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[Epidemiological data. Neonatal and prenatal screening].

作者信息

Farriaux J P, Dhondt J L

机构信息

Service de Pédiatrie, Hôpital Huriez, CHU, Lille.

出版信息

Rev Pneumol Clin. 1995;51(3):109-14.

PMID:7569571
Abstract

Unlike what is generally thought, cystic fibrosis is not the most frequent hereditary disease. Its frequency is approximately 1/3 200 and varies with the geographic area. The frequency of heterozygous subjects is about 1/28. No country has established a generalized neonatal screening programme, for technical reasons and because there has been no demonstration of a beneficial effect from early care. It would nevertheless be useful to develop experimental programmes defining which protocols might best be established. Antenatal screening can be based on detecting heterozygous subjects, a technically feasible operation, although answers to a large number of questions would be required.

摘要

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Qual Life Res. 2003 Feb;12(1):63-76. doi: 10.1023/a:1022037320039.
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Blood concentrations of pancreatitis associated protein in neonates: relevance to neonatal screening for cystic fibrosis.新生儿胰腺炎相关蛋白的血浓度:与新生儿囊性纤维化筛查的相关性
Arch Dis Child Fetal Neonatal Ed. 1999 Mar;80(2):F118-22. doi: 10.1136/fn.80.2.f118.