Surveillance guidelines for children with trisomy 18

Am J Med Genet A. 2021 Apr;185(4):1294-1303. doi: 10.1002/ajmg.a.62097. Epub 2021 Feb 2.


Trisomy 18 is the second most common aneuploidy syndromes in live born infants. It is associated with high mortality rates, estimated to be 75%-95% in the first year of life, as well as significant morbidity in survivors. The low survival is largely due to the high prevalence of severe congenital anomalies in infants with this diagnosis. However, interventions to repair or palliate those life-threatening anomalies are being performed at a higher rate for these infants, resulting in increased rates of survival beyond the first year of life. While it is well documented that trisomy 18 is associated with several cardiac malformations, these patients also have respiratory, neurological, neoplastic, genitourinary, abdominal, otolaryngologic, and orthopedic complications that can impact their quality of life. The goal of this review is to present a comprehensive description of complications in children with trisomy 18 to aid in the development of monitoring and treatment guidelines for the increasing number of providers who will be caring for these patients throughout their lives. Where the evidence is available, this review presents screening recommendations to allow for more rapid detection and documentation of these complications.

Keywords: Edward's syndrome; hepatoblastoma; management; screening.

Publication types

  • Review

MeSH terms

  • Aneuploidy
  • Child
  • Chromosomes, Human, Pair 18 / genetics
  • Female
  • Heart Defects, Congenital / diagnosis
  • Heart Defects, Congenital / genetics*
  • Heart Defects, Congenital / pathology
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Prenatal Diagnosis*
  • Quality of Life
  • Trisomy 18 Syndrome / diagnosis
  • Trisomy 18 Syndrome / genetics*
  • Trisomy 18 Syndrome / pathology