TRISOMY 18 AND TRISOMY 13 SYNDROMES

Abstract

The trisomy 18 and trisomy 13 syndromes represent important and common conditions of human aneusomy. Together, their combined prevalence in live-born infants approaches 1 in 4000 births. These syndromes are unique among chromosome disorders as well as the other conditions described in this text since about 90% of children with trisomies 18 and 13 die before their first birthday. Because of this high infant mortality rate, the conditions are sometimes labeled simplistically as “lethal.” However, about 10% of infants do indeed survive. Regardless of the figures for survival, the parents of the child and the practitioners caring for the family seek an approach to management and health supervision as in any other serious medical disorder. Ongoing support and care by professionals are crucial to a family whose child has an uncertain prognosis. This chapter will provide a concise review of the literature of the syndromes and a plan of management for the primary care of children with trisomies 18 and 13. Keywords: trisomy 19; trisomy 13; Edwards syndrome; Patau syndrome; poor survival; multiple congenital anomalies