Carrier screening for cystic fibrosis: Test acceptance and one year follow-up

Abstract

We identified 124 carriers among 4,879 patients of prenatal care providers in the Rochester region. Six factors were identified that together permitted a correct classification regarding test acceptance for 77.5% of all subjects. For those pregnant, the most influential of these factors was a more accepting attitude toward abortion. As an indication for abortion, cystic fibrosis (CF) ranked between mild and moderate mental retardation. Of the 124 carrier women identified, we obtained 1-year follow-up information on 100. Mean score for CF knowledge at 1 year (77.4 +/- 13.2%), although significantly lower than immediately after counseling (84 +/- 12.4%), was still significantly higher than after detection but before counseling (51.1% +/- 20.7%). Anxiety about having a child with CF significantly declined from 25.8 +/- 8.0 SD immediately after counseling to 18.9 +/- 7.8 at 1 year (Spielberger State Anxiety Scale). Although 15 carriers regretted having been tested, 83% believed that they benefited from testing, 83% would make the same decision to be tested over again, and 79% would recommend testing to a friend. We conclude that, for most women, CF carrier screening accomplished its purpose: most carriers detected came for counseling, had their partners tested, and, if their partners were also carriers, had prenatal diagnosis. The major undesirable outcomes were that many women testing negative did not understand that a negative result did not exclude being a carrier and that three women found to be carriers did not have their partners tested because of anxiety or the unacceptability of pregnancy termination and therefore may not have carefully considered their decision to be tested. Both of these undesirable outcomes could have been avoided by greater attention to pretest patient education by the primary care provider.

‘No thanks’—reasons why pregnant women declined an offer of cystic fibrosis carrier screening

“…Similarly, another study found that nonpregnant women often cited that abortion and religious beliefs are important factors in the decision whether or not to have screening (Clayton et al 1996). In a number of studies that explored the reasons for declining CF carrier screening, all found that a main reason for declining screening was not intending to terminate a pregnancy (Cuckle et al 1996;Levenkron et al 1997;Livingstone et al 1993;Loader et al 1996;Mennie et al 1992). Of the participants who wished to be offered testing at another time, the majority would have liked to receive an offer of screening prior to pregnancy.…”

Carrier screening in preconception consultation in primary care

“…Non-pregnant women represented just 10% of those offered testing. Follow-up 1 year later suggested that "most of the adverse outcomes observed in this trial could have been avoided by more effective patient education by the primary care provider" (Levenkron et al 1997). In Victoria, Australia, CF carrier screening is offered as a feefor-service (AUD$200 per person) to women planning pregnancies and those in early pregnancy.…”

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

“…42,50,53,64,73 Individual carrier status did not affect reproductive intentions or behaviors, with carriers not altering their reproductive plans after receiving a positive test result. [65][66][67]71,73,[76][77][78] Screening of partners of carriers to determine risk of having a child with CF had an uptake of 61-100%, 20,36,52,74,[78][79][80][81][82][83] with reasons for partners not being tested being as follows: anxiety about result; would be tested when planning to start a family; would not alter reproductive plans; and had no further reproductive plans. 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.…”

“…[65][66][67]71,73,[76][77][78] Screening of partners of carriers to determine risk of having a child with CF had an uptake of 61-100%, 20,36,52,74,[78][79][80][81][82][83] with reasons for partners not being tested being as follows: anxiety about result; would be tested when planning to start a family; would not alter reproductive plans; and had no further reproductive plans. 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.…”