Trisomy 18 Treatment & Management

  • Author: Harold Chen, MD, MS, FAAP, FACMG; Chief Editor: Bruce Buehler, MD   more...
 
Updated: Aug 11, 2011
 

Medical Care

  • Medical care in trisomy 18 is supportive.
  • 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.[16]
    • 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.[17]
  • Neonatal intensive care management[18]
    • Management of neonates with trisomy 18 is controversial, supposedly because of the prognosis and the lack of precise clinical information concerning efficacy of treatment.
    • Improved survival (survival rate at age 1 wk, 1 mo, and 1 y was 88%, 83%, and 25%, respectively; median survival time was 152.5 d) through neonatal intensive treatment such as 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.
  • 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.[8]
  • 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.
Next

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.
Previous
Next

Consultations

  • Clinical geneticist
  • Developmental pediatrician
  • Cardiologist
  • Ophthalmologist
  • Orthopedist
  • Psychologist
  • Speech language pathologist
  • Audiologist
  • Early childhood educational programs
Previous
Next

Diet

  • No special diet is required.
Previous
Next

Activity

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

Harold Chen, MD, MS, FAAP, FACMG  Professor, Departments of Pediatrics, Obstetrics and Gynecology, and Pathology, Director of Genetic Laboratory Services, 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, American Medical Association, and American Society of Human Genetics

Disclosure: Nothing to disclose.

Specialty Editor Board

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: American Society for Biochemistry and Molecular Biology, Environmental Mutagen Society, Genetics Society of America, and Radiation Research Society

Disclosure: Nothing to disclose.

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.

David Flannery, MD, FAAP, FACMG  Vice Chair of Education, Chief, Section of Medical Genetics, Professor, Department of Pediatrics, Medical College of Georgia

David Flannery, MD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics and American College of Medical Genetics

Disclosure: Nothing to disclose.

Paul D Petry, DO, FACOP, FAAP  Consulting Staff, Freeman Pediatric Care, Freeman Health System

Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association

Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD  Professor, Department of Pediatrics and Genetics, Director RSA, University of Nebraska Medical Center

Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association

Disclosure: Nothing to disclose.

References

  1. Edwards JH, Harnden DG, Cameron AH, et al. A new trisomic syndrome. Lancet. Apr 9 1960;1:787-90. [Medline].

  2. Smith DW, Patau K, Therman E, Inhorn SL. A new autosomal trisomy syndrome: multiple congenital anomalies caused by anextra chromosome. J Pediatr. Sep 1960;57:338-45. [Medline].

  3. Rasmussen SA, Wong LY, Yang Q, May KM, Friedman JM. Population-based analyses of mortality in trisomy 13 and trisomy 18. Pediatrics. Apr 2003;111(4 Pt 1):777-84. [Medline].

  4. Kelly M, Robinson BW, Moore JW. Trisomy 18 in a 20-year-old woman. Am J Med Genet. Nov 1 2002;112(4):397-9. [Medline].

  5. Lebel RR, Roberson J, Van Dyke DL. Regarding trisomy 18. Am J Med Genet A. May 1 2006;140(9):964-5. [Medline].

  6. Shanske AL. Trisomy 18 in a second 20-year-old woman. Am J Med Genet A. May 1 2006;140(9):966-7. [Medline].

  7. Chen CP. Aplasia and duplication of the thumb and facial clefts associated with fetal trisomy 18. Am J Med Genet A. May 1 2006;140(9):960-3. [Medline].

  8. Tucker ME, Garringer HJ, Weaver DD. Phenotypic spectrum of mosaic trisomy 18: two new patients, a literature review, and counseling issues. Am J Med Genet A. Mar 1 2007;143(5):505-17. [Medline].

  9. Carey JC. Trsiomy 18 and trisomy 13 syndromes. In: Cassidy SB, Allanson JE. Management of Genetic Syndromes. 2nd. New York, NY: Wiley-Liss; 2005:555-68.

  10. Bettio D, Levi Setti P, Bianchi P, Grazioli V. Trisomy 18 mosaicism in a woman with normal intelligence. Am J Med Genet A. Jul 15 2003;120(2):303-4. [Medline].

  11. Wiedmeier SE, Henry E, Christensen RD. Hematological abnormalities during the first week of life among neonates with trisomy 18 and trisomy 13: data from a multi-hospital healthcare system. Am J Med Genet A. Feb 1 2008;146(3):312-20. [Medline].

  12. Lin HY, Lin SP, Chen YJ, et al. Clinical characteristics and survival of trisomy 18 in a medical center in Taipei, 1988-2004. Am J Med Genet A. May 1 2006;140(9):945-51. [Medline].

  13. Sepulveda W, Wong AE, Dezerega V. First-trimester sonographic findings in trisomy 18: a review of 53 cases. Prenat Diagn. Mar 2010;30(3):256-9. [Medline].

  14. Zheng Y, Zhou XD, Zhu YL, Wang XL, Qian YQ, Lei XY. Three- and 4-dimensional ultrasonography in the prenatal evaluation of fetal anomalies associated with trisomy 18. J Ultrasound Med. Jul 2008;27(7):1041-51. [Medline].

  15. Wei S, Siu VM, Decker A, Quigg MH, Roberson J, Xu J. False-positive prenatal diagnosis of trisomy 18 by interphase FISH: hybridization of chromosome 18 alpha-satellite DNA probe (D18Z1) to the heterochromatic region of chromosome 9. Prenat Diagn. Nov 2007;27(11):1064-6. [Medline].

  16. Kaneko Y, Kobayashi J, Yamamoto Y, Yoda H, Kanetaka Y, Nakajima Y. Intensive cardiac management in patients with trisomy 13 or trisomy 18. Am J Med Genet A. Jun 1 2008;146A(11):1372-80. [Medline].

  17. Kaneko Y, Kobayashi J, Achiwa I, Yoda H, Tsuchiya K, Nakajima Y. Cardiac Surgery in Patients with Trisomy 18. Pediatr Cardiol. Apr 2 2009;[Medline].

  18. Kosho T, Nakamura T, Kawame H, Baba A, Tamura M, Fukushima Y. Neonatal management of trisomy 18: clinical details of 24 patients receiving intensive treatment. Am J Med Genet A. May 1 2006;140(9):937-44. [Medline].

  19. [Guideline] Cunniff C. Prenatal screening and diagnosis for pediatricians. Pediatrics. Sep 2004;114(3):889-94. [Medline].

  20. Baty BJ, Blackburn BL, Carey JC. Natural history of trisomy 18 and trisomy 13: I. Growth, physical assessment, medical histories, survival, and recurrence risk. Am J Med Genet. Jan 15 1994;49(2):175-88. [Medline].

  21. Baty BJ, Jorde LB, Blackburn BL, Carey JC. Natural history of trisomy 18 and trisomy 13: II. Psychomotor development. Am J Med Genet. Jan 15 1994;49(2):189-94. [Medline].

  22. Bersu ET, Ramirez-Castro JL. Anatomical analysis of the developmental effects of aneuploidy in man-- the 18-trisomy syndrome: I. Anomalies of the head and neck. Am J Med Genet. 1977;1(2):173-93. [Medline].

  23. Biagiotti R, Cariati E, Brizzi L, et al. Maternal serum screening for trisomy 18 in the first trimester of pregnancy. Prenat Diagn. Sep 1998;18(9):907-13. [Medline].

  24. Bronsteen R, Lee W, Vettraino IM, et al. Second-trimester sonography and trisomy 18. J Ultrasound Med. Feb 2004;23(2):233-40. [Medline].

  25. Carey JC. Introductory comments - special section: Prader-Willi syndrome. Am J Med Genet A. Mar 1 2007;143(5):413-4. [Medline].

  26. Chen H. Trisomy 18 syndrome. In: Atlas of Genetic Diagnosis and Counseling. Totowa, New Jersey: Humana Press; 2006:990-996.

  27. Collins AL, Fisher J, Crolla JA, Cockwell AE. Further case of trisomy 18 mosaicism with a mild phenotype [letter]. Am J Med Genet. Mar 13 1995;56(1):121-2. [Medline].

  28. Embleton ND, Wyllie JP, Wright MJ, et al. Natural history of trisomy 18. Arch Dis Child Fetal Neonatal Ed. Jul 1996;75(1):F38-41. [Medline].

  29. Findlay I, Toth T, Matthews P, et al. Rapid trisomy diagnosis (21, 18, and 13) using fluorescent PCR and short tandem repeats: applications for prenatal diagnosis and preimplantation genetic diagnosis. J Assist Reprod Genet. May 1998;15(5):266-75. [Medline].

  30. Gilbert-Barnes E. Chromosome abnormalities. In: Gilbert-Barnes E, ed. Potter's Pathology of the Fetus and Infant. Vol 1. St Louis, Mo: Mosby; 1997:402-4.

  31. Gross SJ, Bombard AT. Screening for the aneuploid fetus. Obstet Gynecol Clin North Am. Sep 1998;25(3):573-95. [Medline].

  32. Hecht F, Bryant JS, Motulsky AG, Giblett ER. The no. 17-18 (E) trisomy syndrome. Studies on cytogenetics, dermatologlyphics, paternal age, and linkage. J Pediatr. Oct 1963;63:605-21. [Medline].

  33. Huether CA, Martin RL, Stoppelman SM, et al. Sex ratios in fetuses and liveborn infants with autosomal aneuploidy. Am J Med Genet. Jun 14 1996;63(3):492-500. [Medline].

  34. Kinoshita M, Nakamura Y, Nakano R, et al. Thirty-one autopsy cases of trisomy 18: clinical features and pathological findings. Pediatr Pathol. 1989;9(4):445-57. [Medline].

  35. Kjaer I, Keeling JW, Hansen BF. Pattern of malformations in the axial skeleton in human trisomy 18 fetuses. Am J Med Genet. Nov 11 1996;65(4):332-6. [Medline].

  36. Leporrier N, Herrou M, Herlicoviez M, Leymarie P. The usefulness of hCG and unconjugated oestriol in prenatal diagnosis of trisomy 18. Br J Obstet Gynaecol. Apr 1996;103(4):335-8. [Medline].

  37. Moyano D, Huggon IC, Allan LD. Fetal echocardiography in trisomy 18. Arch Dis Child Fetal Neonatal Ed. Nov 2005;90(6):F520-2. [Medline].

  38. Nicolaidis P, Petersen MB. Origin and mechanisms of non-disjunction in human autosomal trisomies. Hum Reprod. Feb 1998;13(2):313-9. [Medline]. [Full Text].

  39. Niedrist D, Riegel M, Achermann J, Schinzel A. Survival with trisomy 18--data from Switzerland. Am J Med Genet A. May 1 2006;140(9):952-9. [Medline].

  40. Ramirez-Castro JL, Bersu ET. Anatomical analysis of the developmental effects of aneuploidy in man-- the 18-trisomy syndrome: II. Anomalies of the upper and lower limbs. Am J Med Genet. 1978;2(3):285-306. [Medline].

  41. Root S, Carey JC. Survival in trisomy 18. Am J Med Genet. Jan 15 1994;49(2):170-4. [Medline].

  42. Shields LE, Carpenter LA, Smith KM, Nghiem HV. Ultrasonographic diagnosis of trisomy 18: is it practical in the early second trimester?. J Ultrasound Med. May 1998;17(5):327-31. [Medline].

  43. Taylor AI. Autosomal trisomy syndromes: a detailed study of 27 cases of Edwards' syndrome and 27 cases of Patau's syndrome. J Med Genet. Sep 1968;5(3):227-52. [Medline].

  44. Van Dyke DC, Allen M. Clinical management considerations in long-term survivors with trisomy 18. Pediatrics. May 1990;85(5):753-9. [Medline].

 
Previous
Next
 
Infant with Edwards syndrome. Note microphthalmia, micrognathia/retrognathia, microstomia, low set/malformed ears, short sternum, and abnormal clenched fingers.
Note the characteristic clenched hand with the index finger overriding the middle finger and the fifth finger overriding the fourth fingers.
A G-banded karyotype showing 47,XY,+18.
Note a rocker-bottom foot with prominent calcaneus.
Hands of a fetus with Edwards syndrome. Note that fetus typically presents with overlapping digits with the second and fifth fingers overriding the third and fourth fingers respectively. Overall posturing of the wrists and fingers suggests contractures.
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2012 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.