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Reproductive decision making of aunts and uncles of a child with cystic fibrosis: Genetic risk perception and attitudes toward carrier identification and prenatal diagnosis

1992; Wiley; Volume: 44; Issue: 1 Linguagem: Inglês

10.1002/ajmg.1320440124

1096-8628

Lieve Denayer, Gerry Evers‐Kiebooms, K. De Boeck, Herman Van den Berghe,

Prenatal Screening and Diagnostics

This paper evaluates the perceived genetic risk, the perceived burden, the impact on reproductive decision making, and the attitudes of aunts and uncles of a child with cystic fibrosis toward carrier identification, prenatal diagnosis, and pregnancy termination. A mailed questionnaire was sent to the aunts and uncles of 32 CF children (1) who attended the Paediatric Department of the University Hospital and (2) whose parents agreed to give the names and addresses of their sibs. The results for the 109 respondents aged less than 40 years are discussed. About one-fourth of them was aware of the "approximate" level of the risk to be a carrier of the CF gene and/or of the risk of having a CF child themselves. Nevertheless the subjective evaluation of the genetic risk has played a part in the reproductive decision-making process of at least 39% of the respondents. About three-fourths would (probably) make use of heterozygote detection and would (probably) ask for prenatal diagnosis should they become pregnant. It is striking that less than half of the group would interrupt the pregnancy should the fetus be affected. The intention to use prenatal diagnosis was significantly correlated with age and educational level while the acceptance of pregnancy interruption was significantly correlated with perceived burden, respondents' age, and health situation of the proband.Aunts and uncles of cystic fibrosis (CF) patients have a 1 in 2 chance of being a carrier of the CF gene and a risk of 1 in 160 to 1 in 240 to have a CF child themselves. A questionnaire was mailed to the aunts and uncles of 32 CF children who attended the Pediatric Department of the University Hospital of Leuven, Belgium. The results for the 109 respondents aged less than 40 years indicated that about 1/4 of them was aware of the relative risk of being a carrier of the CF gene and/or of the risk of having a CF child themselves. About 3/4 would (probably) make use of prenatal diagnosis for heterozygote detection in case of pregnancy which was significantly correlated with age and education level. It is striking that less than half of the group would interrupt the pregnancy should the fetus be affected: interruption was significantly correlated with perceived burden, respondents age, and health situation of the proband. Only 27% had worried about their risk of having a CF child, only 8% said they wanted fewer children because of the risk, and only 1 person completely refrained from further progeniture. Perceived risk was evident: 39% of the respondents had thought about the risk when making pregnancy planning decisions, but only 1/4 of the respondents did ask for advice, usually from family members. 44% said they could cope with burden of raising a CF child. 3/4 affirmed that they would use prenatal diagnosis for CF. On the other hand, only 43% would have asked for pregnancy interruption should the fetus have CF. In contrast, 86% of the CF parents would use prenatal diagnosis should a pregnancy occur, but only 65% would ask for pregnancy interruption should the fetus have CF. Perceived burden of raising a CF child and health situation of the proband, the 2 variables with the highest predictive value, explain only 17.5% of variance suggesting that variables, such as personality factors, may be influential.