Dodge J A, Ryley H C
Arch Dis Child. 1982 Oct;57(10):774-80. doi: 10.1136/adc.57.10.774.
Practicable methods are now available for whole population screening of neonates for cystic fibrosis. Although diagnosis and treatment of the disease from birth has not yet been unequivocally shown to improve prognosis, existing evidence suggests that this is likely. Further ethical reasons are proposed in support of neonatal diagnosis and early treatment. The development of tests for prenatal diagnosis and carrier detection is under active investigation, and raises ethical problems for heterozygotes and their medical advisers. The heavy financial and emotional burden this disease imposes on the patient and the family should not be underestimated when policy decisions are made.
现在已有可行的方法对全体新生儿进行囊性纤维化筛查。虽然尚未明确表明从出生时就对该疾病进行诊断和治疗能改善预后,但现有证据表明有可能。还提出了进一步的伦理理由来支持新生儿诊断和早期治疗。产前诊断和携带者检测测试的开发正在积极研究中,这给杂合子及其医学顾问带来了伦理问题。在做出政策决策时,不应低估这种疾病给患者及其家庭带来的沉重经济和情感负担。