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Essay on Edwards Syndrome


Edwards syndrome is a genetic disorder in babies or young children caused by adding a third copy of part or all of chromosome 18. Edward syndrome, commonly known as trisomy 18, affects most of the bodies of young babies, and many are born with heart defects or small in size (Taylor-Phillips et al., 2016). And in most cases, the chance of the baby being born is so low many dies before they are born, and others die after birth. Those who survive may live up to five years before they are born, and the number is so low out of 100 children with Edwards syndrome; 13 survive till they are born, and many of these numbers die before their first birthday. It is a dangerous abnormality that can take parents’ joy away after the time they expected to spend with their daughter or son is cut very short. Though Edwards syndrome is not hereditary, and they are no way it can be prevented, there are increased chances of parents having a child with the syndrome if they had a child with Edward’s syndrome before. This calls for more testing during pregnancy to look for any abnormality in the baby. Causes, types, awareness to parents, diagnosis, and treating Edwards syndrome are essential information to have while managing the disorder.


Each individual carries 23 pairs of chromosomes inherited from the parents during fertilization, where each parent produces 23 chromosomes to a total of 46 chromosomes per cell. A human has 46 chromosomes which prevent any abnormalities from happening to the young babies before they are born. Edward’s syndrome occurs when instead of 2 copies of chromosome number 18, the baby has 3 of those copies. This happens in rare chances when either the egg or sperm changes before the baby is entirely conceived in the mother’s womb. The syndrome is not based on heredity, and anybody can have a child with Edward syndrome, but the chances tend to increase with the mother’s age. This may increase with the mother being above 35 years of age or having a miscarriage or a child with Edward’s syndrome before. Edward’s syndrome may occur most of the time due to changes in the mother egg, but that does not mean she or the father is responsible for the happening of the syndrome.


Partial Edward’s syndrome

This happens when babies have a section or part of the extra chromosome in their bodies, which is a rare case to happen, and only 1 out of 100 children end up getting the partial type of syndrome (Robert et al., 2016). Also known as partial trisomy due to the extra chromosomes existing partially and is greatly determined by the type of the baby cells where chromosome 18 is present.

Mosaic Edward’s syndrome

Here the chances are minimal though they tend to increase when compared to the partial type, they increase to 1 out of 20 babies. Mosaic only a few cells are affected with the extra chromosome 18. The danger of the syndrome will depend on the type of cells attacked by the extra chromosome and what function it plays in the child’s whole body or any other individual. Most babies born with this type of syndrome can leave to past one year, while a small percentage can even leave to adults.

Full Edward’s syndrome

This is the most typical of the syndrome, which happens in many children where all the cells are affected by the extra chromosome 18. The abnormalities and symptoms are many here as this is the most dangerous and severe type of the syndrome, which kills many children. The babies with the complete Edward’s syndrome do not survive till they are born, and many die before birth. Those who leave till birth, in most cases, die within the 1st week.

Creating awareness

Awareness of a disorder or syndrome in the medical sector should be created to prevent any tension and panic among the parents who find themselves in such conditions. This is important in ensuring the situation can be handled. There is no need for any tension as that is even more dangerous than Edward’s syndrome or any other disease that may lead to the loss of both the children and the mother (Galdzicki & Siarey, 2003). This awareness helps prevent any discrimination directed to the parents or the children as that cause can lead to severe mental health issues. It is the responsibility of any medical physician or practitioner to create awareness against any perceived myths or beliefs surrounding any diseases or medical conditions. Parents should know babies with syndromes may have many health issues and even learning disabilities, but the best will always be to help the baby adapt well even with such severe conditions. The more the problems associated with the baby, the more it calls for more special needs, which the parents should prepare to give to their baby when they are born. The babies tend to have many physical symptoms and are underweight. And also, cases of having respiratory, heart, kidney, or gastrointestinal conditions are very high.

However, no matter all these dangerous conditions posed by the syndrome, children still have a chance to survive if they are born by learning slowly to adapt and having a better life. Parents should be prepared to find the child’s best care prescribed by the doctors to keep them healthy and avoid many children’s struggles leading to their early death. Parents should not think that the baby will die in months or years to come as this can even lead to a lack of care hence causing early death (Zwemer & Bianchi, 2015). Parents should enjoy the time with their babies without any discrimination or thinking of early death as, after all, it is God who decides the lives one will have on the earth before their death. Parents should be aware that the child we live like any other child and eventually have their character, learning pace, and having unique and essential things to their lives no matter how different they are to others. Our bodies can adapt to any conditions for us to survive, no matter how severe the conditions are, and it is through adaptation we can live for a long time, solving every problem that we came against on our way. The same case will happen to babies with the syndrome, and parents should not be so worried about the future, and the young child can adapt and survive for so long t5han even the healthy person no matter the health conditions they have at a young age. Discrimination can be the worst thing to happen to the parents and the young ones. They both deserve care and love. The government should always be aware of the situation and help by providing exemplary service to the family.

Screening and diagnosis

During the 10 and 14 weeks of pregnancy, parents are given a chance to be screened for any Edward’s syndrome in their unborn child, looking for abnormalities connected with the syndrome. The process will also help determine whether the child has any conditions that need any attention. This test is also commonly known as the combined test as it is designed to look for different diagnoses (Kroes et al., 2014). The test will scan for Patau’s syndrome, Down’s syndrome, and Edward’s syndrome all at once hence the name combined test. The test includes an ultrasound scan whose purpose is to measure the fluid located on the back of the child’s neck, known as nuchal translucency, and the other test will be a blood test of the mother. The parents should be careful with all the scans required in their 20-week scan as some are down at a specific time, and it is risky if the conditions were not noticed due to lack of attention to attend clinic clan. The fluid on the back of the neck cannot be measured past 14 weeks, which calls for careful attention from the parents. The scans are essential in monitoring the baby’s growth process and noticing complications early enough to help solve them and relieve any pain they might be going through. However, scanning may not decide the effects or the type of Edward’s syndrome the baby has. Other tests are amniocentesis and chorionic villus sampling, which determine health and genetic conditions. The aim is to keep the baby safe.


Though there is no cure for Edward’s syndrome, many forms of treatment are conducted to many the life of the babies more livable and increase their survival chances. Given that the syndrome is severe, the children are treated with care and comfort. However, this form of treatment differs from one child to another, depending on the severity of the diagnosis. This treatment might include; Cardiac treatment, which aims at treating the heart problems the young one might be facing, as with the syndrome, the chances are high. Though not all babies will require heart surgery, a good number will need it for survival and pain reduction. The other form of treatment is assisted feeding, where children who have many difficulties are fed by a feeding tube and sometimes machines. This mainly occurs due to delayed physical growth before they are born. Feeding tubes are highly used even to assist regular patients with eating problems and highly help children affected by the syndrome. The third is an orthopedic treatment that mainly targets solving spinal cord issues that may lead to problems with movement due to diagnosis like scoliosis. This treatment involves surgery or bracing to rectify any movement complication resulting from an infected spinal cord. The other necessary treatment is psychosocial support, which aims to cope with Edward’s syndrome complication and maybe any loss of a child. This is set in place to support people mentally to provide the proper care to their children.


Pregnant mothers should always contact physicians and doctors to inform health and life threats during pregnancy. When pregnant with a baby with Edward’s syndrome, the case or loss of pregnancy or miscarriage is very high. It is highly advisable always to alert the doctors if any threats are visible or experienced (Szabat, 2020). These symptoms and signs may include; lower back pain, cramping, chills, abdominal pain, and heavy bleeding during pregnancy, leading to health complications like a miscarriage. Though this does not call for any tension, parents should always value their mental health during pregnancy to provide the required help to the unborn child. Also, this care happens when the baby is born, as they should protect it at all costs. And the symptoms that may call for medical help are; the baby has trouble eating, a fast heartbeat, quick or slow breathing, all the body parts are swelling, and when the skin or lips are turning purple or blue. This calls for the quickest medical attention possible, and it is advisable to call 911 or the emergency room.


Winning the war against childhood disorders is all about providing the best care possible, and the same happens in cases of Edward’s syndrome. The medical sectors work day and night to help people with any health conditions live the best life possible, even those with incurable diseases. And that calls for parents with children affected with the syndrome to look for the best health care possible to relieve their children any pain they might be going through. Discrimination directed at any child with health disorders or their parents should be well fought off to prevent further mental health conditions. The government should set up the proper medical support for these young ones and their parents.


Galdzicki, Z., & J. Siarey, R. (2003). Understanding mental retardation in Down’s syndrome using trisomy 16 mouse models. Genes, Brain and Behavior, 2(3), 167-178.

Kroes, I., Janssens, S., & Defoort, P. (2014). Ultrasound features in trisomy 13 (Patau syndrome) and trisomy 18 (Edwards syndrome) in a consecutive series of 47 cases. Facts, Views & Vision in ObGyn, 6(4), 245.

Roberts, W., Zurada, A., Zurada‐ZieliŃSka, A., Gielecki, J., & Loukas, M. (2016). Anatomy of trisomy 18. Clinical Anatomy, 29(5), 628-632.

Silberberg, A., Robetto, J., Grimaux, G., Nucifora, L., & Moreno Villares, J. M. (2020). Ethical issues about the paradigm shift in the treatment of children with trisomy 18. European journal of pediatrics, 179(3), 493-497.

Szabat, M. (2020). Parental experience of hope in pediatric palliative care: Critical reflections on an exemplar of parents of a child with trisomy 18. Nursing Inquiry, 27(2), e12341.

Taylor-Phillips, S., Freeman, K., Geppert, J., Agbebiyi, A., Uthman, O. A., Madan, J., … & Clarke, A. (2016). Accuracy of non-invasive prenatal testing using cell-free DNA for detection of Down, Edwards and Patau syndromes: a systematic review and meta-analysis. BMJ open, 6(1), e010002.

Zwemer, L. M., & Bianchi, D. W. (2015). The amniotic fluid transcriptome as a guide to understanding fetal disease. Cold Spring Harbor perspectives in medicine, 5(4), a023101.


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