The frequency and economic burden of genetic disease in a pediatric hospital in Mexico City.

A survey of 2,945 admissions to the National Institute of Pediatrics, México, was undertaken to document the frequency and burden of genetic disorders. Patients were classified into five categories: single gene disorders; chromosomal disorders; complex genetic etiology; unknown etiology, and nongenetic disorders. Of all admissions studied, 4.3% had a genetic disease (categories 1 and 2); 33.5% had a partly genetic condition (category 3); 13.8% had a disorder of unknown etiology; and 48.4% had an environmental disease. In terms of economic burden, patients with genetic or partly genetic disorders came more frequently from outside the city and had more and longer admissions with a higher number of surgeries. The results suggest that genetic disease, although less frequent than disease caused by environmental conditions, lays a considerable financial burden on the hospital and on the affected families. The need to create genetic units in developing countries is emphasized.

[Cost-benefit analysis of amniocentesis in the prenatal diagnosis of chromosome abnormalities]. / Analyse coût-bénéfice du diagnostic prénatal des anomalies chromosomiques par amniocentèse.

The article presents a cost-benefit analysis of amniocentesis for detection of chromosomal anomalies based on data (1985/87) collected in the Marseille area. In this geographic area, it is possible to confront, in an exhaustive manner, pregnant women's access to amniocentesis and incidence of fetal anomalies due to chromosomal aberrations. Results show that prenatal diagnosis is highly cost-beneficial, the average cost of one "avoided" case of Down's syndrome being lower than the lifelong costs of care for such a child. However, the study emphasizes that the cost-benefit ratio is highly sensitive to the implicit value society affects to the loss of "normal" fetuses through spontaneous abortions provoked by amniocentesis and because of terminations of pregnancy following diagnosis of minor fetal anomalies. The study also shows that lowering maternal age limit for access to free-of-charge amniocentesis from the current 38 years of age to 35 would have been cost-beneficial. Such lowering of the maternal age limit is discussed and compared with other indications which might be used for systematic access to amniocentesis.

Reciprocal translocations in pigs. Their detection and consequences on animal performance and economic losses.

In France, the national computerized program for sow herd management regularly delivers a listing of hypoprolific boars for which a cytogenetic evaluation is required, and participates in the differential diagnosis of the other causes of reduced prolificacy. Two reciprocal translocations, 4/14 and 7/15, reducing the prolificacy by about 45 percent have been discovered since 1979. A third one, leading to a prolificacy reduction of about 28 percent, is described in the present paper. The effects of translocation 4/14 were studied in an experimental herd, in which the ovulation rate did not seem to be modified and the early embryonic mortality accounted for the decrease in litter size. The growth rate at day 35 was higher in piglets carrying the chromosomal abnormality than in their normal littermates, i.e., 215 vs. 182 g per day (P less than 0.10). The economic consequences of using a boar carrying a translocation on a group of 21 sows were estimated by means of a simulation model "Porsim." When prolificacy decreased by five piglets per litter, the losses represented 157 piglets, i.e., about $4000. If, in addition to this, the percentage of non-returns into heat decreased by 35 percent, the losses then represented 248 piglets, i.e., $6000. Because of this important economic risk, it is suggested that measures be taken to detect defective animals and to prevent their use.

The growing demand for midtrimester amniocentesis: a systems approach to forecasting the need for facilities.

A predicted shift in composition of the child-bearing population of the United States to higher maternal ages by year 2000 indicates that the number of chromosomally abnormal offspring of women age 35 and over will increase by 64% while the total number of women increases only 21%. We formulated a conceptual model of a health care system that predicts demand for amniocentesis from prospective patients in any particular region, the number of defective offspring detected, and the future cost of custodial care using any given level of detection effort. It was found that as capacity of clinic facilities and use by women age 35 and over in the area increased, the expenditure for amniocentesis combined with the cost of custodial care for undetected offspring decreased, assuming termination of affected pregnancies. Use of this model will enable health care managers to anticipate need for facilities, and also guide the formulation of social policy in the provision of new health services by enabling them to take into account the predictable effects of these services upon other public services.