Acceptability of carrier screening for cystic fibrosis during pregnancy in a German population

Abstract

A pilot project offering voluntary heterozygote screening for the delta F508 mutation causing cystic fibrosis (CF) to 638 pregnant women attending two antenatal clinics in the eastern part of Berlin was carried out from 1990-1993. Participation was invited using an information leaflet and inclusion in the study was conditional on written informed consent. Of those invited to participate, only one refused to be tested, on the grounds of non-acceptance of prenatal diagnosis. Eighteen pregnant women were identified as carriers of the delta F508 mutation. All of them and their male partners accepted counselling in which the genetics of CF, its prognosis and treatment were explained, with emphasis on the meaning of heterozygosity, the fact that carriers are healthy, and the risk of an affected fetus when only one parent is identified as a heterozygote. All partners agreed to be tested for the delta F508 R553X and G551D mutations and a second counselling session was carried out after this test result was available. No problems were observed during initial testing but, as in other studies, we found considerable anxiety on being given the result in all couples where the woman tested positive; this was reduced substantially by counselling and when the partner tested negative. All probands found to be carriers stated that they found screening acceptable. In contrast to the cautious statement by the German Berufsverband Medizinische Genetik and the hostile reaction from a representative of the CF self-support organisation towards community-based heterozygote screening for CF, this study shows that CF screening is generally acceptable in this German population and that it is actively taken up by most pregnant women when offered.

Population-based carrier screening for cystic fibrosis: a systematic review of 23 years of research

“…30,[32][33][34] Pregnant women had similar attitudes toward screening. [35][36][37][38][39] Ninety-eight percent of pregnant women believed that the best time to offer screening is before pregnancy. 23 Nevertheless, 69% indicated they would accept an offer of screening during pregnancy, and 67% said they would utilize prenatal diagnosis.…”

“…74,78 When participants were asked to consider their reproductive intentions if they were found to be a carrier couple, the majority stated that they would not have (more) children, 10,71 would utilize prenatal diagnosis in future pregnancies, 10,52,71 were unsure, or would not terminate an affected fetus. 23,52,57 In actuality, 80-100% of the carrier couples identified utilized prenatal diagnosis, 38,39,41,51,60,66,75,[78][79][80]82,84,85 and the majority terminated an affected fetus. 38,51,60,66,75,79,80,82,84 Only one study reported the continuation of an affected pregnancy, with the carrier couple having twins who were both identified as being affected.…”

“…23,52,57 In actuality, 80-100% of the carrier couples identified utilized prenatal diagnosis, 38,39,41,51,60,66,75,[78][79][80]82,84,85 and the majority terminated an affected fetus. 38,51,60,66,75,79,80,82,84 Only one study reported the continuation of an affected pregnancy, with the carrier couple having twins who were both identified as being affected. 39 The dissemination of information from carriers to other family members about increased risk is often evaluated when exploring the outcomes of screening.…”

Psychosocial aspects of genetic screening of pregnant women and newborns: a systematic review

“…Ten papers [89][90][91][92][93][94][95][96][97][98] refer to knowledge before or around the time of testing.…”

“…One from Edinburgh 98 mentions but does not report pretest knowledge assessments; one from Germany 93 mentions, but does not measure, "beliefs" as an influence on anxiety. The other three papers 92,94,95 report complex and large-scale studies, designed to answer policy questions about how CF carrier screening might be offered in pregnancy.…”