Survival in trisomy 18. Life tables for use in genetic counselling and clinical paediatrics

Abstract

Clinical management of neonates with Trisomy 18 depends on a knowledge of life expectancy. True estimates of potential life span are required for genetic counselling purposes when parents interpret the genetic threat, not only in terms of the mathematical odds involved, but also in terms of the quality and length of life of an affected infant, should such be born. This paper reports the findings from a study to generate life tables for Trisomy 18. This study is a total population study over 10 years based on a primary population of 2.2 million. Forty-eight cases of Trisomy 18 were identified, five at amniocentesis. Four of the 43 clinical cases (9%) were mosaics. The median life expectancy for live-born infants was five days (range one hour to 18 months). Mean age at death was 48 days. Life tables, by sex and by sub-types (associated congenital abnormalities) are presented. The annual incidence is 14 per 100,000 total births, with a prevalence estimate of 0.06 per 100,000 total population.