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日本羊膜穿刺术用于胎儿核型分析前后的遗传咨询现状:对一家产前检测实验室的产科医院客户的调查

The current state of genetic counseling before and after amniocentesis for fetal karyotyping in Japan: a survey of obstetric hospital clients of a prenatal testing laboratory.

作者信息

Nishiyama Miyuki, Sawai Hideaki, Kosugi Shinji

机构信息

LabCorp Japan, G.K., 2F, Tsukiji MT Building, 2-11-9 Tsukiji, Chuo-ku, Tokyo, 104-0045, Japan,

出版信息

J Genet Couns. 2013 Dec;22(6):795-804. doi: 10.1007/s10897-013-9632-0. Epub 2013 Aug 24.

Abstract

Pregnant women undergoing prenatal genetic testing should receive genetic counseling so they can make informed decisions. We examined the current state of providing genetic counseling in Japan to pregnant women before they elected amniocentesis for prenatal diagnosis of chromosome abnormalities and after test results were completed, and explored the opportunity for expanding access to certified genetic counselors (CGC) at clinical practices offering amniocentesis. An anonymous survey was mailed to the 298 hospitals that referred amniotic fluid specimens to LabCorp Japan in 2009. Most genetic counseling was provided by the obstetrician alone; 73.8 % (76/103) of pre-amniocentesis, 82.5 % (85/103) if normal results, and 49.4 % (44/89) if abnormal results. Respondents spent limited time in genetic counseling; 57.3 % spent <10 min for pre-amniocentesis, 88.3 % spent <10 min for normal results, and 54.0 % spent <20 min for abnormal results. While 45.8 % indicated that CGC do not have an essential role in clinical practice, responses that supported employment of CGC were more likely to come from hospitals that submitted more than ten specimens annually (p < 0.0001), university hospitals (p < 0.0001), and MD geneticists (p = 0.020). Currently, there is limited genetic counseling available in Japan. This indicates there are opportunities for the employment of CGC to improve the quality of genetic counseling.

摘要

接受产前基因检测的孕妇应接受遗传咨询,以便她们能够做出明智的决定。我们调查了日本为孕妇提供遗传咨询的现状,这些孕妇在选择羊膜穿刺术进行染色体异常的产前诊断之前以及检测结果出来之后的情况,并探讨了在提供羊膜穿刺术的临床实践中增加获得认证遗传咨询师(CGC)服务的机会。我们向2009年将羊水标本送检至日本LabCorp的298家医院邮寄了一份匿名调查问卷。大多数遗传咨询仅由产科医生提供;羊膜穿刺术前的咨询中,73.8%(76/103)是这样,检测结果正常时为82.5%(85/103),检测结果异常时为49.4%(44/89)。受访者在遗传咨询上花费的时间有限;57.3%的人在羊膜穿刺术前花费不到10分钟,88.3%的人在检测结果正常时花费不到10分钟,54.0%的人在检测结果异常时花费不到20分钟。虽然45.8%的人表示CGC在临床实践中并非必不可少,但支持聘用CGC的反馈更有可能来自每年送检标本超过十份的医院(p < 0.0001)、大学医院(p < 0.0001)以及医学遗传学家(p = 0.020)。目前,日本的遗传咨询服务有限。这表明聘用CGC有机会提高遗传咨询的质量。

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