Document Detail

A cytogenetic register of trisomies in Scotland: results of the first 2 years (1989, 1990).
MedLine Citation:
PMID:  7889657     Owner:  NLM     Status:  MEDLINE    
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.
A D Carothers
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Clinical genetics     Volume:  46     ISSN:  0009-9163     ISO Abbreviation:  Clin. Genet.     Publication Date:  1994 Dec 
Date Detail:
Created Date:  1995-04-18     Completed Date:  1995-04-18     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  DENMARK    
Other Details:
Languages:  eng     Pagination:  405-9     Citation Subset:  IM    
M.R.C. Human Genetics Unit, Western General Hospital, Edinburgh, UK.
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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
Infant, Newborn
Maternal Age
Molecular Epidemiology
Scotland / epidemiology

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