Riedijk S, Oudesluijs G, Tibben A
Department of Clinical Genetics, Erasmus Medical Centre, P.O. Box 2040, 3000 AC, Rotterdam, The Netherlands,
J Community Genet. 2012 Jul;3(3):213-9. doi: 10.1007/s12687-012-0095-z. Epub 2012 May 15.
To date, little is known about the psychosocial aspects of preconception consultation (PCC) in primary care. PCC in primary care is appropriate for couples and individuals with a reproductive wish. In PCC, non-genetic and genetic risk factors may be identified. Focusing on non-genetic and genetic risk factors in PCC requires the use of different counselling strategies and tools in optimizing the outcome of pregnancy. Addressing lifestyle alterations requires directive counselling, whereas addressing increased genetic risk and its subsequent reproductive options requires non-directiveness. When an increased genetic risk is detected, couples should be informed about their possibilities for not passing on a disease allele. Depending upon the various modes of inheritance and reproductive options, couples may face a variety of psychosocial challenges. This paper aims to provide insights into the psychosocial impact of the genetic aspects of PCC by drawing upon literature and clinical experience in the Clinical Genetics department. Furthermore, this paper provides consideration for future developments regarding preconception genetic screening.
迄今为止,人们对初级保健中孕前咨询(PCC)的社会心理方面知之甚少。初级保健中的PCC适用于有生育意愿的夫妇和个人。在PCC中,可以识别非遗传和遗传风险因素。在PCC中关注非遗传和遗传风险因素需要使用不同的咨询策略和工具来优化妊娠结局。解决生活方式改变问题需要指导性咨询,而解决遗传风险增加及其后续的生殖选择问题则需要非指导性咨询。当检测到遗传风险增加时,应告知夫妇他们不传递疾病等位基因的可能性。根据不同的遗传方式和生殖选择,夫妇可能会面临各种社会心理挑战。本文旨在通过借鉴临床遗传学部门的文献和临床经验,深入探讨PCC遗传方面的社会心理影响。此外,本文还对孕前基因筛查的未来发展进行了思考。