Ten Kate Leo P
Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands,
J Community Genet. 2012 Jul;3(3):159-66. doi: 10.1007/s12687-011-0066-9. Epub 2012 Aug 15.
In this paper I will review different aspects of genetic risk in the context of preconception care. I restrict myself to the knowledge of risk which is relevant for care and/or enables reproductive choice. The paper deals with chromosomes, genes and the genetic classification of diseases, and it explains why Mendelian disorders frequently do not show the expected pattern of occurrence in families. Factors that amplify genetic risk are also discussed. Of the two methods of genetic risk assessment-history taking and genetic screening-the former method is examined to some extent, and the consequences of an inadequate family history are illustrated in a case report. The paper ends with a review of the sparse literature available on the frequency of a positive family history and an outline of the challenges and rewards faced by professionals when confronted with a positive history.
在本文中,我将在孕前保健的背景下回顾遗传风险的不同方面。我将自己局限于与保健相关且能使人们做出生殖选择的风险知识。本文涉及染色体、基因以及疾病的遗传分类,并解释了为什么孟德尔疾病在家族中常常不呈现预期的发病模式。文中还讨论了放大遗传风险的因素。在遗传风险评估的两种方法——病史采集和基因筛查中,本文对前一种方法进行了一定程度的探讨,并通过一个病例报告说明了不充分的家族史所带来的后果。本文最后回顾了关于阳性家族史频率的稀少文献,并概述了专业人员在面对阳性家族史时所面临的挑战和收获。