LABORATORY SCREENING FOR GENETIC-DISORDERS AND BIRTH-DEFECTS

被引：8

作者：

BAMFORTH, FJ

机构：

[1] Department of Laboratory Medicine and Pathology, University of Alberta Hospitals, Edmonton, Alta. T6G 2B7

来源：

CLINICAL BIOCHEMISTRY | 1994年 / 27卷 / 05期

关键词：

SCREENING; NEWBORN; PRENATAL; HETEROZYGOTE;

D O I：

10.1016/0009-9120(94)90037-X

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

Screening for inherited disease is a preventative health measure that started in the 1960s with the development of programs for the detection of PKU in newborns and that has had a major impact on reducing the burden of disease. Developments in technology have led to the availability of large scale testing for an increasing number of both acquired and genetic disorders. Laboratory testing is on ly one facet of a screening program and consideration should be given to availability of testing to all individuals, education regarding the program, effectiveness of treatment, long-term benefits both for individuals and society, ethical issues, and cost benefits. In this review, newborn, prenatal, and heterozygote screening are discussed.

引用

页码：333 / 342

页数：10

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