To investigate how parents who have had genetic counseling perceive the problems created by being at risk, transcripts of open-ended, semistructured follow-up interviews with 53 counselees were analyzed qualitatively. Rate information, though recalled accurately by parents considering further childbearing, was discounted as impersonal, and subjects overwhelmingly perceived the chance of recurrence in binary form -- it either will or will not happen. By processing rates this way, they simplified probabilistic information and shifted their focus to the implications of being at risk and the potential impact of that which might or might not occur. The many uncertainties they faced, the "consequences" of being at risk that parents felt had to be resolved during the decision-making process, fell into 3 major categories: uncertainty that arose because of the ambiguous impact and meaning of having an affected child; uncertainty about how to make a choice and how others would view it, the burden of decision-making; and uncertainty about their ability to fulfill their roles as parents. These issues were perceived as part of the problem to be resolved and were consolidated into "scenarios" in which the parents "tried out the worst." This analysis of counselees' perceptions of the problems created by being at genetic risk suggests that parents may process the disparate facts of their situation in common ways that emphasize their uncertainty, and it indicates that how parents perceive factual information may be more important in orienting their deliberations than what these facts (diagnosis, prognosis, risks) actually are.
SUMMARY The frequency of various anomalies was compared in probands with Fanconi anaemia and their affected sibs. As probands are usually ascertained because of a 'characteristic' array of physical anomalies, the frequencies of these specific anomalies may be overestimated in probands, whereas their affected sibs may provide a more accurate estimate.The frequencies of growth retardation, skin hyperpigmentation, radial ray deformities, radial ray reduction deformities, hypogenitalia, and supernumerary thumbs were significantly lower in the affected sibs of probands than in probands. Since 25% of the affected sibs had no dysmorphic features, absence of dysmorphism is not sufficient to rule out the diagnosis.
To explore verbal communication between family and counselor, transcripts of 30 tape-recorded or observed genetic counseling sessions are analyzed qualitatively. In half the cases, available data did not allow counselors to give parents a single estimate of the recurrence rate. Moreover, limits on the language available for communicating small probabilities made common the use of nonnumerical statements about a family's chance of having an abnormal child. Counselees processed the factual information they were given, most commonly translating recurrence rates in ways that emphasized the uncertainties associated with them. They tended to view these rates in binary form and requested guidelines for their behavior, indicating uncertainty about how to proceed with reproductive decision-making. The findings suggest that strategies for processing information are an important element influencing parental perspectives on and approaches to the problems created by being at-risk and to possible courses of action.
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