Genetic Counselling Issues in Cystic Fibrosis

被引：7
作者：
Culling, Bronwyn [1 ]
Ogle, Robert [1 ]
机构：
[1] Royal Prince Alfred Hosp, Dept Mol & Clin Genet, Camperdown, NSW 2050, Australia
来源：
PAEDIATRIC RESPIRATORY REVIEWS | 2010年 / 11卷 / 02期
关键词：
cystic fibrosis; genetic counselling; newborn screening; prenatal diagnosis; classification of CFTR mutations; CFTR-RELATED DISORDERS; CLINICAL-PRACTICE; LUNG-DISEASE; IDENTIFICATION; MUTATIONS; PHENOTYPE; GENOTYPE; POPULATION; REARRANGEMENTS; DIAGNOSIS;
D O I：
10.1016/j.prrv.2010.01.001
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
Cystic fibrosis is a chronic condition for which genetic testing offers much for the individuals affected in terms of an early diagnosis and offers timely additional information for families with regard to family planning and prenatal testing. Genetic counselling encompasses a range of clinical issues for families and forms a complementary resource for clinicians caring for people with cystic fibrosis. This review will discuss the range of genetic information readily available to patients and families through genetic counselling. (C) 2010 Elsevier Ltd. All rights reserved.
引用
收藏
页码：75 / 79
页数：5
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