A survey on awareness of genetic counseling for non-invasive prenatal testing: the first year experience in Japan

作者：Yotsumoto Junko; Sekizawa Akihiko; Suzumori Nobuhiro; Yamada Takahiro; Samura Osamu; Nishiyama Miyuki; Miura Kiyonori; Sawai Hideaki; Murotsuki Jun; Kitagawa Michihiro; Kamei Yoshimasa; Masuzaki Hideaki; Hirahara Fumiki; Endo Toshiaki; Fukushima Akimune; Namba Akira; Osada Hisao; Kasai Yasuyo; Watanabe Atsushi; Katagiri Yukiko; Takeshita Naoki; Ogawa Masaki; Okai Takashi; Izumi Shunichiro; Hamanoue Haruka; Inuzuka Mayuko; Haino Kazufumi; Hamajima Naoki

来源：Journal of Human Genetics, 2016, 61(12): 995-1001.

DOI：10.1038/jhg.2016.96

The purpose of this study is to summarize the results from a survey on awareness of genetic counseling for pregnant women who wish to receive non-invasive prenatal testing (NIPT) in Japan. As a component of a clinical study by the Japan NIPT Consortium, genetic counseling was conducted for women who wished to receive NIPT, and a questionnaire concerning both NIPT and genetic counseling was given twice: once after pre-test counseling and again when test results were reported. The responses of 7292 women were analyzed. They expressed high satisfaction with the genetic counseling system of the NIPT Consortium (94%). The number of respondents who indicated that genetic counseling is necessary for NIPT increased over time. Furthermore, they highly valued genetic counseling provided by skilled clinicians, such as clinical geneticists or genetic counselors. The vast majority (90%) responded that there was sufficient opportunity to consider the test ahead of time. Meanwhile, women who received positive test results had a poor opinion and expressed a low-degree satisfaction. We confirmed that the pre-test genetic counseling that we conducted creates an opportunity for pregnant women to sufficiently consider prenatal testing, promotes its understanding and has possibilities to effectively facilitate informed decision making after adequate consideration. A more careful and thorough approach is considered to be necessary for women who received positive test results.

• 出版日期2016-12