Aalfs C M, Smets E M A, Leschot N J
Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands.
Community Genet. 2007;10(3):159-68. doi: 10.1159/000101757.
Genetic counselling for familial conditions during pregnancy may have some disadvantages, such as time pressure and induced worry. However, little is known about the reasons for and consequences of this timing of genetic counselling.
The objective of this study was to provide an overview of research aimed at the counselee's reasons for seeking genetic counselling during pregnancy and the medical-technical and procedural consequences thereof.
We searched the databases Medline and PsycINFO for primary research papers, reviews and case reports, published from 1989 to June 2004.
No papers could be retrieved which explicitly addressed our research questions. However, 34 papers, out of a total of 399 papers, covered issues with some relevance to our research questions. Limited knowledge and alertness towards genetics and a greater apparent relevance of genetic issues during pregnancy seemed to explain, at least partly, the timing of referral during pregnancy. Literature on the consequences of this timing for the quality of the genetic counselling process appeared to be scarce. These consequences, therefore, remain unclear.
In the literature, little attention is paid to the various aspects of the timing of genetic counselling for familial conditions during pregnancy. More research on this issue is important, with a view to improving the care of pregnant women and their children.
孕期针对家族性疾病进行遗传咨询可能存在一些弊端,比如时间压力和引发担忧。然而,对于这种遗传咨询时机的原因及后果却知之甚少。
本研究的目的是概述旨在了解咨询对象孕期寻求遗传咨询的原因及其医学技术和程序后果的相关研究。
我们在Medline和PsycINFO数据库中检索了1989年至2004年6月发表的原创研究论文、综述和病例报告。
未检索到明确阐述我们研究问题的论文。然而,在总共399篇论文中,有34篇涉及与我们研究问题有一定相关性的议题。对遗传学的了解有限和警惕性不足,以及孕期遗传问题的明显相关性更高,似乎至少部分解释了孕期转诊的时机。关于这个时机对遗传咨询过程质量的影响的文献似乎很少。因此,这些后果仍不明确。
在文献中,很少关注孕期针对家族性疾病进行遗传咨询时机的各个方面。鉴于改善对孕妇及其子女的护理,对这个问题进行更多研究很重要。