Trisomy 18 Treatment & Management
- Author: Harold Chen, MD, MS, FAAP, FACMG; Chief Editor: Luis O Rohena, MD more...
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- Medical care in trisomy 18 is not directed, or it is supportive if that is the family's wish.
- There are confirmed 20+-year-old patients with this disorder; at least 5-10% of these patients survive, and parents are not typically prepared to care for them long term. In general, cardiac management is the most intense decision parents have to make.
- Sepsis is a continuous concern.
- Provide nasogastric and gastrostomy supplementation for feeding problems.
- Orthopedic management of scoliosis may be needed secondary to hemivertebrae.
- Cardiac management is primarily medical. Most of these children require a diuretic and digoxin for congestive heart failure. Optional treatment for cardiac lesions includes the following:
- Intensive cardiac management with pharmacological intervention for ductal patency (indomethacin and/or mefenamic acid for closure, and prostaglandin E1 for maintenance) and palliative and corrective cardiac surgery was demonstrated to improve survival in patients with trisomy 18.
- In a study of patients with trisomy 18 who had cardiac lesions, 82% of patients undergoing heart surgery were discharged home with alleviated cardiac symptoms; congenital heart defect–related death occurred in only one patient, suggesting that cardiac surgery is effective in preventing congenital heart defect–related death; and initial palliative surgery was associated with longer survival than intracardiac repair.
- Neonatal intensive care (NICU) management
- Management of neonates with trisomy 18 is controversial, purportedly because of the prognosis and the lack of precise clinical information concerning the efficacy of treatment.
- Improved survival (in one study, survival rates at age 1 wk, 1 mo, and 1 y, respectively, were 88%, 83%, and 25%; median survival time, 152.5 d) through NICU treatment (eg, cesarean delivery, resuscitation, respiratory support, and surgical procedures) are helpful for clinicians to offer the best information on treatment options to families of patients with trisomy 18.
- A survey of US neonatologists regarding newborn care of trisomy 18 infants reported that 44% would provide medical intervention (including resuscitation), primarily because of parental wishes to support the baby.
- For an excellent recent review of survival rates and the evolving natural history of trisomy 18, please see Cereda A, Carey JC. The trisomy 18 syndrome. Orphanet J Rare Dis. 2012;7:81.
- Genetic counseling
- Recurrence risk is 1% or less for full trisomy 18. If a parent is a balanced carrier of a structural rearrangement, the risk is substantially high.
- The risk should be assessed based on the type of structural rearrangement and its segregation pattern.
- The wide phenotypic variation and lack of correlation with the percentage of trisomic cells in mosaic trisomy 18 makes informative prediction of natural history and genetic counseling challenging.
- Patients with large 18q duplications (which may arise from parental translocations/inversions) or "partial trisomy 18" could benefit from the same routine ultrasonographic screening for Wilms tumor as those with full trisomy 18, because early detection is essential to optimizing survival.
- Psychosocial management
- During the neonatal period, issues of diagnosis and survival are paramount. Parents need information about the syndrome, including its cause, implications, and possible outcomes.
- Support services within the hospital and in the community should be made available to the family.
- The presence of a disabled child in any family is a source of stress and anxiety.
- Families also undergo a complex grieving process that combines both the reactive grief predominant in chronic illness and the preparatory grief associated with impending death.
Because of the extremely poor prognosis, surgical repair of severe congenital anomalies such as esophageal atresia or congenital heart defects should be discussed with families.
A retrospective study by Nakai et al indicated that cardiac surgery can prolong survival in trisomy-18 patients who have high pulmonary blood flow. The study involved 20 patients, including 10 who underwent cardiac surgery with pulmonary artery banding and 10 who were treated conservatively; the surgical patients survived for a significantly longer period (495 days) than did the conservative management group (93.1 days).
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- Clinical geneticist
- Developmental pediatrician
- Speech language pathologist
- Early childhood educational programs
- Consider involving the institution's ethics committee if surgical intervention is recommended.
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- No special diet is required.
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- Activities are limited because of profound mental retardation and physical handicaps.
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