作者
John Massie, Vicki Petrou, Robyn Forbes, Lisette Curnow, Liane Ioannou, Desiree Dusart, Agnes Bankier, Martin Delatycki
发表日期
2009/10
期刊
Australian and New Zealand Journal of Obstetrics and Gynaecology
卷号
49
期号
5
页码范围
484-489
出版商
Blackwell Publishing Asia
简介
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.
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. 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 …
引用总数
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学术搜索中的文章
J Massie, V Petrou, R Forbes, L Curnow, L Ioannou… - Australian and New Zealand Journal of Obstetrics and …, 2009