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2. The return of individual genomic results to research participants: design and pilot study of Tohoku Medical Megabank Project

Author

Kawame, Hiroshi, Fukushima, Akimune, Fuse, Nobuo, Nagami, Fuji, Suzuki, Yoichi, Sakurai-Yageta, Mika, Yasuda, Jun, Yamaguchi-Kabata, Yumi, Kinoshita, Kengo, Ogishima, Soichi, Takai, Takako, Kuriyama, Shinichi, Hozawa, Atsushi, Nakaya, Naoki, Nakamura, Tomohiro, Minegishi, Naoko, Sugawara, Junichi, Suzuki, Kichiya, Tomita, Hiroaki, Uruno, Akira, Kobayashi, Tomoko, Aizawa, Yayoi, Tokutomi, Tomoharu, Yamamoto, Kayono, Ohneda, Kinuko, Kure, Shigeo, Aoki, Yoko, Katagiri, Hideki, Ishigaki, Yasushi, Sawada, Shojiro, Sasaki, Makoto, and Yamamoto, Masayuki

Published
2022
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5. The Health History of First-Degree Relatives' Dyslipidemia Can Affect Preferences and Intentions following the Return of Genomic Results for Monogenic Familial Hypercholesterolemia.

Author

Tokutomi, Tomoharu, Yoshida, Akiko, Fukushima, Akimune, Yamamoto, Kayono, Ishigaki, Yasushi, Kawame, Hiroshi, Fuse, Nobuo, Nagami, Fuji, Suzuki, Yoichi, Sakurai-Yageta, Mika, Uruno, Akira, Suzuki, Kichiya, Tanno, Kozo, Ohmomo, Hideki, Shimizu, Atsushi, Yamamoto, Masayuki, and Sasaki, Makoto

Subjects
FAMILIAL hypercholesterolemia, FAMILY history (Medicine), DYSLIPIDEMIA, GENETIC counseling, GENETIC testing
Abstract

Genetic testing is key in modern healthcare, particularly for monogenic disorders such as familial hypercholesterolemia. This Tohoku Medical Megabank Project study explored the impact of first-degree relatives' dyslipidemia history on individual responses to familial hypercholesterolemia genomic results. Involving 214 participants and using Japan's 3.5KJPN genome reference panel, the study assessed preferences and intentions regarding familial hypercholesterolemia genetic testing results. The data revealed a significant inclination among participants with a family history of dyslipidemia to share their genetic test results, with more than 80% of participants intending to share positive results with their partners and children and 98.1% acknowledging the usefulness of positive results for personal health management. The study underscores the importance of family health history in genetic-testing perceptions, highlighting the need for family-centered approaches in genetic counseling and healthcare. Notable study limitations include the regional scope and reliance on questionnaire data. The study results emphasize the association between family health history and genetic-testing attitudes and decisions. [ABSTRACT FROM AUTHOR]

Published
2024
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6. Stakeholder Perception of the Implementation of Genetic Risk Testing for Twelve Multifactorial Diseases.

Author

Tokutomi, Tomoharu, Yoshida, Akiko, Fukushima, Akimune, Nagami, Fuji, Minoura, Yuko, and Sasaki, Makoto

Subjects
GENETIC risk score, GENETIC testing, RISK perception, MEDICAL personnel, GENOME-wide association studies, PREDICTION models
Abstract

Genome-wide association studies have been employed to develop numerous risk prediction models using polygenic risk scores (PRSs) for multifactorial diseases. However, healthcare providers lack confidence in their understanding of PRS risk stratification for multifactorial diseases, which underscores the need to assess the readiness of PRSs for clinical use. To address this issue, we surveyed the perceptions of healthcare providers as stakeholders in the clinical implementation of genetic-based risk prediction for multifactorial diseases. We conducted a web-based study on the need for risk prediction based on genetic information and the appropriate timing of testing for 12 multifactorial diseases. Responses were obtained from 506 stakeholders. Positive perceptions of genetic risk testing were found for adult-onset chronic diseases. As per participant opinion, testing for adult-onset diseases should be performed after the age of 20 years, whereas testing for psychiatric and allergic disorders that manifest during childhood should be performed from birth to 19 years of age. The stakeholders recognized the need for genetic risk testing for diseases that develop in adulthood, believing that the appropriate testing time is after maturity. This study contributes to the discussion on the clinical implementation of the PRS for genetic risk prediction of multifactorial diseases. [ABSTRACT FROM AUTHOR]

Published
2024
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7. Fetal cell-free DNA fraction in maternal plasma for the prediction of hypertensive disorders of pregnancy

Author

Suzumori, Nobuhiro, Sekizawa, Akihiko, Ebara, Takeshi, Samura, Osamu, Sasaki, Aiko, Akaishi, Rina, Wada, Seiji, Hamanoue, Haruka, Hirahara, Fumiki, Izumi, Haruna, Sawai, Hideaki, Nakamura, Hiroaki, Yamada, Takahiro, Miura, Kiyonori, Masuzaki, Hideaki, Yamashita, Takahiro, Okai, Takashi, Kamei, Yoshimasa, Namba, Akira, Murotsuki, Jun, Tanemoto, Tomohiro, Fukushima, Akimune, Haino, Kazufumi, Tairaku, Shinya, Matsubara, Keiichi, Maeda, Kazutoshi, Kaji, Takashi, Ogawa, Masanobu, Osada, Hisao, Nishizawa, Haruki, Okamoto, Yoko, Kanagawa, Takeshi, Kakigano, Aiko, Kitagawa, Michihiro, Ogawa, Masaki, Izumi, Shunichiro, Katagiri, Yukiko, Takeshita, Naoki, Kasai, Yasuyo, Naruse, Katsuhiko, Neki, Reiko, Masuyama, Hisashi, Hyodo, Maki, Kawano, Yukie, Ohba, Takashi, Ichizuka, Kiyotake, Nagamatsu, Takeshi, Watanabe, Atsushi, Shirato, Nahoko, Yotsumoto, Junko, Nishiyama, Miyuki, Hirose, Tatsuko, and Sago, Haruhiko

Published
2018
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9. Identification of a novel uterine leiomyoma GWAS locus in a Japanese population

Author

Sakai, Kensuke, Tanikawa, Chizu, Hirasawa, Akira, Chiyoda, Tatsuyuki, Yamagami, Wataru, Kataoka, Fumio, Susumu, Nobuyuki, Terao, Chikashi, Kamatani, Yoichiro, Takahashi, Atsushi, Momozawa, Yukihide, Hirata, Makoto, Kubo, Michiaki, Fuse, Nobuo, Takai-Igarashi, Takako, Shimizu, Atsushi, Fukushima, Akimune, Kadota, Aya, Arisawa, Kokichi, Ikezaki, Hiroaki, Wakai, Kenji, Yamaji, Taiki, Sawada, Norie, Iwasaki, Motoki, Tsugane, Shoichiro, Aoki, Daisuke, and Matsuda, Koichi

Published
2020
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11. Recontact: a survey of current practices and BRCA1/2testing in Japan

Author

Sakaguchi, Tomohiro, Tokutomi, Tomoharu, Yoshida, Akiko, Yamamoto, Kayono, Obata, Keiko, Carrieri, Daniele, Kelly, Susan E., and Fukushima, Akimune

Abstract

Genetic testing advances have enabled the provision of previously unavailable information on the pathogenicity of genetic variants, frequently necessitating the recontact of former patients by clinicians. In Japan, national health insurance coverage was extended to BRCA1/2testing for the diagnosis of hereditary breast and ovarian cancer for patients who meet certain criteria in 2020, and conditions necessitating recontact were expected to increase. Studies and discussions regarding recontact have been conducted in the U.S. and Europe; however, in Japan, the national discussion around recontact remains undeveloped. We conducted a cross-sectional study by interviewing 73 facilities accredited by the Japanese Organization of Hereditary Breast and Ovarian Cancer regarding the practice of recontacting patients at these facilities. Sixty-six facilities responded that they recontact patients, but only 17 facilities had a protocol for this. The most common reason for recontact was that it could benefit the patient. Facilities that did not recontact stated that they lacked the necessary personnel or services. Most facilities indicated that a recontact system should be implemented in their practice. The increased burden on too few medical personnel, unestablished systems, patient confusion, and the right not to know were cited as barriers to implementing recontact. Although developing recommendations on recontact would be useful for providing equitable healthcare in Japan, there is an urgent need to deepen the discussion on recontacting, as negative opinions about recontacting patients were observed.

Published
2023
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12. Genetic Predisposition to Ischemic Stroke: A Polygenic Risk Score

Author

Hachiya, Tsuyoshi, Kamatani, Yoichiro, Takahashi, Atsushi, Hata, Jun, Furukawa, Ryohei, Shiwa, Yuh, Yamaji, Taiki, Hara, Megumi, Tanno, Kozo, Ohmomo, Hideki, Ono, Kanako, Takashima, Naoyuki, Matsuda, Koichi, Wakai, Kenji, Sawada, Norie, Iwasaki, Motoki, Yamagishi, Kazumasa, Ago, Tetsuro, Ninomiya, Toshiharu, Fukushima, Akimune, Hozawa, Atsushi, Minegishi, Naoko, Satoh, Mamoru, Endo, Ryujin, Sasaki, Makoto, Sakata, Kiyomi, Kobayashi, Seiichiro, Ogasawara, Kuniaki, Nakamura, Motoyuki, Hitomi, Jiro, Kita, Yoshikuni, Tanaka, Keitaro, Iso, Hiroyasu, Kitazono, Takanari, Kubo, Michiaki, Tanaka, Hideo, Tsugane, Shoichiro, Kiyohara, Yutaka, Yamamoto, Masayuki, Sobue, Kenji, and Shimizu, Atsushi

Published
2017
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14. The return of individual genomic results to research participants: design and pilot study of Tohoku Medical Megabank Project

Author

Kawame, Hiroshi, primary, Fukushima, Akimune, additional, Fuse, Nobuo, additional, Nagami, Fuji, additional, Suzuki, Yoichi, additional, Sakurai-Yageta, Mika, additional, Yasuda, Jun, additional, Yamaguchi-Kabata, Yumi, additional, Kinoshita, Kengo, additional, Ogishima, Soichi, additional, Takai, Takako, additional, Kuriyama, Shinichi, additional, Hozawa, Atsushi, additional, Nakaya, Naoki, additional, Nakamura, Tomohiro, additional, Minegishi, Naoko, additional, Sugawara, Junichi, additional, Suzuki, Kichiya, additional, Tomita, Hiroaki, additional, Uruno, Akira, additional, Kobayashi, Tomoko, additional, Aizawa, Yayoi, additional, Tokutomi, Tomoharu, additional, Yamamoto, Kayono, additional, Ohneda, Kinuko, additional, Kure, Shigeo, additional, Aoki, Yoko, additional, Katagiri, Hideki, additional, Ishigaki, Yasushi, additional, Sawada, Shojiro, additional, Sasaki, Makoto, additional, and Yamamoto, Masayuki, additional

Published
2021
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17. GNAO1 mutation-related severe involuntary movements treated with gabapentin

Author

Akasaka, Manami, primary, Kamei, Atsushi, additional, Tanifuji, Sachiko, additional, Asami, Maya, additional, Ito, Jun, additional, Mizuma, Kanako, additional, Oyama, Kotaro, additional, Tokutomi, Tomoharu, additional, Yamamoto, Kayono, additional, Fukushima, Akimune, additional, Takenouchi, Toshiki, additional, Uehara, Tomoko, additional, Suzuki, Hisato, additional, and Kosaki, Kenjiro, additional

Published
2021
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19. Pregnant women's experiences of non‐invasive prenatal testing (NIPT) in Japan: A qualitative study.

Author

Yamamoto, Kayono, Chang, Hyangri, and Fukushima, Akimune

Abstract

In Japan, prenatal testing does not include a publicly insured routine health check‐up for pregnant women. Hence, taking advantage of such prenatal testing procedures is still not an option for a majority of Japanese women. However, social support systems for children and adults with disabilities have been developed with the assumption that people with disabilities will continue receiving support from their family members, especially their mothers. In this study, we described pregnant women's experiences regarding noninvasive prenatal testing (NIPT) within the context of their physical experiences during the NIPT process, Japanese society, and their medical circumstances. Women with no family history of genetic diseases or fetal disabilities and who had also received negative results after the NIPT explanation were recruited. Altogether, 15 women participated in the biographical narrative interview. The data were subjected to reflexive thematic analysis and signified advanced age for pregnancy as a trigger for both the women's consideration regarding receiving NIPT and interventions from their families and social group members. Participants considered themselves as the main caretaker for the older adults and individuals with disabilities and thus were afraid of the multiple responsibilities inherent in this reality. They were also concerned about the impact on any other siblings if the baby had disabilities. In addition, participants encounter physical and mental changes during the timeframe of the NIPT processes. Hence, as their fetuses mature, the psychological bonds the women develop with them are constantly evolving, and participants with histories of miscarriages or possible miscarriages expressed concerned not only about the results of NIPT but also about the specific possibility of losing their child in any way. In conclusion, the continuous support of these women throughout the NIPT process and social efforts for the improvement of the welfare system for people with disabilities are required to utilize NIPT effectively. [ABSTRACT FROM AUTHOR]

Published
2022
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20. Study Profile of the Tohoku Medical Megabank Community-Based Cohort Study

Author

Hozawa, Atsushi, primary, Tanno, Kozo, additional, Nakaya, Naoki, additional, Nakamura, Tomohiro, additional, Tsuchiya, Naho, additional, Hirata, Takumi, additional, Narita, Akira, additional, Kogure, Mana, additional, Nochioka, Kotaro, additional, Sasaki, Ryohei, additional, Takanashi, Nobuyuki, additional, Otsuka, Kotaro, additional, Sakata, Kiyomi, additional, Kuriyama, Shinichi, additional, Kikuya, Masahiro, additional, Tanabe, Osamu, additional, Sugawara, Junichi, additional, Suzuki, Kichiya, additional, Suzuki, Yoichi, additional, Kodama, Eiichi N, additional, Fuse, Nobuo, additional, Kiyomoto, Hideyasu, additional, Tomita, Hiroaki, additional, Uruno, Akira, additional, Hamanaka, Yohei, additional, Metoki, Hirohito, additional, Ishikuro, Mami, additional, Obara, Taku, additional, Kobayashi, Tomoko, additional, Kitatani, Kazuyuki, additional, Takai-Igarashi, Takako, additional, Ogishima, Soichi, additional, Satoh, Mamoru, additional, Ohmomo, Hideki, additional, Tsuboi, Akito, additional, Egawa, Shinichi, additional, Ishii, Tadashi, additional, Ito, Kiyoshi, additional, Ito, Sadayoshi, additional, Taki, Yasuyuki, additional, Minegishi, Naoko, additional, Ishii, Naoto, additional, Nagasaki, Masao, additional, Igarashi, Kazuhiko, additional, Koshiba, Seizo, additional, Shimizu, Ritsuko, additional, Tamiya, Gen, additional, Nakayama, Keiko, additional, Motohashi, Hozumi, additional, Yasuda, Jun, additional, Shimizu, Atsushi, additional, Hachiya, Tsuyoshi, additional, Shiwa, Yuh, additional, Tominaga, Teiji, additional, Tanaka, Hiroshi, additional, Oyama, Kotaro, additional, Tanaka, Ryoichi, additional, Kawame, Hiroshi, additional, Fukushima, Akimune, additional, Ishigaki, Yasushi, additional, Tokutomi, Tomoharu, additional, Osumi, Noriko, additional, Kobayashi, Tadao, additional, Nagami, Fuji, additional, Hashizume, Hiroaki, additional, Arai, Tomohiko, additional, Kawaguchi, Yoshio, additional, Higuchi, Shinichi, additional, Sakaida, Masaki, additional, Endo, Ryujin, additional, Nishizuka, Satoshi, additional, Tsuji, Ichiro, additional, Hitomi, Jiro, additional, Nakamura, Motoyuki, additional, Ogasawara, Kuniaki, additional, Yaegashi, Nobuo, additional, Kinoshita, Kengo, additional, Kure, Shigeo, additional, Sakai, Akio, additional, Kobayashi, Seiichiro, additional, Sobue, Kenji, additional, Sasaki, Makoto, additional, and Yamamoto, Masayuki, additional

Published
2021
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22. Qualitative investigation of the factors that generate ambivalent feelings in women who give birth after receiving negative results from non-invasive prenatal testing

Author

Yotsumoto, Junko, Sekizawa, Akihiko, Inoue, Satomi, Suzumori, Nobuhiro, Samura, Osamu, Yamada, Takahiro, Miura, Kiyonori, Masuzaki, Hideaki, Sawai, Hideaki, Murotsuki, Jun, Hamanoue, Haruka, Kamei, Yoshimasa, Endo, Toshiaki, Fukushima, Akimune, Katagiri, Yukiko, Takeshita, Naoki, Ogawa, Masaki, Nishizawa, Haruki, Okamoto, Yoko, Tairaku, Shinya, Kaji, Takashi, Maeda, Kazuhisa, Matsubara, Keiichi, Ogawa, Masanobu, Osada, Hisao, Ohba, Takashi, Kawano, Yukie, Sasaki, Aiko, Sago, Haruhiko, Yotsumoto, Junko, Sekizawa, Akihiko, Inoue, Satomi, Suzumori, Nobuhiro, Samura, Osamu, Yamada, Takahiro, Miura, Kiyonori, Masuzaki, Hideaki, Sawai, Hideaki, Murotsuki, Jun, Hamanoue, Haruka, Kamei, Yoshimasa, Endo, Toshiaki, Fukushima, Akimune, Katagiri, Yukiko, Takeshita, Naoki, Ogawa, Masaki, Nishizawa, Haruki, Okamoto, Yoko, Tairaku, Shinya, Kaji, Takashi, Maeda, Kazuhisa, Matsubara, Keiichi, Ogawa, Masanobu, Osada, Hisao, Ohba, Takashi, Kawano, Yukie, Sasaki, Aiko, and Sago, Haruhiko

Abstract

Background: Women who receive negative results from non-invasive prenatal genetic testing (NIPT) may find that they later have mixed or ambivalent feelings, for example, feelings of accepting NIPT and regretting undergoing the test. This study aimed to investigate the factors generating ambivalent feelings among women who gave birth after having received negative results from NIPT. Methods: A questionnaire was sent to women who received a negative NIPT result, and a contents analysis was conducted focusing on ambivalent expressions for those 1562 women who responded the questionnaire. The qualitative data gathered from the questionnaire were analyzed using the N-Vivo software package. Results: Environmental factors, genetic counseling-related factors, and increased anticipatory anxiety, affected the feeling of ambivalence among pregnant women. Furthermore, pregnant women desired more information regarding the detailed prognosis for individuals with Down syndrome and living with them and/or termination, assuming the possibility that they were positive. Conclusions: Three major interrelated factors affected the feeling of ambivalence in women. Highlighting and discussing such factors during genetic counseling may resolve some of these ambivalences, thereby enhancing the quality of decisions made by pregnant women.

Published
2020

29. Qualitative investigation of the factors that generate ambivalent feelings in women who give birth after receiving negative results from non-invasive prenatal testing

Author

Yotsumoto, Junko, primary, Sekizawa, Akihiko, additional, Inoue, Satomi, additional, Suzumori, Nobuhiro, additional, Samura, Osamu, additional, Yamada, Takahiro, additional, Miura, Kiyonori, additional, Masuzaki, Hideaki, additional, Sawai, Hideaki, additional, Murotsuki, Jun, additional, Hamanoue, Haruka, additional, Kamei, Yoshimasa, additional, Endo, Toshiaki, additional, Fukushima, Akimune, additional, Katagiri, Yukiko, additional, Takeshita, Naoki, additional, Ogawa, Masaki, additional, Nishizawa, Haruki, additional, Okamoto, Yoko, additional, Tairaku, Shinya, additional, Kaji, Takashi, additional, Maeda, Kazuhisa, additional, Matsubara, Keiichi, additional, Ogawa, Masanobu, additional, Osada, Hisao, additional, Ohba, Takashi, additional, Kawano, Yukie, additional, Sasaki, Aiko, additional, and Sago, Haruhiko, additional

Published
2020
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30. Qualitative investigation of the factors that generate ambivalent feelings in women who give birth after receiving negative results from non-invasive prenatal testing

Author

Yotsumoto, Junko, primary, Sekizawa, Akihiko, additional, Inoue, Satomi, additional, Suzumori, Nobuhiro, additional, Samura, Osamu, additional, Yamada, Takahiro, additional, Miura, Kiyonori, additional, Masuzaki, Hideaki, additional, Sawai, Hideaki, additional, Murotsuki, Jun, additional, Hamanoue, Haruka, additional, Kamei, Yoshimasa, additional, Endo, Toshiaki, additional, Fukushima, Akimune, additional, Katagiri, Yukiko, additional, Takeshita, Naoki, additional, Ogawa, Masaki, additional, Nishizawa, Haruki, additional, Okamoto, Yoko, additional, Tairaku, Shinya, additional, Kaji, Takashi, additional, Maeda, Kazuhisa, additional, Matsubara, Keiichi, additional, Ogawa, Masanobu, additional, Osada, Hisao, additional, Ohba, Takashi, additional, Kawano, Yukie, additional, Sasaki, Aiko, additional, and Sago, Haruhiko, additional

Published
2019
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31. Factors generating ambivalent feelings in women who gave birth after receiving a negative result on non-invasive prenatal testing: A qualitative study

Author

Yotsumoto, Junko, primary, Sekizawa, Akihiko, additional, Inoue, Satomi, additional, Suzumori, Nobuhiro, additional, Samura, Osamu, additional, Yamada, Takahiro, additional, Miura, Kiyonori, additional, Masuzaki, Hideaki, additional, Sawai, Hideaki, additional, Murotsuki, Jun, additional, Hamanoue, Haruka, additional, Kamei, Yoshimasa, additional, Endo, Toshiaki, additional, Fukushima, Akimune, additional, Katagiri, Yukiko, additional, Takeshita, Naoki, additional, Ogawa, Masaki, additional, Okamoto, Yoko, additional, Tairaku, Shinya, additional, Kaji, Takashi, additional, Maeda, Kazuhisa, additional, Nishizawa, Haruki, additional, Matsubara, Keiichi, additional, Ogawa, Masanobu, additional, Osada, Hisao, additional, Ohba, Takashi, additional, Kawano, Yukie, additional, Sasaki, Aiko, additional, and Sago, Haruhiko, additional

Published
2019
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33. Evaluation of the clinical performance of noninvasive prenatal testing at a Japanese laboratory.

Author

Sasaki, Yuna, Yamada, Takahiro, Tanaka, Shiro, Sekizawa, Akihiko, Hirose, Tatsuko, Suzumori, Nobuhiro, Kaji, Takashi, Kawaguchi, Satoshi, Hasuo, Yasuyuki, Nishizawa, Haruki, Matsubara, Keiichi, Hamanoue, Haruka, Fukushima, Akimune, Endo, Masayuki, Yamaguchi, Masayuki, Kamei, Yoshimasa, Sawai, Hideaki, Miura, Kiyonori, Ogawa, Masaki, and Tairaku, Shinya

Subjects
DIAGNOSIS of Down syndrome, PATHOLOGICAL laboratories, PREDICTIVE tests, PRENATAL diagnosis, CONFIDENCE intervals, GENETIC testing, PREGNANT women, HIGH-risk pregnancy, GESTATIONAL age, CHROMOSOME abnormalities, MATERNAL age, DESCRIPTIVE statistics, TRISOMY 18 syndrome, GENETIC counseling
Abstract

Aim: We aimed to evaluate the sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of noninvasive prenatal testing (NIPT) in high‐risk pregnant women. Methods: Pregnant women who underwent GeneTech NIPT, the most commonly used NIPT in Japan, between January 2015 and March 2019, at Japan NIPT Consortium medical sites were recruited for this study. The exclusion criteria were as follows: pregnant women with missing survey items, multiple pregnancy/vanishing twins, chromosomal abnormalities in the fetus other than the NIPT target disease, and nonreportable NIPT results. Sensitivity and specificity were calculated from the obtained data, and maternal age‐specific PPV and NPV were estimated. Results: Of the 45 504 cases, 44 263 cases fulfilling the study criteria were included. The mean maternal age and gestational weeks at the time of procedure were 38.5 years and 13.1 weeks, respectively. Sensitivities were 99.78% (95% confidence interval [95% CI]: 98.78–99.96), 99.12% (95% CI: 96.83–99.76), and 100% (95% CI: 88.30–100) for trisomies 21, 18, and 13, respectively. Specificities were more than 99.9% for trisomies 21, 18, and 13, respectively. Maternal age‐specific PPVs were more than 93%, 77%, and 43% at the age of 35 years for trisomies 21, 18, and 13, respectively. Conclusion: The GeneTech NIPT data showed high sensitivity and specificity in the detection of fetal trisomies 21, 18, and 13 in high‐risk pregnant women, and maternal age‐specific PPVs were obtained. These results could provide more accurate and improved information regarding NIPT for genetic counseling in Japan. [ABSTRACT FROM AUTHOR]

Published
2021
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34. Vector synthesis high‐resolution electrocardiography, atrial natriuretic peptide and N‐terminal prohormone brain natriuretic peptide for estimation of cardiac load in pregnancy

Author

Tanaka, Shino, Oyama, Rie, Fukushima, Akimune, Kikuchi, Akihiko, and Sugiyama, Toru

Subjects
Adult, vector synthesis high‐resolution electrocardiography RTc dispersion, Postpartum Period, Blood Pressure, Gestational Age, Heart, Original Articles, cardiac load, Peptide Fragments, Body Mass Index, Electrocardiography, Young Adult, Heart Rate, Pregnancy, atrial natriuretic peptide, Natriuretic Peptide, Brain, Humans, Original Article, Female, cardiovascular diseases, N‐terminal prohormone brain natriuretic peptide, hormones, hormone substitutes, and hormone antagonists, Atrial Natriuretic Factor
Abstract

Aim We analyzed atrial natriuretic peptide (ANP), N‐terminal pro‐brain natriuretic natriuretic peptide (NT‐proBNP) and vector synthesis high‐resolution electrocardiography (ECG), to estimate cardiac load with circulatory dynamic change from pregnancy through the post‐partum period. Methods The subjects were singleton pregnant women (n = 19), who were divided into three stages: stage 1, 34–36 weeks of gestation; stage 2, 2–6 post‐partum days; and stage 3, 1–3 months after delivery. Vector synthesis high‐resolution ECG, ANP and NT‐proBNP were analyzed for all subjects. Results A pregnant woman with massive uterin liomyoma expressed largest the corrected recover time (RTc) dispersion in I + II of tow Dimensional (2D) color distribution map ANP and NT‐proBNP were significantly higher in stage 2 than in stages 1 and 3. Conclusions ANP, NT‐proBNP and vector synthesis high‐resolution ECG there might be able to evaluate cardiac load of normal pregnancy.

Published
2016

36. Ambivalence among women who gave birth after receiving a negative result on non-invasive prenatal testing: a qualitative study

Author

Yotsumoto, Junko, primary, Sekizawa, Akihiko, additional, Inoue, Satomi, additional, Suzumori, Nobuhiro, additional, Samura, Osamu, additional, Yamada, Takahiro, additional, Miura, Kiyonori, additional, Masuzaki, Hideaki, additional, Sawai, Hideaki, additional, Murotsuki, Jun, additional, Hamanoue, Haruka, additional, Kamei, Yoshimasa, additional, Endo, Toshiaki, additional, Fukushima, Akimune, additional, Katagiri, Yukiko, additional, Takeshita, Naoki, additional, Ogawa, Masaki, additional, Okamoto, Yoko, additional, Tairaku, Shinya, additional, Kaji, Takashi, additional, Maeda, Kazuhisa, additional, Nishizawa, Haruki, additional, Matsubara, Keiichi, additional, Ogawa, Masanobu, additional, Osada, Hisao, additional, Ohba, Takashi, additional, Kawano, Yukie, additional, Sasaki, Aiko, additional, and Sago, Haruhiko, additional

Published
2019
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37. Classification of factors involved in nonreportable results of noninvasive prenatal testing (NIPT) and prediction of success rate of second NIPT

Author

Suzumori, Nobuhiro, primary, Sekizawa, Akihiko, additional, Takeda, Eri, additional, Samura, Osamu, additional, Sasaki, Aiko, additional, Akaishi, Rina, additional, Wada, Seiji, additional, Hamanoue, Haruka, additional, Hirahara, Fumiki, additional, Kuriki, Hiroko, additional, Sawai, Hideaki, additional, Nakamura, Hiroaki, additional, Yamada, Takahiro, additional, Miura, Kiyonori, additional, Masuzaki, Hideaki, additional, Yamashita, Takahiro, additional, Kamei, Yoshimasa, additional, Namba, Akira, additional, Murotsuki, Jun, additional, Tanemoto, Tomohiro, additional, Fukushima, Akimune, additional, Haino, Kazufumi, additional, Tairaku, Shinya, additional, Matsubara, Keiichi, additional, Maeda, Kazutoshi, additional, Kaji, Takashi, additional, Ogawa, Masanobu, additional, Osada, Hisao, additional, Nishizawa, Haruki, additional, Okamoto, Yoko, additional, Kanagawa, Takeshi, additional, Kakigano, Aiko, additional, Endo, Masayuki, additional, Kitagawa, Michihiro, additional, Ogawa, Masaki, additional, Izumi, Shunichiro, additional, Katagiri, Yukiko, additional, Takeshita, Naoki, additional, Kasai, Yasuyo, additional, Naruse, Katsuhiko, additional, Neki, Reiko, additional, Masuyama, Hisashi, additional, Hyodo, Maki, additional, Kawano, Yukie, additional, Ohba, Takashi, additional, Ichizuka, Kiyotake, additional, Nagamatsu, Takeshi, additional, Watanabe, Atsushi, additional, Nishikawa, Naomi, additional, Hamajima, Naoki, additional, Shirato, Nahoko, additional, Yotsumoto, Junko, additional, Nishiyama, Miyuki, additional, Koide, Keiko, additional, Hirose, Tatsuko, additional, and Sago, Haruhiko, additional

Published
2019
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38. Genome-wide association study (GWAS) of ovarian cancer in Japanese predicted regulatory variants in 22q13.1

Author

Yodsurang, Varalee, primary, Tang, Yaqi, additional, Takahashi, Yukie, additional, Tanikawa, Chizu, additional, Kamatani, Yoichiro, additional, Takahashi, Atsushi, additional, Momozawa, Yukihide, additional, Fuse, Nobuo, additional, Sugawara, Junichi, additional, Shimizu, Atsushi, additional, Fukushima, Akimune, additional, Hishida, Asahi, additional, Furusyo, Norihiro, additional, Naito, Mariko, additional, Wakai, Kenji, additional, Yamaji, Taiki, additional, Sawada, Norie, additional, Iwasaki, Motoki, additional, Tsugane, Shoichiro, additional, Hirata, Makoto, additional, Murakami, Yoshinori, additional, Kubo, Michiaki, additional, and Matsuda, Koichi, additional

Published
2018
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41. Current status of non‐invasive prenatal testing in Japan

Author

Samura, Osamu, primary, Sekizawa, Akihiko, additional, Suzumori, Nobuhiro, additional, Sasaki, Aiko, additional, Wada, Seiji, additional, Hamanoue, Haruka, additional, Hirahara, Fumiki, additional, Sawai, Hideaki, additional, Nakamura, Hiroaki, additional, Yamada, Takahiro, additional, Miura, Kiyonori, additional, Masuzaki, Hideaki, additional, Nakayama, Setsuko, additional, Okai, Takashi, additional, Kamei, Yoshimasa, additional, Namba, Akira, additional, Murotsuki, Jun, additional, Tanemoto, Tomohiro, additional, Fukushima, Akimune, additional, Haino, Kazufumi, additional, Tairaku, Shinya, additional, Matsubara, Keiichi, additional, Maeda, Kazuhisa, additional, Kaji, Takashi, additional, Ogawa, Masanobu, additional, Osada, Hisao, additional, Nishizawa, Haruki, additional, Okamoto, Yoko, additional, Kanagawa, Takeshi, additional, Kakigano, Aiko, additional, Kitagawa, Michihiro, additional, Ogawa, Masaki, additional, Izumi, Shunichiro, additional, Katagiri, Yukiko, additional, Takeshita, Naoki, additional, Kasai, Yasuyo, additional, Naruse, Katsuhiko, additional, Neki, Reiko, additional, Masuyama, Hisashi, additional, Hyodo, Maki, additional, Kawano, Yukie, additional, Ohba, Takashi, additional, Ichizuka, Kiyotake, additional, Kido, Yasuhiro, additional, Fukao, Toshiyuki, additional, Miharu, Norio, additional, Nagamatsu, Takeshi, additional, Watanabe, Atsushi, additional, Hamajima, Naoki, additional, Hirose, Masaya, additional, Sanui, Ayako, additional, Shirato, Nahoko, additional, Yotsumoto, Junko, additional, Nishiyama, Miyuki, additional, Hirose, Tatsuko, additional, and Sago, Haruhiko, additional

Published
2017
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50. A survey on awareness of genetic counseling for non-invasive prenatal testing: the first year experience in Japan

Author

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, Nishizawa, Haruki, Okamoto, Yoko, Nakamura, Hiroaki, Kanegawa, Takeshi, Yoshimatsu, Jun, Tairaku, Shinya, Naruse, Katsuhiko, Masuyama, Hisashi, Hyodo, Maki, Kaji, Takashi, Maeda, Kazuhisa, Matsubara, Keiichi, Ogawa, Masanobu, Yoshizato, Toshiyuki, Ohba, Takashi, Kawano, Yukie, and Sago, Haruhiko

Abstract

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.

Published
2016
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