[P1-01] Poster Session 1-01　Genetic Counseling 1 | The 69th Annual Meeting of the Japan Society of Human Genetics

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Poster Session

[P1-01]Poster Session 1-01　Genetic Counseling 1

Thu. Oct 10, 2024 4:50 PM - 5:50 PM JST
Thu. Oct 10, 2024 7:50 AM - 8:50 AM UTC

Poster Room

[P1-01-1]NIPT status of our hospital before and after establishment of a steering committee for prenatal testing certification

^○Ayumi Okuyama^1,2, Makiko Tominaga^1,3, Kiyotake Ichizuka^1,2, Ayano Sakurai¹, Mikiko Izumi^1,4, Akiko Sakashita^1,5 (1.Center for Clinical Genetics and Genome Medicine,Showa University Northern Yokohama Hospital, Kanagawa, Japan, 2.Showa University Northern Yokohama Hospital, Obstetrics and Gynecology, 3.Showa University Northern Yokohama Hospital, Children's Medical Center, 4.Showa University Hospital, Center for Clinical Genetics, 5.Showa University Northern Yokohama Hospital, Internal Medicine)

[P1-01-2]A Case of Genetic Counseling for a potential 22q11.2 Deletion Syndrome indicated by NIPT at an unauthorized facility

^○Haruka Bamba¹, Mie Tahara², Eri Sakai¹, Chie Ono¹, Yukiko Jogu¹, Kohei Kitada², Makiko Fuyuki³, Kosuke Ito¹, Tomoyo Yamashita^1,3, Junko Hotta^1,3, Toshiyuki Seto^1,3, Daisuke Tachibana², Sumi Toshiyuki⁴ (1.Department of Medical Genetics, Osaka Metropolitan University Graduate School of Medicine, 2.Department of Women's Life Care Medicine, Osaka Metropolitan University Graduate School of Medicine, 3.Department of Pediatrics, Osaka Metropolitan University Graduate School of Medicine, 4.Department of Gynecological Oncology, Osaka Metropolitan University Graduate School of Medicine)

[P1-01-3]Experience of genetic counseling for clients with consecutive pregnancies of fetus with standard trisomy 21

^○Sawada Yuki¹, Hiroaki Hanafusa^1,2, Keiko Tanaka¹, Hitomi Imahuku³, Yoshitaka Asagai^1,2, Ryosuke Bo^1,2, Tomonari Kunihisa^1,4, Akiharu Kubo^1,5, Kandai Nozu^1,2 (1.Department of Medical Genetics, Kobe University Hospital, Kobe, Japan, 2.Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan, 3.Department of Obstetrics and Gynecology, Kobe University Hospital, Kobe, Japan, 4.Department of Breast and Endocrine Surgery, Kobe University Hospital, Kobe, Japan, 5.Department of Dermatology, Kobe University Graduate School of Medicine, Kobe, Japan)

[P1-01-4]The decision making of couples which did not undergo any prenatal test after genetic counseling at our hospital

^○Ayano Sakurai¹, Makiko Tominaga^1,2, Ayumi Okuyama^1,3, Mikiko Izumi^1,4, Kiyotake Ichizuka^1,3, Akiko Sakashita^1,5 (1.Center for Clinical Genetics and Genomic Medicine, Showa University Northern Yokohama Hospital, Kanagawa, Japan, 2.Children Medical Center, Showa University Northern Yokohama Hospital, Kanagawa, Japan, 3.Department of Obstetrics and Gynecology, Showa University Northern Yokohama Hospital, 4.Center for Clinical Genetics, Showa University Hospital, Tokyo, Japan, 5.Internal Medicine, Showa University Northern Yokohama Hospital)

[P1-01-5]The feelings of the family of a child diagnosed with SMA following extended NBS and the limitations of genetic analysis

^○Maho Ogiwara¹, Yuika Ono¹, Minami Ozawa^1,2, Ayako Matsunaga^1,2, Sachiko Ohori^1,3, Yusaku Miyamoto², Naoki Shimizu², Ohsuke Migita^1,3 (1.Department of Clinical genetics, St. Marianna University Hospital, 2.Department of Pediatrics, St. Marianna University School of Medicine, 3.Department of Laboratory Medicine, St. Marianna University School of Medicine)

[P1-01-6]Genetic counseling in a new therapeutic era for spinal muscular atrophy: a case report

^○Kento Mukai¹, Uiko Hanaoka^1,3, Chiaki Tenkumo^1,3, Tamaki Tanaka¹, Megumi Ito¹, Yukihiko Konishi², Kousuke Koyano^2,3, Yuka Yonehara⁴, Kenji Kanenishi¹, Kensuke Kumamoto³, Takashi Kusaka² (1.Department of Perinatology and Gynecology, Faculty of Medicine, Kagawa University, Kagawa, Japan, 2.Department of Pediatrics, Faculty of Medicine, Kagawa University, Kagawa, Japan, 3.Department of Clinical Genetics and Genomic Medicine, Kagawa University Hospital, Kagawa, Japan, 4.Center for Medical Genetics, Shinshu University Hospital, Nagano, Japan)

[P1-01-7]A case of genetic counseling for a suspicious case of Fabry disease by newborn screening

^○Mari Tashiro¹, Mariko Araki², Toru Kubo^1,3 (1.Department of Clinical Genetics, Kochi Medical School Hospital, Kochi, Japan, 2.Department of Pediatrics, Kochi Medical School, Kochi, Japan, 3.Department of Cardiologyand Geriatrics, Kochi Medical School, Kochi, Japan)

[P1-01-8]Genetic counseling in comprehensive genetic analysis during the neonatal period

^○Tomoko Nishikawa¹, Yukiko Kuroda¹, Yoko Saito¹, Koki Nagai¹, Yasuhiro Kawai¹, Takuya Naruto², Ruriko Tachioka¹, Kenji Kurosawa¹ (1.Department of Medical Genetics, Kanagawa Children's Medical Center,Yokohama, Japan, 2.Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama,Japan)

[P1-01-9]A case in which exome analysis led to the diagnosis of Alström syndrome

^○Hiroko Kuriki¹, Yuta Inoue⁶, Haruka Hamanoue^1,2, Mii Takatsuka¹, Shuichi Ito^1,3, Tomohiro Sakaguchi¹, Natsuki Fukuda⁴, Satoko Miyatake^1,6, Naomi Tsuchida^5,6, Yuri Uchiyama^5,6, Etsuko Miyagi², Naomichi Matsumoto^1,5,6 (1.Department of Clinical Genetics ,Yokohama City University Hospital ,Kanagawa,Japan, 2.Department of Obstetrics & Gynecology, Yokohama City University Hospital , Kanagawa,Japan, 3.Department of Pediatrics Yokohama City University Hospital , Kanagawa,Japan, 4.Department of Nephrology/Hypertension, Yokohama City University Hospital , Kanagawa,Japan, 5.Department of Rare Disease Genomics, Yokohama City University Hospital , Kanagawa,Japan, 6.Department of Human Genetics, Yokohama City University Graduate School l of Medicine, Kanagawa,Japan)

[P1-01-10]A case of genetic counseling involving a missense variant in ACAT1 detected by direct-to-consumer genetic testing

^○Mio Mukainakano¹, Masaaki Matsushima^1,2,3, Yuka Shibata¹, Ichiro Yabe^1,2, Takahiro Yamada¹ (1.Division of Clinical Genetics, Hokkaido University Hospital, Sapporo, Japan, 2.Department of Neurology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan, 3.Health Care Center, Hokkaido University, Sapporo, Japan)

[P1-01-11]A case of genetic counselling for the family of a sudden unexpected infant death (SUID)

^○Kayo Inoue, Nobuhiko Okamoto (Department of Medical Genetics, Osaka Women's and Children's Hospital)

[P1-01-12]A case of Alport syndrome with variants identified in two genes, COL4A3 and COL4A4

^○Sawako Tajima¹, Kazuyo Kiribayashi¹, Jingyi Dong¹, Takashi Oda², Natsuko Inagaki¹ (1.Clinical Genetics Center, Tokyo Medical University Hospital, Tokyo, Japan, 2.Tokyo Medical University Hospital Hachioji Medical Center)

[P1-01-13]A case of X-autosomal balanced translocation

^○Yuko Matsubara^1,2, Matome Imai¹, Akiko Yano¹, Shoko Murakami¹, Yuka Uchikura¹, Keiichi Matsubara¹, Takashi Sugiyama¹, Erina Ozaki², Mariko Eguchi² (1.Department of Obstetrics and Gynecology, Ehime University Graduate School of Medicine, Toon, Japan, 2.Department of Clinical Genetics, Ehime University Graduate School of Medicine)

[P1-01-14]A case of Kallmann syndrome diagnosed by a novel FGFR1 gene mutation and had a live birth after long-term management

^○Itsuki Kajimura¹, Shoko Miura¹, Sayaka Kawashita¹, Riko Matsuda³, Yuriko Kitajima¹, Yuri Hasegawa¹, Hiroyuki Mishima², Akira Kinoshita², Koh-ichiro Yoshiura², Kiyonori Miura¹ (1.Department of Obstetrics and Gynecology, Nagasaki University Hospital, Nagasaki, Japan, 2.Department of human genetics, Atomic Bomb Disease Institute, Nagasaki University Graduate School of Biomedical Sciences, 3.Clinical Genomics Center, Nagasaki University Hospital)

[P1-01-15]Genetic counseling for a patient with mixed gonadal dysgenesis following amniotic fluid testing

^○Satano Hanae¹, Ayana Tsuboi^1,2, Tetsuaki Hara^1,3, Miho Kodama⁴, Norio Miharu⁵, Kenjiro Date⁴, Minako Hikita⁶, Seiko Maeno⁷, Kanako Iwami^1,8, Mihoko Doi¹ (1.Department of Genomic Medicine, Hiroshima Prefectural Hospital, Hiroshima, Japan, 2.Department of Pediatrics, Hiroshima Prefectural Hospital, Hiroshima, Japan, 3.Division of Reproductive Medicine, Hiroshima Prefectural Hospital, Hiroshima, Japan, 4.Department of Obstetrics & Gynecology, Hiroshima Red Cross Hospital & Atomic-bomb Survivors Hospital, Hiroshima, Japan, 5.Department of Clinical Genetics, Hiroshima Red Cross Hospital & Atomic-bomb Survivors Hospital, Hiroshima, Japan, 6.Department of Nursing, Hiroshima Red Cross Hospital & Atomic-bomb Survivors Hospital, Hiroshima, Japan, 7.Department of Neonatology, Hiroshima Prefectural Hospital, Hiroshima, Japan, 8.Department of Nursing, Hiroshima Prefectural Hospital, Hiroshima, Japan)

[P1-01-16]A case of mitochondrial disease leading to health care for three generations

^○Hiroaki Takaso¹, Itsuki Oda², Atsuko Ikegawa^1,2, Mirei Tsuchiyama², Ayami Nakamura²,Yoshihito Kishita¹, Kazumasa Saigoh^1,2 (1.Department of Life Science, Graduate School of Science and Engineering, Kindai University, 2.Department of Clinical Genetics, Kindai University Hospital)

[P1-01-17]A case of genetic counseling for the parents whose daughter is an obligate carrier of hemophilia A

^○Yuki Nakata¹, Hiroaki Hanafusa^1,2, Keiko Tanaka², Yuki Sawada², Ryosuke Bo^1,2, Kandai Nozu^1,2 (1.Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan, 2.Department of Medical Genetics, Kobe University Hospital, Kobe, Japan)

[P1-01-18]Genetic counseling for two families with cryopyrin-associated periodic fever syndrome

^○Yumiko Kobayashi¹, Kayono Yamamoto¹, Nobuhiro Suzumori¹, Shin-ichi Usami², Shin-ya Nishio² (1.Department of Clinical Genetics, Iwate Medical University, Iwate, Japan, 2.Department of Hearing Implant Sciences, Shinshu University School of Medicine)

[P1-01-19]Genetic analysis of family members to evaluate VUS in FLCN detected in a proband diagnosed with Birt-Hogg-Dube syndrome

^○Tomomi Oka¹, Takeshi Nakajima^1,2, Sayaka Honda¹, Kiminobu Tanizawa^3,4, Masahiro Gotoh⁵, Makoto Hirata⁶, Akiko Yoshida^1,7, Masako Torishima^1,7, Hiromi Murakami^1,2, Akira Inaba¹, Akari Minamoto¹, Sayoko Haruyama¹, Kawasaki Hidenori^1,7, Masanobu Ogawa^1,8, Takahito Wada^1,7, Shinji Kosugi^1,2,7 (1.Clinical Genetics Unit, Kyoto University Hospital, 2.School of Public Health, Medical Ethics and Medical Genetics, Graduate School of Medicine, Kyoto University, 3.Division of Respiratory Medicine, Center for Respiratory Diseases, National Hospital Organization Kyoto Medical Center, 4.Department of Respiratory Medicine, Graduate School of Medicine, Kyoto University, 5.Department of Clinical Genomics, National Cancer Center Research Institute, 6.Department of Genetic Medicine and Services, National Cancer Center Hospital, 7.Department of Genomic Medicine, Graduate School of Medicine, Kyoto University, 8.Ethics Support Unit, Kyoto University Hospital)

[P1-01-20]Genetic counseling for brothers and the family diagnosed with X-linked lymphoproliferative syndrome

^○Maki Taniguchi¹, Kana Hiromoto¹, Shuro Nishio², Toshiaki Ishida², Daiichiro Hasegawa^1,2, Kandai Nozu³, Naoya Morisada^1,3,4 (1.Department of Genome Medical Center, Hyogo Prefectural Kobe Children's Hospital, 2.Department of Hematology and Oncology, Hyogo Prefectural Kobe Children's Hospital, 3.Department of Pediatrics, Kobe University Graduate School of Medicine, 4.Department of Clinical Genetics, Hyogo Prefectural Kobe Children's Hospital)

[P1-01-21]Significance of long-term involvement with family members –Through the experience of family with adrenoleukodystrophy–

^○Mari Urano, Tamaki Kato, Mamoru Yokomura, Kayoko Saito (Institute of Medical Genomics, Tokyo Women's Medical University,Tokyo,Japan)

[P1-01-22]Genetic counseling for two cases with HBOC who underwent risk-reducing salpingo-oophorectomy in their 30s

^○Emiko Kise^1,2, Tomomi Kojima¹, Akiko Sakyu¹, Yuka Yonehara¹, Tsutomu Miyamoto³, Hisanori Kobara³, Tomoki Kosho^1,4,5,6,7 (1.Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan, 2.Department of Nursing, Shinshu University Hospital, Matsumoto, Japan, 3.Department of Obstetrics and Gynecology, Shinshu University Hospital, Matsumoto, Japan, 4.Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan, 5.Division of Clinical Sequencing, Shinshu University School of Medicine, Matsumoto, Japan, 6.BioBank Shinshu, Shinshu University Hospital, Matsumoto, Japan, 7.Research Center for Advanced Science and Technology, Shinshu University, Matsumoto, Japan)

[P1-01-23]Genetic Testing for Hereditary Breast and Ovarian Cancer (HBOC) in Our Routine Clinical Practice

^○Tomoyoshi Aoyagi, Kanae Iwata, Hidekazu Takahashi, Haruhito Sakata, Maki Namura, Tamaki Tamanuki, Mika Iwai, Hiroshi Matuszaki (Funabashi Municipal Medical Center)

[P1-01-24]The indications and implementation of BRCA testing in consecutive patients who underwent breast cancer surgery

^○Chika Sato^1,2, Tomoharu Sugie³, Hirotsugu Yanai^1,4, Chiaki Matsui⁴, Manami Tada⁴, Chie Hirai⁴, Yuichiro Kikawa⁴, Saki Shimada^1,2, Hiroyasu Tsukaguchi¹, Hidetaka Okada², Masahiro Takada⁴ (1.Clinical Genetics Center, Kansai Medical University Hospital, Hirakata, Japan, 2.Department of Obstetrics and Gynecology, Kansai Medical University, Hirakata, Japan, 3.Department of Breast Surgery, Kansai Medical University Kori Hospital, Hirakata, Japan, 4.Department of Breast Surgery, Kansai Medical University, Hirakata, Japan)

[P1-01-25]Ideal timing of genetic counseling intervention for relatives in HBOC cases

^○Toru Higuchi, Yu-ka Abe (Breast Unit, Japanese Red Cross Saitama Hopital)

[P1-01-26]Genetic Counseling for Hereditary Hearing Loss - Report of the 21st Annual Meeting of the NLCCSMG, Workshop 6-

^○Yuko Kataoka¹, Yasuhiro Arai², Fumino Kato³, Hiroko Fujita^3,4, Mii Takatsuka⁵, Akira Hirasawa³ (1.Hearing Health Center, Okayama University, Okayama, Japan, 2.Department of Otorhinolaryngology, Yokohama City University, 3.Department of Clinical Genetics, Okayama University Hospital, 4.Genetics Department, Himeji Red Cross Hospital, 5.Genetic Medical Department, Yokohama City University)

[P1-01-27]Genetic counseling for a patient with Keratitis-Ichthyosis-Deafness Syndrome

^○Kazumi Kawato¹, Nobuhiko Okamoto¹, Kumiko Yanagi², Tadasi Kaname² (1.Department of Medical Genetics National Center for Child Health and Development, 2.Department of Genomic Medicine, National Center for Child Health and Human Development)

[P1-01-28]The process of preclinical diagnosis and genetic counseling for relatives of patientswith COL3A1-related arteriopathy

^○Nana Akiyama^1,4, Hiroki Yagi^2,4, Hyangri Chang^1,4, Ryo Inuduka^1,3, Norifumi Takeda^2,4 (1.Department of Genomic Medicine, The University of Tokyo Hospital, Tokyo, Japan, 2.Department of Cardiovascular Medicine, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan, 3.Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan, 4.Marfan Syndrome Center, The University of Tokyo Hospital, Tokyo, Japan)

[P1-01-29]Review of cases disclosing secondary findings in comprehensive genomic profiling tests

^○Shoko Miura¹, Megumi Matsumoto^2,3, Riko Matsuda², Yumi Takahashi², Yuri Hasegawa¹, Yuriko Kitajima¹, Ai Nagata¹, Itsuki Kajimura¹, Sayaka Kawashita¹, Nahoko Komatsu¹, Kazuto Ashizawa⁴, Bungo Furusato⁴, Souda Masakazu⁴, Emiko Udo⁴, Koh-ichiro Yoshiura⁵, Kiyonori Miura^1,2 (1.Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, 2.Genetic counseling unit, Clinical Genomics Center, Nagasaki University Hospital, 3.Department of Breast Surgery, Japanese Red Cross Nagasaki Genbaku Hospital, 4.Cancer Genomics unit, Clinical Genomics Center, Nagasaki University Hospital, 5.Department of Human genetics, Atomic Bomb Disease Institute, Nagasaki University)

[P1-01-30]Significance of Proposing Multigene Panel Testing for Patients with Suspected Lynch Syndrome

^○Sadia Matsutani¹, Hiromi Sugawara¹, Megumi Mukai¹, Risa Goto¹, Saki Hinoshita^1,2, Miyuki Kawamura^1,3, Hideki Sakai^1,3, Mitsunori Morita^1,3, Takuma Onoe^1,3, Takashi Shibutani^1,4, Kyoko Hamasaki^1,4, Koichi Hirokaga^1,5, Tamura Kazuo¹, Koji Matsumoto^1,3 (1.Division of Clinical Genetics, Hyogo Cancer Center, Hyogo, Japan, 2.Division of Nursing, Hyogo Cancer Center, Hyogo, Japan, 3.Department of Medical Oncology, Hyogo Cancer Center, Hyogo, Japan, 4.Department of Gynecologic Oncology, Hyogo Cancer Center, Hyogo, Japan, 5.Department of Breast Surgery, Hyogo Cancer Center, Hyogo, Japan)

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