Influence of five years of antenatal screening on the paediatric cystic fibrosis population in one region
a Department
of Child Life and Health, University of Edinburgh, b Royal Hospital for Sick Children, Edinburgh
Correspondence to: Dr Steven Cunningham, Department of Child Life and Health, University of Edinburgh, 20 Sylvan Place, Edinburgh EH9 1UW.
Accepted 25 November
1997
BACKGROUND
Antenatal screening for cystic
fibrosis has been endorsed by the US National Institutes of Health.
Edinburgh is the only city in the UK with an established routine
antenatal screening programme for cystic fibrosis.
AIMSTo report the change in numbers of infants
diagnosed with cystic fibrosis born in Edinburgh after the introduction
of antenatal screening for the disease.
POPULATIONInfants diagnosed as having cystic
fibrosis (by sweat test or genotyping, or both) in the seven years
before antenatal testing (1984-90) and the first five years of
antenatal testing (1991-95). Children born in this region who had
moved before diagnosis were identified from the UK cystic fibrosis
survey database.
RESULTSThe incidence of cystic fibrosis
decreased from an average of 4.6 to 1.6 children each year with
antenatal screening. The reduction in the incidence (65%) was greater
than that accounted for by prenatal diagnosis and termination (36%).
Of the eight children born with cystic fibrosis during the period of
antenatal screening, five had been subject to antenatal screening:
three had only one mutation identified, one was missed due to a
laboratory error, and one was identified as a one in four risk, but
prenatal diagnosis was not performed.
CONCLUSIONSAntenatal testing for cystic fibrosis
has successfully reduced the incidence of cystic fibrosis in this
region. Although the numbers are small, it is possible that the
reduction in numbers may have been greater than might be expected from
antenatal screening alone.
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© 1998 by Archives of Disease in Childhood
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