A cytogenetic register of trisomies in Scotland: results of the first 2 years (1989, 1990)

Clin Genet. 1994 Dec;46(6):405-9. doi: 10.1111/j.1399-0004.1994.tb04407.x.


A population-based register of all autosomal trisomies diagnosed in Scotland was established in 1989. Data were provided by all cytogenetic service laboratories, and included karyotype, date and place of outcome, indication for analysis, maternal age and place of residence. The Register includes all foetuses diagnosed prenatally and all cytogenetically-confirmed live- and still-births with autosomal trisomy, including partial, mosaic and familial cases. In the 2 years 1989-90, 76 prenatal and 147 postnatal diagnoses were notified. For Down syndrome karyotypes the estimated rate, assuming no terminations and after adjusting for spontaneous foetal losses following diagnosis, was 1.23 per 1000 livebirths. This was almost identical to that expected by applying published maternal age-specific rates to the maternal age distribution in Scotland, indicating a very high level of ascertainment. The adjusted rates for trisomies 13 and 18 were also close to expected values derived from published data. Prenatal screening was estimated to reduce the newborn incidence of trisomy 21 by about one quarter overall, and about one half in mothers over 35 years. For trisomy 18, the estimated overall reduction was also about one quarter. It is concluded that the Register provides a practical and cost-effective means of monitoring the effects of prenatal screening, with near-complete ascertainment. In the longer term it will provide a database for studies of the aetiology of these conditions.

MeSH terms

  • Birth Rate
  • Chromosomes, Human, Pair 13 / genetics*
  • Chromosomes, Human, Pair 18 / genetics*
  • Chromosomes, Human, Pair 21 / genetics
  • Down Syndrome / epidemiology
  • Genetic Testing / methods
  • Humans
  • Incidence
  • Infant, Newborn
  • Maternal Age
  • Molecular Epidemiology
  • Registries*
  • Scotland / epidemiology
  • Trisomy*