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Trends in prenatal screening for and diagnosis of Down's syndrome: England and Wales, 1989-97

BMJ 1998; 317 doi: https://doi.org/10.1136/bmj.317.7163.922 (Published 03 October 1998) Cite this as: BMJ 1998;317:922
  1. David Mutton, senior research fellow (d.e.mutton@mds.qmw.ac.uk),
  2. Roy G Ide, data manager,
  3. Eva Alberman, professor emeritus
  1. National Down Syndrome Cytogenetic Register, Wolfson Institute of Preventive Medicine, Department of Environmental and Preventive Medicine, St Bartholomew's and Royal London Medical Colleges, London EC1M 6BQ
  1. Correspondence to: Mr Mutton
  • Accepted 16 April 1998

The National Down Syndrome Cytogenetic Register holds data on 10651 cases of prenatally or postnatally diagnosed Down's syndrome occurring in England and Wales from 1 January 1989 to 31 December 1997 (93% of all eligible cases) (J Morris, personal communication). We used these data to investigate the trends in prenatal diagnosis of Down's syndrome between 1989 and 1997.

Subjects, methods, and results

All clinical cytogenetic laboratories in England and Wales notify the register anonymously of trisomy 21 or related karyotypes, together with the date, place of and indications for referral, parental age, and family history. Most send a copy of the notification to the referring physician for confirmation and completion.1 The outcome of the pregnancy is requested for all cases diagnosed prenatally (but may not be known for several months) and is known for 91% of registered prenatal diagnoses overall.

In 1989 registrations numbered 1081; in 1993, 1144; and in 1997, 1336 (table). In contrast, …

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