Trisomy 18 or Edwards syndrome is a genetic disorder that is diagnosed during pregnancy and usually results in miscarriage or infant death. It is traditionally considered lethal, with almost 95% of infants dying by one year of age. However, more life-sustaining and life-prolonging treatments have appeared recently, with the subsequent changes in disease management plans. The purpose of this paper is to discuss a trisomy 18 management plan, including diagnostics, treatment, and follow-up care options.
Disease Overview
Trisomy 18 or Edwards syndrome is a genetic condition characterized by severe brain and body abnormalities due to the presence of an additional copy of chromosome 18. In cases of ‘mosaic trisomy,’ the extra chromosome is not found in all cells, and the symptoms are less severe. Trisomy 18 is most often caused by the malformations of parents’ reproductive cells or problems that occur in the early development of the embryo. The disease is not inherited, with maternal age being the most common risk factor.
Trisomy 18 affects both the body and the brain of a patient. Babies with Trisomy 18 are born underweight, have a small head, small jaw, hands abnormalities, and severe psychomotor and intellectual disability. Typical internal anomalies include cardiovascular problems, malformations of the gastrointestinal tract and the central nervous system. Most children diagnosed with trisomy 18 die shortly after birth, with around 50% of babies living longer than one week, and about 5–10% of children surviving beyond the first year (Cereda & Carey, 2012). However, medical and surgical interventions have been proved to prolong the life of patients, with case reports of individuals living for more than ten years.
Diagnosis
Trisomy 18 is usually diagnosed during pregnancy based on ultrasound scans and maternal serum biomarkers screening. Ultrasound can help to detect such anomalies as fetal growth restriction, organ abnormalities, and the malformations of the central nervous system. It establishes the risk for trisomy 18 but cannot provide exact information on whether or not the baby has the condition. To confirm the diagnosis, either chorionic virus sampling (CVS) or amniocentesis is used to examine the baby’s chromosomes directly. Trisomy 18 can also be suspected at birth based on a baby’s appearance and related medical problems. A blood test and a chromosome study are done to confirm the diagnosis.
With trisomy 18, parental counseling plays an extremely important role, as the prenatal diagnosis of a life-threatening disorder is extremely stressful for expecting parents. An essential part of the management plan is effective counseling aimed to provide the family with extensive information about the condition without trying to influence their decisions (Batees & Altirkawi, 2014). A careful approach should be taken to advise the parents about their choices and medical prognosis.
Treatment
Trisomy 18 is an incurable disease with a high neonatal and infantile death rate. Generally, it is recommended to opt for support rather than intensive treatment because it is thought to be unlikely to sufficiently improve the patient’s quality of life. However, the past years have witnessed a change towards a more individualized approach whereby the invasive and medical treatment options could be considered (Pyle et al., 2018). It is now believed that the prognosis for infants with Edwards syndrome is not that definitive as it once was asserted.
The main goal of trisomy 18 treatment is to prolong life, with the possibility of surgical and medical interventions based on individual patient’s needs. Basic treatment typically includes cardiovascular, nutritional, and respiratory support, as well as infection prevention. Although surgical treatment of abnormalities is rarely considered, recent studies show that in some cases cardiac surgery can significantly prolong survival and improve patient’s comfort.
Offering medical and surgical interventions is thought to be controversial because of poor prognosis and possible complications. However, it is now believed that parents should be involved in making decisions that have traditionally been the prerogative of health care professionals. A comprehensive trisomy 18 management plan should be based on careful risk assessment for each individual patient and medical decisions developed collaboratively by parents and healthcare professionals.
Follow-up and Medication
Possible complications that should be considered in follow-up care include infections, scoliosis, feeding problems, congenital heart defect, and Wilms tumor. Nasogastric or gastrostomy feeding is usually provided for feeding problems. Diuretics and digoxin may be used for the management of congestive heart failure secondary to congenital heart defects (Imataka et al., 2016). If the parents decide to proceed with cardiac management, treatment is typically surgical rather than medical.
Conclusion
An effective trisomy 18 management plan should be designed to include prenatal diagnosis, parental counseling, development of surgical and medical intervention options, and a follow-up care plan. Although trisomy 18 is considered to be a lethal disease, modern medicine offers a range of life-sustaining and life-prolonging treatment options that should be carefully considered for each patient. A collaborative approach should be taken to include parents in the medical decision-making process with respect to their rights to make informed choices regarding their child’s health.
References
Cereda, A., & Carey, J. (2012). The trisomy 18 syndrome. Orphanet Journal of Rare Diseases, 7, p. 81.
Batees, H., & Altirkawi, K. (2014). Trisomy 18: Towards a balanced approach. Sudanese Journal of Paediatrics, 14(2), pp. 76–84.
Imataka, G., Suzumura, H., & Arisaka, O. (2016). Clinical features and survival in individuals with trisomy 18: A retrospective one-center study of 44 patients who received intensive care treatments. Molecular Medicine Reports, 13(3), pp. 2457–2466.
Pyle, A., Fleischman, A., Hardart, G., & Mercurio, M. (2018). Management options and parental voice in the treatment of trisomy 13 and 18. Journal of Perinatology, 38, pp. 1135–1143.