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Journal of community genetics, 2012-07, Vol.3 (3), p.159-166
Ort / Verlag
Berlin/Heidelberg: Springer-Verlag
Erscheinungsjahr
2012
Quelle
EZB Free E-Journals
Beschreibungen/Notizen
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.