Suchergebnisse

An earlier report on antenatal screening for Down syndrome in a South Wales district identified sub-standard and variable practices. A multidisciplinary Professional Advisory Group was set up in 1996 to review the service and recommend a model of care, as well as quality outcome measures to form the standards for audit and evaluation. The programme drew heavily on evidence-based practice and the opinion and aspirations of the pregnant women. This was the first organised attempt at standardisation of the screening practices for congenital abnormalities in Wales. A year later, several goals had been achieved. Each obstetric unit now has a named Screening Midwife Specialist. The first genetic course in the UK specifically tailored for midwifes has been established. Lack of leadership in fetal medicine and ultrasound scanning was identified in one maternity unit, resulting in the appointment of two additional sonographers and a consultant obstetrician. The Professional Advisory Group produced a new, district-wide, annually updated information booklet for expectant mothers. A new information system was installed in each maternity unit to facilitate audit of outcome. Several clinical, biochemical and cytogenetic indicators were specified as quality outcome indicators and were collated and compared with the recommended standards. The uptake of serum screening has declined from around 95 to 75% in two units (to 62.9% overall, closely resembling the percentage expected based on the findings of a local survey of pregnant women). The rate of amniocentesis was significantly reduced by 28.7%, as women thought more clearly about their options and the limitations of tests. This suggests that women have a better understanding and more autonomy in making decisions regarding tests. An enthusiastic public health lead was essential in initiating and maintaining the changed programme.

A database of the frequency of human inherited disorders is being established for use in a clinical context, in medical research, for epidemiological studies, and in the planning of genetic services. Each entry includes the disease name categorized by organ system, an Online Mendelian Inheritance in Man (OMIM) number, the mode of inheritance, the population origin, a prevalence and/or incidence rate and a literature reference. The Frequency of Inherited Disorders Database (FIDD) currently contains 1,580 entries relating to 280 different Mendelian disorders. FIDD will be prospectively maintained and can be accessed at http://www.uwcm.ac.uk/uwcm/mg/fidd/. A more refined and systematic literature search that will serve to expand the size, scope and scale of the database is currently in progress. The coverage of neurological and neuromuscular disorders is however considered to be nearly complete. In this first description of FIDD, Huntington disease was used to illustrate the structure and scope of the database as well as its potential scientific utility. A total of 100 published articles on the prevalence of Huntington disease were appraised. Prevalence and incidence rates varied between different ethnic groups and between different countries. Possible reasons for this variation are discussed.