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遗传咨询师在产前亲子鉴定中能发挥作用吗?——基于对南澳大利亚13年临床经验的审核评估

Is there a Role for Genetic Counselors in Prenatal Paternity Testing? - an Assessment Based on Audit of 13 years of Clinical Experience in South Australia.

作者信息

Riley Kate E, Salvemini Hayley, Haan Eric, Fitzgerald Lara, Stallard Kirsty, Borrie Sarah, Pontikinas Electra, Baxendale Anne

机构信息

Monash Ultrasound for Women, The Epworth Centre, Suite 2.5, Level 2, 32 Erin Street, Richmond, VIC, 3121, Australia.

South Australian Clinical Genetics Service, SA Pathology (at Women's and Children's Hospital), 72 King William Road, North Adelaide, SA, 5006, Australia.

出版信息

J Genet Couns. 2017 Feb;26(1):159-172. doi: 10.1007/s10897-016-9994-1. Epub 2016 Jul 21.

DOI:10.1007/s10897-016-9994-1
PMID:27443149
Abstract

The role of genetic counselors in prenatal paternity testing has not been widely studied in the genetic counseling literature. In South Australia, the genetic counselors of the State's public sector clinical genetics service are the primary contact point for women seeking information and testing, also coordinating the testing process. This has provided the opportunity to review all prenatal paternity testing performed in the State over a 13 year period and to consider the role played by the genetic counselor. We explored the reasons why women requested prenatal paternity testing and whether the genetic counselor was an appropriate health professional to facilitate this testing for women. The study had two parts, an audit of the clinical genetics files of 160 women who requested prenatal paternity testing between March 2001 and March 2014, and qualitative interviews of genetic counselors, clinical geneticists, obstetricians and social workers with involvement in this area. The audit determined that in 69.9 % of cases the long-term partner was the father of the pregnancy, for 23.7 % the short-term or other partner was the father and for 6.4 % the paternity results were not known by the genetic counselor. For 45.5 % of women whose long-term partner was excluded as the father, the women chose to have a termination of pregnancy. The results of the qualitative interviews yielded five major themes: accessibility of testing, role of the genetic counselor, social and relationship issues, decision making in pregnancy and emotional issues. We conclude that the genetic counselor is an appropriate health professional to facilitate prenatal paternity testing. Genetic counselors did not view their role as significantly different from a request for prenatal testing for another indication.

摘要

遗传咨询师在产前亲子鉴定中的作用在遗传咨询文献中尚未得到广泛研究。在南澳大利亚州,该州公共部门临床遗传学服务的遗传咨询师是寻求信息和检测的女性的主要联系点,同时也负责协调检测过程。这为回顾该州在13年期间进行的所有产前亲子鉴定提供了机会,并思考遗传咨询师所发挥的作用。我们探究了女性要求进行产前亲子鉴定的原因,以及遗传咨询师是否是为女性促成此项检测的合适健康专业人员。该研究分为两个部分,一是对2001年3月至2014年3月期间要求进行产前亲子鉴定的160名女性的临床遗传学档案进行审核,二是对参与该领域工作的遗传咨询师、临床遗传学家、产科医生和社会工作者进行定性访谈。审核结果显示,在69.9%的案例中,长期伴侣是胎儿的父亲;23.7%的案例中,短期或其他伴侣是父亲;6.4%的案例中,遗传咨询师不知道亲子鉴定结果。在长期伴侣被排除是父亲的女性中,有45.5%的女性选择终止妊娠。定性访谈的结果产生了五个主要主题:检测的可及性、遗传咨询师的角色、社会和关系问题、孕期决策以及情感问题。我们得出结论,遗传咨询师是促成产前亲子鉴定的合适健康专业人员。遗传咨询师认为他们的角色与因其他指征要求进行产前检测并无显著不同。

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本文引用的文献

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