Population‐based carrier screening for cystic fibrosis in Victoria: The first three years experience

Abstract

Carrier screening for CF by obstetricians and general practitioners by cheek swab sample can be successfully undertaken prior to pregnancy or in the early stages of 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.…”

“…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.…”

Carrier screening in preconception consultation in primary care

“…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. Initially (2006) offered through obstetricians in private practice, i.e., requiring referrals in Australia, it was later expanded to GPs in 2007 (Massie et al 2009). Pre-test information is provided by the physician, together with written information about CF and screening.…”

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

“…It is currently a fee-forservice programme with each test costing AUD$220. During the first 3 years of the programme (2006)(2007)(2008), 3,200 individuals were screened, all partners of carriers were screened and carrier couples used the information received to make reproductive decisions (Massie et al 2009). In 2008, we conducted a study exploring the attitudes and outcomes of individuals who accepted CF carrier screening, excluding carrier couples, through this programme (Ioannou et al 2010).…”