Confidential inquiry into families with two siblings with cystic fibrosis
a Genetic Enquiry Centre, St Mary's Hospital,
Manchester, b Department of Child Health, Institute of
Clinical Science, Belfast, c Paediatric
Genetics Unit, Royal Manchester Children's Hospital
Correspondence to: Dr Paula Williamson, Department of Mathematical Sciences, University of Liverpool, Liverpool L69 3BX.
Accepted 18 July 1997
OBJECTIVE
To audit the care that had been
provided to couples before the birth of a child with cystic fibrosis
where a sibling had been previously diagnosed.
DESIGNRetrospective review of case notes.
SAMPLEFamilies where at least one affected child
had been born between 1 January 1991 and 30 June 1995 and the diagnosis
in the first child was made before the second affected pregnancy
reached 20 weeks. The combination of information on these families with data from the prenatal diagnosis register allowed the reconstruction of
a cohort of pregnancies in women with a previous affected child.
MAIN RESULTSForty six eligible families with a
second affected child were identified. Details from the paediatrician
who had diagnosed the first affected child were obtained in 43 cases:
all 43 couples were offered genetic counselling, but where provided by
a paediatrician this was difficult to assess as no couple was sent a
summary letter. Details were obtained from the obstetrician in the
subsequent affected pregnancy in 42 cases: prenatal diagnosis was not
offered in 10 (24%), offered and declined in 24 (57%), offered and
accepted but termination declined in eight (19%). In the overall
cohort of at risk pregnancies, the estimated rate of prenatal diagnosis offer was 97%, prenatal diagnosis uptake 86%, false negative prenatal diagnosis rate 0%, and uptake of termination 95%.
CONCLUSIONS(1) Parental choice was an important
determinant of second affected births. (2) Despite widespread
availability, prenatal diagnosis was not offered in an estimated 3% of
at risk pregnancies. (3) There were shortcomings in counselling
documentation, in particular failure to send a summary letter to
counselled couples.
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© 1997 by Archives of Disease in Childhood
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