syndrome possess a great scourge towards produce Wilms Tumor , which is a variety of kidney cancer . Hence a routine abdominal sonography needs to be carry for these minor . They may even suffer from stipulation like Scoliosis ( curvature of the backbone ) and Esotropia ( crossed eyes ) .
It is largely advised to end a pregnancy where the foetus shows the symptom of Edwards Syndrome within the first six weeks of pregnancy . There is one percent recurrence risk of full trisomy 18 , hence inherited counseling needs to be strictly done to prevent this condition in the future .
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