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ABSTRACT

Objective To investigate changes in the numbers of Down's syndrome births and terminations of pregnancies from 1989 to 1993.

Design Data from a national register of cytogenetic diagnoses of karyotypes associated with Down's syndrome were analysed to obtain observed numbers of births and terminations of pregnancies known to be affected. Allowance was made for those cases diagnosed prenatally for whom the eventual outcome of the pregnancies had not yet been ascertained.

Results There has been an increase over the study years in the number of cytogenetic diagnoses of Down's syndrome from 1063 in 1989 to 1137 in 1993, despite an overall fall in births in England and Wales. This is largely due to the increase in antenatal screening and diagnosis, but in part also due to the rise in numbers of pregnancies at increased maternal ages. The rise in prenatally diagnosed cases, of which 92% end in termination, has been accompanied by a fall in both the estimated numbers of affected live births, from 764 in 1989 to 615 in 1993, and the rate per 1000 total live births in the same years from 1.1 to 0.9.

Conclusions Better and speedier information on the outcome of prenatally diagnosed cases of congenital anomalies such as Down's syndrome would improve the quality of information available for those auditing genetic services or those planning for the care of survivors.