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本文引用的文献

1
Knowledge and perceived risks in couples undergoing genetic testing after recurrent miscarriage or for poor semen quality.反复性流产或精液质量差的夫妇进行基因检测的知识和感知风险。
Reprod Biomed Online. 2011 Oct;23(4):525-33. doi: 10.1016/j.rbmo.2011.07.002. Epub 2011 Jul 13.
2
Profiles and motives for PGD: a prospective cohort study of couples referred for PGD in the Netherlands.PGD 患者特征和动机:荷兰接受 PGD 的夫妇的前瞻性队列研究。
Hum Reprod. 2011 Jul;26(7):1826-35. doi: 10.1093/humrep/der137. Epub 2011 May 9.
3
[Preconceptional carrier screening should not be delayed].孕前携带者筛查不应延迟。
Ned Tijdschr Geneeskd. 2011;155:A3205.
4
Stillbirths: the way forward in high-income countries.死产:高收入国家的前进之路。
Lancet. 2011 May 14;377(9778):1703-17. doi: 10.1016/S0140-6736(11)60064-0. Epub 2011 Apr 13.
5
A prospective study assessing anxiety, depression and maternal-fetal attachment in women using PGD.一项前瞻性研究评估了使用 PGD 的女性的焦虑、抑郁和母婴依恋情况。
Hum Reprod. 2011 Jan;26(1):148-56. doi: 10.1093/humrep/deq281. Epub 2010 Oct 19.
6
Can we make assumptions about the psychosocial impact of living as a carrier, based on studies assessing the effects of carrier testing?基于评估携带者检测效果的研究,我们能否对作为携带者生活的社会心理影响做出假设?
J Genet Couns. 2011 Feb;20(1):80-97. doi: 10.1007/s10897-010-9327-8. Epub 2010 Sep 29.
7
Turkish female immigrants' intentions to participate in preconception carrier screening for hemoglobinopathies in the Netherlands: an empirical study.土耳其女性移民在荷兰参与血红蛋白病孕前携带者筛查的意愿:一项实证研究。
Public Health Genomics. 2010;13(7-8):415-23. doi: 10.1159/000314643. Epub 2010 Aug 31.
8
Molecular prenatal diagnosis: the impact of modern technologies.分子产前诊断:现代技术的影响。
Prenat Diagn. 2010 Jul;30(7):674-81. doi: 10.1002/pd.2575.
9
Re-conceptualizing risk in genetic counseling: implications for clinical practice.重新构想遗传咨询中的风险:对临床实践的影响。
J Genet Couns. 2010 Jun;19(3):228-34. doi: 10.1007/s10897-010-9279-z. Epub 2010 Jan 30.
10
Decisions and ethical issues among BRCA carriers and the use of preimplantation genetic diagnosis.BRCA 携带者的决策和伦理问题及应用胚胎植入前遗传学诊断。
Minerva Med. 2009 Oct;100(5):371-83.

基层医疗中孕前咨询的社会心理层面:来自我们临床遗传学经验的教训

Psychosocial aspects of preconception consultation in primary care: lessons from our experience in clinical genetics.

作者信息

Riedijk S, Oudesluijs G, Tibben A

机构信息

Department of Clinical Genetics, Erasmus Medical Centre, P.O. Box 2040, 3000 AC, Rotterdam, The Netherlands,

出版信息

J Community Genet. 2012 Jul;3(3):213-9. doi: 10.1007/s12687-012-0095-z. Epub 2012 May 15.

DOI:10.1007/s12687-012-0095-z
PMID:22585587
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3419293/
Abstract

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.

摘要

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。