Ethnicity of children with homozygous c.985A>G medium-chain acyl-CoA dehydrogenase deficiency: findings from screening approximately 1.1 million newborn infants.

OBJECTIVES: It has been suggested that homozygous c.985A>G medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is a disease of White ethnic origin but little is known regarding its ethnic distribution. We estimated ethnic-specific homozygous c.985A>G MCADD birth prevalence from a large-scale UK newborn screening study. METHODS: Homozygous c.985A>G MCADD cases were ascertained in six English newborn screening centres between 1 March 2004 and 28 February 2007 by screening approximately 1.1 million newborns using tandem mass spectrometry analysis of underivatised blood spot samples to quantitate octanoylcarnitine (C8). Follow-up biochemistry and mutation analyses for cases (mean triplicate C8 value >/=0.5 micromol/L) were reviewed to confirm diagnosis. Ethnicity was ascertained from clinician report and denominators from 2001 UK Census estimates of ethnic group of children less than one year. RESULTS: Sixty-four infants were c.985A>G MCADD homozygotes (overall prevalence 5.8 per 100,000 live births; 95% CI 4.4-7.2). Sixty (93%) were White, two (3%) were mixed/other and two were of unknown ethnic origin. No Asian or Black homozygotes were identified. Proportions of White, mixed/other, Asian and Black births in screening regions were estimated, yielding homozygous c.985A>G MCADD birth prevalence of 6.9 per 100,000 (95% CI 5.2-8.8) in White, and 95% CI estimates of 0-2.7 per 100,000 in Asian and 0-5.8 in Black populations. The c.985A>G carrier frequency in the White group was estimated at one in 65 (95% CI 1/74, 1/61) under Hardy-Weinberg conditions. CONCLUSION: c.985A>G homozygous MCADD is not found in Black and Asian ethnic groups that have been screened at birth in England. This is consistent with the earlier published observations suggesting that MCADD due to the c.985A>G mutation is a disease of White ethnic origin.

The efficacy of a national Family Health Services Authority based cervical cytology system.

District health authorities have been instructed to operate a cervical cytology call and recall screening programme using the age-sex registers held by the Family Health Services Authority. This paper reports the results of a 1989 survey of women from two diverse health districts to determine the uptake of cervical screening between these health districts. The results show a low uptake in all areas, even after accounting for inaccurate information. Many invitations were sent to the wrong address, or to women who were not eligible for a smear test. The former was a particular problem in the inner city district of Parkside. The provision of an effective scheme will depend on all those involved addressing the problems found by this study. This is essential if general practitioners are to meet the new targets for payment set by the government for cervical cytology screening.

Low immunization uptake rates in an inner-city health district: fact or fiction?

Immunization uptake rates are assuming considerable importance as performance indicators for district health authorities (DHAs) and general practitioners (GPs). Data from the Cover of Vaccination Evaluated Rapidly (COVER) programme suggest that immunization uptake rates in innercity districts are well below the 90 per cent target. Using Parkside DHA, a district with consistently poor uptake, as an example, this paper has examined the accuracy of the Child Health Computer (CHC) records on which the COVER figures are based. In October 1989 a cohort of 1485 children born between April and June 1988 were identified. The 462 children identified by the CHC as immunization defaulters (using diphtheria and tetanus immunizations) were followed up by contacting child health clinics, GP surgeries and parents. This exercise revealed that 195 children were in fact immunized and 176 children were erroneously listed, largely because they were no longer resident at the address given. Only a small proportion of this information had reached the CHC by the end of the follow-up period. In addition to high population mobility, information inaccuracies appeared to be caused partly by a failure in data transfer between GPs and the DHA and by failures in data transfer between districts. Overall, the results of the study suggest that there is a considerable discrepancy between actual and recorded immunization uptake levels in Parkside and probably other inner-city areas. This will have a considerable impact on GPs and other health professionals who are striving to achieve 90 per cent targets.

Evaluation of the cervical cytology screening programme in an inner city health district.

District health authorities have been instructed to operate a cervical cytology call and recall screening programme using the age-sex registers held by family practitioner committees. A detailed evaluation of implementation in an inner London district showed that 477 out of 687 (69%) invitation letters sent to women by the family practitioner committee were either inaccurate or inappropriate: almost half of the recorded addresses were incorrect and a further fifth of the women were not eligible for a test. Overall, 90 women had a smear, which is only 13% of the total but 43% of those found to be eligible. The findings did not differ significantly with age. The findings have major implications not only for the effectiveness of call and recall for screening for cervical cancer but also for the future development of screening for breast cancer in such areas.