Pediatrics & Neonatology
Volume 50, Issue 4 , Pages 147-151, August 2009

Changing Clinical Presentations and Survival Pattern in Trisomy 18

  • Chien-Chou Hsiao

      Affiliations

    • Department of Pediatrics, Children's Hospital, Changhua Christian Hospital, Taiwan
    • Institute of Medical Research, College of Health Sciences, Chang Jung Christian University, Taiwan
    • Corresponding Author InformationCorresponding author. Department of Pediatrics, Children's Hospital, Changhua Christian Hospital, 135 Nan-Siau Street, Changhua City, 500 Taiwan
    • ,
  • Lon-Yen Tsao

      Affiliations

    • Department of Pediatrics, Children's Hospital, Changhua Christian Hospital, Taiwan
    • ,
  • Hsiao-Neng Chen

      Affiliations

    • Department of Pediatrics, Children's Hospital, Changhua Christian Hospital, Taiwan
    • ,
  • Han-Yao Chiu

      Affiliations

    • Department of Pediatrics, Children's Hospital, Changhua Christian Hospital, Taiwan
    • ,
  • Weng-Cheng Chang

      Affiliations

    • Institute of Medical Research, College of Health Sciences, Chang Jung Christian University, Taiwan

Received 20 August 2006; received in revised form 15 December 2008; accepted 28 December 2008.

Article Outline

Background

The clinical presentations and survival patterns of infants with trisomy 18 have changed with increasing utilization of prenatal ultrasound and amniocentesis, and improvements in neonatal intensive care.

Methods

We obtained data on duration of survival, male to female ratio, and clinical details for patients with trisomy 18, and calculated the prevalence rate.

Results

We studied 31 consecutive trisomy 18 infants. The estimated prevalence was 1/4,144. Eleven (35%) were premature infants, and 20 (65%) were full term. Mean birth weight was 1,896 g. Median life expectancy was 12 days; 11 days for males and 14 days for females (p = 0.87). The short-term survival rates of 1 week, 4 weeks, and 6 months were 58%, 32%, and 10%, respectively. The long-term survival rates of 1 year, 2 years, and 3 years were 6%, 6%, and 3%, respectively. Families signed do-not-resuscitate consent forms for five male (50%) and 19 female infants (90%) (p = 0.043).

Conclusion

All trisomy 18 infants in this study were preterm or full-term deliveries. Mean birth weight was lower than previously reported, and a high percentage of families signed do-not-resuscitate consent forms. Females did not survive longer than males, due to more females not being resuscitated. Most infants died in the first few weeks of life, but 3–6% of infants lived for ≥ 1 year. The possibility of long-term survival should be considered when counseling parents regarding trisomy 18.

Key Words:  clinical presentation , counseling , Edwards syndrome , survival , trisomy 18

No full text is available. To read the body of this article, please view the PDF online.

 

Back to Article Outline

References 

  1. Jones K . In: Trisomy 18 syndrome. Smith's Recognizable Patterns of Human Malformation . 6th ed. Philadelphia: WB Saunders; 2006;p. 13–17
  2. Root S , Carey JC . Survival in trisomy 18 . Am J Med Genet . 1994;49:170–174
  3. de Grouchy J , Turleau C . Autosomal disorder . In:  Emery AEH ,  Rimoin DL editor. Principles and Practice of Medical Genetics . Edinburgh, London, Melbourne and New York: Churchill Livingstone; 2002;p. 179–192
  4. Edwards J , Harnden DG , Cameron AH , et al.   A new trisomic syndrome . Lancet . 1960;1:87–90
  5. Weber WW . Survival and the sex ratio in trisomy 17–18 . Am J Hum Genet . 1967;19:369–373
  6. Carter PE , Pearn JH , Bell J , et al.   Survival in trisomy 18 . Clin Genet . 1985;27:59–61
  7. Goldstein H , Nielsen KG . Rates and survival of individuals with trisomy 13 and 18 . Clin Genet . 1988;34:366–372
  8. Lin H-Y , Lin S-P , Chen Y-J , et al.   Clinical characteristics and survival of trisomy 18 in a medical center in Taipei, 1988–2004 . Am J Med Genet Part A . 2006;140A:945–951
  9. Young I , Cook J , Mehta L . Changing demography of trisomy 18 . Arch Dis Child . 1986;61:1035–1036
  10. Nora JJ , Fraster FC . In: Medical genetics: Principle and Practice . 3rd ed. Philadelphia: Lea and Febiger; 1989;p. 36–37
  11. Carey J . Health supervision and anticipatory guidance for children with genetic disorders . Ped Clin North Am . 1992;39:25–53
  12. Kosho T , Nakamura T , Kawame H , et al.   Neonatal management of trisomy 18: clinical details of 24 patients receiving intensive treatment . Am J Med Genet Part A . 2006;140A:937–944
  13. Tanigawa T , Nakayama D , Miura K , et al.   Prenatal ultrasonographic findings may be useful in predicting the prognosis of trisomy 18 . Prenat Diagn . 2007;27:1039–1044
  14. Kalousek D , Barrott I , McGillivray B . Placental mosaicism and intrauterine survival of trisomy 13 and 18 . Am J Hum Genet . 1989;44:338–343
  15. Khoury MJ , Erickson JD , Cordero JF , et al.   Congenital malformations and intrauterine growth retardation: a population study . Pediatrics . 1988;82:83–90
  16. Hook EB , Cross PK , Schreinemachers DM . Chromosomal abnormality rates at amniocentesis and in live-born infants . JAMA . 1983;249:2034–2038
  17. Yamanaka M , Setoyama T , Igarashi Y , et al.   Pregnancy outcome of fetuses with trisomy 18 identified by prenatal sonography and chromosomal analysis in a perinatal center . Am J Med Genet Part A . 2006;140A:177–182

PII: S1875-9572(09)60053-X

doi:10.1016/S1875-9572(09)60053-X

Pediatrics & Neonatology
Volume 50, Issue 4 , Pages 147-151, August 2009

Article Tools