OBJECTIVE:To investigate geodemographic characteristics of women having prenatal diagnosis for Down syndrome and other fetal chromosome abnormalities in Victoria, Australia. METHODS:A descriptive analysis of population-based data on all confinements, amniocenteses and chorionic villus sampling for 1998 and 2002 was undertaken. Multivariate logistic regression analysis of 2002 data investigated geographical differences, including selected maternal features and a socioeconomic status measure that may be associated with uptake of diagnostic testing. RESULTS:After adjusting for age, parity of three or more children was associated with a significantly decreased likelihood of testing (P<0.001). Women from Africa were 61% less likely to have testing than women born in Australia (P<0.01). While overall uptake of testing was lower than average in rural regions, only the Loddon Mallee had a significantly decreased likelihood of testing (OR 0.71 (0.53, 0.95), P=0.02). A socioeconomic index of place of residence showed no association with uptake. Metropolitan and rural women giving birth in private hospitals were 31 and 60% more likely to have a test than women giving birth in public hospitals (P<0.01). CONCLUSION:Geographical differences influence uptake of prenatal diagnosis, probably related to access to services. However, other maternal demographic factors also play a role in uptake. To ensure equity in access and autonomy in women's reproductive choices, reasons for exceptionally low uptake in certain localities or within certain subgroups of pregnant women should be investigated further, followed by appropriate changes in service provision.

Multi‐disciplinary familial cancer clinics are becoming an integral part of cancer services. It is, therefore, important to assess how attendance at these clinics impacts on cancer‐related concerns, risk perceptions and behavioural intentions, and how the clinic services are being received by those using them. This study has assessed a familial colorectal cancer clinic with respect to cancer‐related worries and risk perceptions and their impact on interest in DNA testing and overall satisfaction with the clinic. Pre‐ and post‐clinic questionnaires were completed by 127 patients and relatives attending the clinic. After attending the clinic, the proportion of people ‘very’ or ‘extremely’ worried about developing bowel cancer reduced from 49 (pre‐clinic) to 34% (p=0.002). Worry about bowel cancer was positively associated with younger age, higher education level and higher perceived risk of developing cancer. A reduction in level of risk perception correlated with a lower likelihood of feeling ‘very worried’ about developing bowel cancer. Of those intending to go ahead with DNA testing, 58% were ‘very worried’ about bowel cancer compared with 15% of those not intending to proceed with testing, suggesting that worry was a motivation for interest in DNA testing. One‐third of participants indicated another session of genetic counselling would be helpful. Within this group, a higher proportion was very worried about bowel cancer (43%) than for those who did not want another session (17%). Attendance at this familial colorectal cancer clinic alleviated worry for many individuals, partly due to improved information about risk of colorectal cancer.

Mitochondrial genetics is complicated by heteroplasmy, or mutant load, which may be from 1%-99%, and thus may produce a gene dosage-type effect. Limited data are available for genotype/phenotype correlations in disorders caused by mtDNA mutations; therefore, prenatal diagnosis for mtDNA mutations has been hindered by an inability to predict accurately the clinical severity expected from a mutant load measured in fetal tissue. After reviewing 44 published and 12 unpublished pedigrees, we considered the possibility of prenatal diagnosis for two common mtDNA mutations at nucleotide 8993. We related the severity of symptoms to the mutant load and predicted the clinical outcome of a given mutant load. We also used the available data to generate empirical recurrence risks for genetic counseling, which may be used in conjunction with prenatal diagnosis.