“Population-Based Carrier Screening for Cystic Fibrosis in Victoria: The First 3 Years Experience”, 2009-09-24 (; backlinks):
Background: Cystic fibrosis (CF) is the most common inherited, life-shortening condition affecting Australian children. The carrier frequency is 1⁄25 and most babies with CF are born to parents with no family history. Carrier testing is possible before a couple has an affected infant.
Aims: To report the outcomes of a carrier screening program for CF.
Method: Carrier screening was offered to women and couples planning a pregnancy, or in early pregnancy, through obstetricians and general practitioners in Victoria, Australia. Samples were collected by cheek swab and posted to the laboratory. 12 CFTR gene mutations were tested. Carriers were offered genetic counselling and partner testing. Carrier couples were offered prenatal testing by chorionic villous sampling (CVS) if pregnant. The number of people tested, carriers detected and pregnancy outcomes were recorded from January 2006 to December 2008.
Results: A total of 3,200 individuals were screened (3,000 females). 106 carriers were identified (1⁄30, 95% confidence interval 1⁄25–1⁄36). All carrier partners were screened, and 9 carrier couples identified (total carriers, 115). 96 individuals (83%) were carriers of the p.508del mutation. Of the 9 carrier couples, 6 were pregnant at the time of screening (5 natural conception and 1 in vitro fertilisation) and all had CVS (mean gestation 12.5 weeks). 2 fetuses were affected, 3 were carriers and 1 was not a carrier. Termination of pregnancy was undertaken for the affected fetuses.
Conclusion: 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.