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Trisomy 18 Treatment & Management

  • Author: Harold Chen, MD, MS, FAAP, FACMG; Chief Editor: Luis O Rohena, MD  more...
 
Updated: Feb 05, 2016
 

Medical Care

See the list below:

  • 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.
  • Treat infections as appropriate. These are usually secondary to otitis media, upper respiratory tract infections (eg, bronchitis, pneumonia), and urinary tract infection.
  • 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.[30]
    • 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.[31]
  • 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.[32]
    • Improved survival (in one study,[32] 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.[33]
    • 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.[19]
  • 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.[13]
    • 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.[34]
  • 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.
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Surgical Care

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).[35]

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Consultations

See the list below:

  • Clinical geneticist
  • Developmental pediatrician
  • Cardiologist
  • Ophthalmologist
  • Orthopedist
  • Psychologist
  • Speech language pathologist
  • Audiologist
  • Early childhood educational programs
  • Consider involving the institution's ethics committee if surgical intervention is recommended.
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Diet

See the list below:

  • No special diet is required.
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Activity

See the list below:

  • Activities are limited because of profound mental retardation and physical handicaps.
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Contributor Information and Disclosures
Author

Harold Chen, MD, MS, FAAP, FACMG Professor, Department of Pediatrics, Louisiana State University Medical Center

Harold Chen, MD, MS, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Lois J Starr, MD, FAAP Assistant Professor of Pediatrics, Clinical Geneticist, Munroe Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center

Lois J Starr, MD, FAAP is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics

Disclosure: Nothing to disclose.

Chief Editor

Luis O Rohena, MD Chief, Medical Genetics, San Antonio Military Medical Center; Assistant Professor of Pediatrics, Uniformed Services University of the Health Sciences, F Edward Hebert School of Medicine; Assistant Professor of Pediatrics, University of Texas Health Science Center at San Antonio

Luis O Rohena, MD is a member of the following medical societies: American Academy of Pediatrics, American Chemical Society, American College of Medical Genetics and Genomics, American Society of Human Genetics

Disclosure: Nothing to disclose.

Additional Contributors

Michael Fasullo, PhD Senior Scientist, Ordway Research Institute; Associate Professor, State University of New York at Albany; Adjunct Associate Professor, Center for Immunology and Microbial Disease, Albany Medical College

Michael Fasullo, PhD is a member of the following medical societies: Radiation Research Society, American Society for Biochemistry and Molecular Biology, Genetics Society of America, Environmental Mutagenesis and Genomics Society

Disclosure: Nothing to disclose.

References
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Note the microphthalmia, micrognathia/retrognathia, microstomia, low-set/malformed ears, short sternum, and abnormally clenched fingers in an infant with trisomy 18 (Edwards syndrome).
This photo depicts the elongated skull, prominent occiput, low-set ear, micrognathia/retrognathia, short neck, and characteristic finger-grasping pattern in an infant with trisomy 18 (Edwards syndrome).
Note the characteristic clenched hand of trisomy 18 (Edwards syndrome) with the index finger overriding the middle finger and the fifth finger overriding the fourth finger.
This photo demonstrates a G-banded karyotype showing 47,XY,+18.
Note the rocker-bottom foot with a prominent calcaneus in an infant with trisomy 18 (Edwards syndrome).
This photo shows the hands of a fetus with trisomy 18 (Edwards syndrome). Note that hands typically present with overlapping digits, in which the second and fifth fingers override the third and fourth fingers, respectively. The overall posturing of the wrists and fingers in this fetus is suggestive of contractures.
 
 
 
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