The recently acquired ability to identify 97% of CF carriers in an Israeli Ashkenazi population, prompts an evaluation of a nationwide screening programme. In 1993, the programme would first screen and counsel 9,261 parents, then 396 spouses of carrier parents and finally screen 16.5 fetuses where both parents are carriers. Assuming 92% of screened parents choose abortion of fetus screened positive, 2.33 cases of CF will be prevented in 1993 at a direct cost of $781,000. The $326,000 direct costs of preventing a CF case, exceed the lifetime excess direct costs per case of $297,000. However, benefits of screening also accrue to subsequent pregnancies, resulting in a direct benefit ($14.45 million) to cost ($10.39 million) ratio of 1.39/1 for the period 1993-2032. When benefits and costs resulting from mortality changes, work absences and transport costs are included, the benefit ($15.95 million) to cost ($13.88 million) ratio falls to 1.15/1. Benefit-cost ratios are lower for other ethnic groups in Israel, due to lower carrier rates and lower mutation detection abilities. A CF screening programme will increase the freedom of individuals choice, but should be carried out carefully in order to minimize stigmatization and even discrimination against CF carriers.

Epidemiologic data have confirmed the high susceptibility of persons with Down syndrome (DS) to leukemia. The question of proneness to other kinds of cancer is still open. In this study we reassessed the incidence rates of leukemia and other malignancies in Israeli DS subjects, based on the total population. The target population consisted of all DS subjects in Israel in the period of 1948 -1995. Due to incompleteness of data, the target population was not fully achieved, thus the study population was divided into 2 subgroups: subjects born in Israel between 1979 and 1995 (registry group) and currently or past-institutionalized subjects born before 1979 (institution group). The cohort was linked with the Cancer Registry, and cancer cases that had been diagnosed through December 1995 were subsequently identified. Observed incidence rates were compared with expected rates in the general population. Standardized incidence ratios (SIR) and 95% confidence intervals (CI) were computed for each disease category. Analyses were performed separately for each subgroup of the study population. In the registry group, 7 cancer cases were observed, compared with 1.5 expected (SIR ‫؍‬ 4.67, 95% CI 1.9 -9.6), all leukemia cases. For the institution group a total of 17 cancer cases were observed, compared with 12.8 expected. These included 4 cases of leukemia (SIR ‫؍‬ 6.90, 95% CI 1.90 -17.70). An excess of gastric cancer in male subjects (SIR ‫؍‬ 11.9, 95% CI 1.3-42

The aim of this study was to assess risk factors for the excessive infant mortality rates (IMR) of infants with Down's syndrome (DS). The study population included all 847 Jewish DS births in Israel during 1979-83 and 1987-91. Cases were identified through the National DS Registry. Data were abstracted from hospitalisation records. Ninety-one per cent of the DS diagnoses were confirmed by a cytogenetic analysis. The DS IMR were 24.3 times higher than in the general population. Major risk factors affecting DS IMRs were health status, time period of birth and residential arrangement of the infant. Other known risk factors for infant mortality, such as young maternal age, high birth order and low birthweight, had a weaker impact on IMR in the DS population. Our results imply that the current better survival of infants with DS is a function of the changing attitude towards this population. The study identifies a potential for further reduction in the mortality rates of DS infants, provided there is willingness to adopt a more active and supportive treatment and further changes in ethical codes of the public.