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社区中的携带者筛查。

Carrier screening in the community.

作者信息

Brock D J

机构信息

Human Genetics Unit, University of Edinburgh, Western General Hospital, Edinburgh, UK.

出版信息

J Inherit Metab Dis. 1995;18(4):525-32. doi: 10.1007/BF00710064.

DOI:10.1007/BF00710064
PMID:7494411
Abstract

A number of different models of cystic fibrosis (CF) carrier screening have now been tested in pilot trials. Apart from opportunistic and cascade testing (which are strictly speaking not true forms of screening), the major programmes have been directed either to young adults in primary care or to pregnant women in antenatal clinics. Only in the latter form of screening has sufficient data been collected to allow conclusions to be reached on the optimum mode of delivery. It seems very probable that when CF carrier screening passes into routine service, it will be the antenatal couple model that is used.

摘要

目前,多种不同的囊性纤维化(CF)携带者筛查模式已在试点试验中进行了测试。除了机会性检测和级联检测(严格来说,这并非真正的筛查形式)外,主要方案要么针对初级保健中的年轻人,要么针对产前诊所中的孕妇。只有在后一种筛查形式中收集了足够的数据,才能就最佳实施方式得出结论。当CF携带者筛查进入常规服务时,很可能会采用产前夫妇筛查模式。

相似文献

1
Carrier screening in the community.社区中的携带者筛查。
J Inherit Metab Dis. 1995;18(4):525-32. doi: 10.1007/BF00710064.
2
Carrier screening for cystic fibrosis.囊性纤维化的携带者筛查。
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3
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4
Acceptability of carrier screening for cystic fibrosis during pregnancy in a German population.德国人群中孕期囊性纤维化携带者筛查的可接受性。
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Antenatal screening for cystic fibrosis: a trial of the couple model.囊性纤维化的产前筛查:夫妻模式试验
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Stepwise or couple antenatal carrier screening for cystic fibrosis?: women's preferences and willingness to pay.囊性纤维化的逐步或联合产前携带者筛查:女性的偏好与支付意愿。
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本文引用的文献

1
Cascade testing for the identification of carriers of cystic fibrosis.
J Med Screen. 1994 Jul;1(3):159-64. doi: 10.1177/096914139400100305.
2
Uptake of cystic fibrosis testing in primary care: supply push or demand pull?基层医疗中囊性纤维化检测的应用:供应推动还是需求拉动?
BMJ. 1993 Jun 12;306(6892):1584-6. doi: 10.1136/bmj.306.6892.1584.
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First-trimester fetal screening of cystic fibrosis in low-risk population.
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4
Screening for carriers of cystic fibrosis among pregnant women: a pilot study.
Eur J Hum Genet. 1993;1(3):239-44. doi: 10.1159/000472417.
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Active cascade testing for carriers of cystic fibrosis gene.对囊性纤维化基因携带者进行活性级联检测。
BMJ. 1994 Jun 4;308(6942):1462-7. doi: 10.1136/bmj.308.6942.1462.
6
Antenatal screening for cystic fibrosis: a trial of the couple model.囊性纤维化的产前筛查:夫妻模式试验
BMJ. 1994 Jun 4;308(6942):1459-62. doi: 10.1136/bmj.308.6942.1459.
7
Beta-thalassemia disease prevention: genetic medicine applied.β地中海贫血疾病预防:应用的基因医学
Am J Hum Genet. 1984 Sep;36(5):1024-38.
8
A private view of heterozygosity: eight-year follow-up study on carriers of the Tay-Sachs gene detected by high school screening in Montreal.杂合性的个体观察:对在蒙特利尔高中筛查中检测出的泰-萨克斯基因携带者的八年随访研究
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Worldwide survey of the delta F508 mutation--report from the cystic fibrosis genetic analysis consortium.囊性纤维化跨膜传导调节因子(CFTR)基因F508缺失突变的全球调查——来自囊性纤维化遗传分析联盟的报告
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10
Cystic fibrosis carrier screening by DNA analysis: a pilot study of attitudes among participants.通过DNA分析进行囊性纤维化携带者筛查:参与者态度的一项试点研究。
Am J Hum Genet. 1991 Jul;49(1):240-2.