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A major goal of genetic counseling is to provide reproductive options for couples who are at risk of having a child with a genetically determined disorder. Until about ten years ago, the available options were very limited and, in situations in which the risks were considered to be too high, principally included various means for avoiding conception. For the many families anxious to have children of their own, as well as for those who were counseling them, such options were clearly unsatisfactory. It was therefore with high hopes that the first and, in retrospect, quite bold attempts were made to diagnose genetic disorders pre natally. The principal objective was, and still is, to determine whether a fetus is or is not actually affected, thereby converting probabilities into certainties and permitting the family to decide whether or not to continue the pregnancy. These efforts, which were dependent upon significant advances in cell culture, cy togenetic, and obstetrical techniques, rapidly established the feasibility of pre natal diagnosis and its applicability to a wide variety of genetic problems. It has taken longer, however, to demonstrate that the act of obtaining amniotic fluid by amniocentesis is a procedure with a low enough
Annual Review of Medicine – Annual Reviews
Published: Feb 1, 1978
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