Edwards' Syndrome

Introduction
Edwards’ syndrome, also called as trisomy 18, is a rare condition, which is characterized by an abnormal pair of chromosome 18. Edwards’ syndrome results due to non-disjunction, which occurs during meiosis. In babies with Edwards’ syndrome, the chromosome 18 occurs in triplicate instead of the usual pair, which severely affects the overall development of the body.

Types Of Edwards’ Syndrome
Mainly, three types of Edwards’ syndrome have been reported.

  • Full Trisomy 18: This is the most common type of Edwards’ syndrome, where the extra chromosome is present in every cell of the body.
  • Partial Trisomy 18: The baby bears only the part of the extra chromosome, which may be attached to another chromosome in the cell.
  • Mosaic Trisomy 18: This is a very rare form of Edwards’ syndrome. In this type, the extra chromosome is present in some of the cells of the body.

Epidemiology
Edwards’ syndrome is one of the most common autosomal trisomy, only after trisomy 21. The prevalence is more in males as compared to female infants. Infants with trisomy 18 are most likely to be lost either due to miscarriage or stillbirth.

Causes
The exact cause of Edward’s syndrome of still unknown. However, various studies have demonstrated the role of age and exposure to various carcinogenic chemicals in the increased incidence of Edwards’ syndrome. The condition is most common in people of late age (> 35 years). Parents belonging to this age are found to be increased carriers of abnormal sperm or egg, which consequently is passed to the developing offspring.

Symptoms
Infants with Edward’s syndrome are usually small at birth. In addition, the birth is often complicated and the infants are associated with additional problems, including physical and developmental. Some of the common symptoms are:

  • Overlapping fingers and stiffness in joints
  • Clenched fists during birth
  • Cleft palate
  • Malformed ears
  • Prominent occiput
  • Stunted facial features
  • Difficulty in feeding
  • Problems associated with lungs, stomach, and kidneys
  • Cardiovascular problems, including atrial or ventricular septal defect
  • Overall stunted growth
  • Chest deformity
  • Increased susceptibility to infections
  • Reduced immunity
  • Abnormal cry
  • Delayed development

Treatment Strategies In Edward’s Syndrome
Use of medications is not applicable in Edward’s syndrome; however, supportive care has been found to be effective in alleviating symptoms and quality of life.

1. Antibiotics
These are recommended in managing infections, including pneumonia, recurrent bronchitis, and urinary tract infections. In patients with Edward’s syndrome, sepsis is one of the most commonly observed infection. Therefore, appropriate treatment regimen focusing on preventing and alleviating infections are recommended.

2. Intensive care strategies
Cardiac management and pharmacological interventions are usually recommended in alleviating symptoms related to cardiovascular and other systems. Corrective heart surgery is used for heart-related problems and atrial and ventricular septal defects.

Conclusion
Edward’s syndrome is also called as trisomy 18. In this condition, an abnormal pair of chromosome 18 in present in the cell. Depending upon the presence of the abnormal chromosome in cells, Edward’s syndrome is divided into categories. Cardial corrected surgery, antibiotics, and intensive care is recommended in the management of Edward’s syndrome.

References
1. Zizka Z, Calda P, Fait T, et al. Prenatally diagnosable differences in the cellular immunity of fetuses with Down’s and Edwards’ syndrome. Fetal Diagn Ther. 2006;21(6):510-4.

2. Kroes I, Janssens S, Defoort P1. Ultrasound features in trisomy 13 (Patau syndrome) and trisomy 18 (Edwards syndrome) in a consecutive series of 47 cases. Facts Views Vis Obgyn. 2014;6(4):245-9.

3. Odeh M. Trisomy 18 and 13 and triploidy: the best way to diagnosis. Harefuah. 2014 Sep;153(9):522-3, 559.

4. Gekas J, Langlois S, Ravitsky V, et al. Identification of trisomy 18, trisomy 13, and Down syndrome from maternal plasma. Appl Clin Genet. 2014 Jul 7;7:127-31.

5. Lorenz JM, Hardart GE. Evolving medical and surgical management of infants with trisomy 18. Curr Opin Pediatr. 2014 Apr;26(2):169-76.

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