Cystic fibrosis carrier screening in two New South Wales country towns

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

“…74,81,86 Psychological factors associated with screening for cF carrier status Concerns have been raised over the potential psychological harm of population screening for CF carrier status. Although there was an increase in anxiety on receiving a positive test result, 42,50,67,74,79,83 this dissipated once partners were tested and found to be negative, 65,79,83 following genetic counseling, 71,78 or after a period of 3-6 months. 42,50,71 Anxiety appears to be transient among carriers, with little to no anxiety present at 6-12 months or more after testing.…”

“…Although there was an increase in anxiety on receiving a positive test result, 42,50,67,74,79,83 this dissipated once partners were tested and found to be negative, 65,79,83 following genetic counseling, 71,78 or after a period of 3-6 months. 42,50,71 Anxiety appears to be transient among carriers, with little to no anxiety present at 6-12 months or more after testing. 65,74,78 There was no significant difference in anxiety between carriers and noncarriers 37,39,73,78,84 and between those who were screened and those not screened.…”

“…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.…”

Cost-effectiveness of a school-based Tay-Sachs and cystic fibrosis genetic carrier screening program

“…The genetic carrier rate in the general Australian population has been estimated as approximately 1 in 26. 4,5 The rationale for preconceptional genetic carrier screening is that awareness of carrier status can influence reproductive choices; couples where both partners are known genetic carriers may alter their plans to have a family, or use reproductive techniques that allow them to avoid having an affected child. Further, in some Orthodox religious Ashkenazi Jewish communities it is an accepted practice to avoid marriages between known genetic carriers of a number of genetic disorders common in these communities, including TSD and CF.…”