Nobuzane Takahiro, Yamada Takahiro, Miura Kiyonori, Sawai Hideaki, Masuzaki Hideaki, Kudo Yoshiki
Departments of Obstetrics and Gynecology, Hiroshima University Graduate School of Biomedical and Health Science, Hiroshima, Japan.
Department of Obstetrics and Gynecology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.
J Obstet Gynaecol Res. 2016 Apr;42(4):375-9. doi: 10.1111/jog.12948. Epub 2016 Feb 18.
In order to investigate the current status of prenatal testing for genetic disorders, we conducted a multicenter retrospective questionnaire survey.
The questionnaire was sent to 105 facilities with genetic counseling systems. The questionnaire consisted of two parts: (i) the number of prenatal tests conducted for genetic disorders from January 2010 to December 2012, whether the laboratory was combined with the counseling facility or separate, the sampling procedure method, the testing results, and the outcomes of the affected fetus in addition to treatment; and (ii) a survey of personal comments regarding prenatal testing for genetic disorders.
We received responses from 69 of the 105 facilities (65.7%), and genetic testing was performed at 26 of these facilities. Nucleic acid sequential testing was performed on 45 disorders and 252 cases during a three-year period. There were 67 cases of affected fetuses. Six cases continued pregnancy and were treated. The comment survey highlighted difficulties in locating a laboratory to assess prenatal samples, as well as inadequate counseling and preparation for genetic disorders.
Our study revealed that a number of prenatal testing for genetic disorders are conducted in Japan; however, it is difficult for counselors to locate a laboratory capable of testing for specific genetic disorders. Inadequate counseling and healthcare providers' lack of knowledge is a current problem. A well-established system of prenatal testing for genetic disorders and the further education of general physicians is required.
为调查遗传性疾病产前检测的现状，我们开展了一项多中心回顾性问卷调查。
问卷被发送至105家设有遗传咨询系统的机构。问卷由两部分组成：（i）2010年1月至2012年12月间针对遗传性疾病进行的产前检测数量、实验室是与咨询机构合并还是独立、采样程序方法、检测结果以及除治疗外受影响胎儿的结局；（ii）关于遗传性疾病产前检测的个人意见调查。
105家机构中有69家（65.7%）回复了问卷，其中26家机构进行了基因检测。在三年期间，针对45种疾病和252例病例进行了核酸序列检测。有67例受影响胎儿。6例继续妊娠并接受了治疗。意见调查突出了在寻找评估产前样本的实验室方面存在困难，以及在遗传性疾病咨询和准备方面不足。
我们的研究表明，日本进行了多项遗传性疾病产前检测；然而，咨询师很难找到能够检测特定遗传性疾病的实验室。咨询不足和医疗保健提供者知识欠缺是当前的一个问题。需要建立完善的遗传性疾病产前检测系统，并对普通医生进行进一步教育。
