ACCEPTABILITY OF CARRIER SCREENING FOR CYSTIC-FIBROSIS DURING PREGNANCY IN A GERMAN POPULATION

A pilot project offering voluntary heterozygote screening for the Delt a F508 mutation causing cystic fibrosis (CF) to 638 pregnant women att ending two antenatal clinics in the eastern part of Berlin was carried out from 1990-1993. Participation was invited using an information le aflet and inclusion in the study was conditional on written informed c onsent. Of those invited to participate, only one refused to be tested , on the grounds of non-acceptance of prenatal diagnosis. Eighteen pre gnant women were identified as carriers of the Delta F508 mutation. Al l of them and their male partners accepted counselling in which the ge netics of CF, its prognosis and treatment were explained, with emphasi s 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 F50 8 R553X and G551D mutations and a second counselling session was carri ed out after this test result was available. No problems were observed during initial testing but, as in other studies, we found considerabl e anxiety on being given the result in all couples where the woman tes ted positive; this was reduced substantially by counselling and when t he partner tested negative. All probands found to be carriers stated t hat they found screening acceptable. In contrast to the cautious state ment by the German Berufsverband Medizinische Genetik and the hostile reaction from a representative of the CF self-support organisation tow ards community-based heterozygote screening for CF, this study shows t hat CF screening is generally acceptable in this German population and that it is actively taken up by most pregnant women when offered.