生化产前诊断的基本概念。
Basic concepts in biochemical antenatal diagnosis.
作者信息
Grebner E E
机构信息
Division of Medical Genetics, Thomas Jefferson University, Philadelphia, Pennsylvania.
出版信息
Obstet Gynecol Clin North Am. 1993 Sep;20(3):421-31.
PMID:8278142
Abstract
The biochemical test for each inherited metabolic disorder is unique. Each is complex and requires considerable experience for proper interpretation. All have inherent pitfalls that can be exaggerated by improper test procedures or inadequate tissue samples. An accurate prenatal diagnosis depends on having a reliable assay, competently performed, using a well-prepared sample.
摘要
针对每种遗传性代谢紊乱的生化检测都是独特的。每种检测都很复杂，需要相当多的经验才能进行正确解读。所有检测都有内在的缺陷，不当的检测程序或不充分的组织样本可能会使这些缺陷被放大。准确的产前诊断取决于拥有一个可靠的检测方法，由技术娴熟的人员使用精心准备的样本进行检测。
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