Population-based carrier screening for cystic fibrosis in Victoria: the first three years experience.
BACKGROUND
Cystic fibrosis (CF) is the most common inherited, life-shortening condition affecting Australian children. The carrier frequency is one per 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.


OBJECTIVE
To report the outcomes of a carrier screening program for CF.


METHODS
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. Twelve 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 3200 individuals were screened (3000 females). One hundred and six carriers were identified (one per 30, 95% confidence interval one per 25, one per 36). All carrier partners were screened, and nine carrier couples identified (total carriers 115). Ninety-six individuals (83%) were carriers of the p.508del mutation. Of the nine carrier couples, six were pregnant at the time of screening (five natural conception and one in vitro fertilisation) and all had CVS (mean gestation 12.5 weeks). Two fetuses were affected, three were carriers and one was not a carrier. Termination of pregnancy was undertaken for the affected fetuses.


CONCLUSIONS
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.
Massie
John
J
Department of Respiratory Medicine, Murdoch Children's Research Institute Unit, Royal Children's Hospital, Melbourne, Victoria 3052, Australia. john.massie@rch.org.au
Petrou
Vicki
V
Forbes
Robyn
R
Curnow
Lisette
L
Ioannou
Liane
L
Dusart
Desiree
D
Bankier
Agnes
A
Delatycki
Martin
M
D003550:Cystic Fibrosis / Q000235:genetics / Q000517:prevention & control*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D008403:Mass Screening; D016742:Preconception Care; D011247:Pregnancy; D014739:Victoria
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator