Date of Award


Degree Type


Degree Name

Master of Science (MS)


Health Care Research


H.D. Walker


The organization of Health Care in Canada is such that many of the crucial decisions affecting the health of our population are made by politicians whose previous experience has not been in the health sector. This thesis is an attempt to present some of the medical and economic issues related to the prenatal diagnosis of disease in a form which can be readily understood by individuals who are neither physicians nor economists.

The technology responsible for prenatal diagnosis has developed very rapidly over the past few years and now the need for an evaluation of the potential role of these techniques in, the prevention of serious genetic disease is widely recognized. This thesis evaluates the effects of prenatal diagnosis on Down's Syndrome, which is the most common serious genetic disease identified in this way, but many of the findings can be applied to other serious genetic disorders.

The extent of the problem presented by Down's Syndrome was evaluated by reviewing the literature related to the medical, developmental and epidemiological characteristics of the disease. The findings indicate that this serious disorder is fundamentally irreversible despite the major effects that are made to provide special medical, educational and residential facilities for affected individuals. In addition, Down's Syndrome is a relatively common disorder and it is estimated that there are approximately 130 affected infants born each year and that there are 9,000 affected individuals in Ontario at the present time. The specific cause of the disorder remains unknown although the increasing incidence of affected infants with advancing maternal age is well recognized. The new techniques of prenatal diagnosis and selective abortion offer the only effective method of preventing the birth of these seriously and irreversibly handicapped infants.

The procedures involved in obtaining a prenatal diagnosis are reviewed in some detail and it is concluded that the techniques are both medically safe and diagnostically reliable when provided by experienced personnel. Parents are offered a therapeutic abortion when a defective fetus is identified and although a mid-trimester abortion is associated with some morbidity and mortality, the risks are not greater than those associated with a full-term delivery. These findings suggest that prenatal diagnosis could be made available to all those parents who would benefit from health information of this sort without imposing unacceptable health hazards.

A major section of this thesis devoted to the evaluation of the economic effects of a program proving prenatal diagnosis, using the technique of cost-benefit analysis. The implications of several diagnostic and patient management policies are examined and the results indicate that prenatal diagnosis should be offered to all women aged 35 years or more. The use of less conservative estimates would suggest that the service could be extended to younger women and still remain economically feasible.

The final conclusion, based on medical economic and administrative considerations is that the existing prenatal diagnosis programs should be expanded to provide this service to all women aged 35 or over as soon as possible.

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