Session Details

[P2-05]Poster Session 2-05 Prenatal Genetic 1

Fri. Oct 11, 2024 6:00 PM - 7:00 PM JST
Fri. Oct 11, 2024 9:00 AM - 10:00 AM UTC
Poster Room

[P2-05-1]Hemodynamic characteristics of congenital heart disease in newborns with chromosomal anomalies

Takashi Harada1, Tomoki Nonaka2, Hiroyuki Awano2 (1.Department of Obstetrics and Gynecology, Tottori University Faculty of Medicine, 2.Department of Clinical Genetics, Tottori University Hospital)

[P2-05-2]A pregnant case with uninformative result of molecular genetic testing of ornithine transcarbamylase deficiency

Kensaku Nakai1, Mie Tahara2,3, Mayu Kurokawa1, Satoshi Shibata2, Taiki Kikuchi2, Shotaro Yamamoto2, Tomohiro Yoshida2, Kohei Kitada2,3, Yasushi Kurihara2, Akihiro Hamuro2, Takuya Misugi2, Akemi Nakano2, Sakai Eri3,4, Chie Ono3,4, Yukiko Jogu3,4, Haruka Bamba3,4, Toshiyuki Seto3,4, Daisuke Tachibana2, Toshiyuki Sumi2,3 (1.Department of Obstetrics and Gynecology, Izumiotsu Municipal Hospital, Osaka, Japan, 2.Department of Obstetrics and Gynecology, Osaka Metropolitan University, Osaka, Japan, 3.Department of Clinical Genomics, Osaka Metropolitan University Hospital, Osaka, Japan, 4.Department of Cinical Genomics and Medical Genetics, Osaka Metropolitan University, Osaka, Japan)

[P2-05-3]A novel variant in COL2A1 in hypochondrogenesis

Ami Kobayashi1, Kenji Horie1, Fuyuki Hasegawa2, Asuka Hori3, Hanako Otachi1, Rieko Furukawa4, Takafumi Okusa1, Manabu Ogoyama1, Hirotada Suzuki1, Kenichiro Hata3, Hironori Takahashi1, Hiroyuki Fujiwara1 (1.Department of Obstetrics and Gynecology, Jichi Medical University, 2.Center for Clinical Genetics, National Center for Child Health and Development, 3.Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, 4.Department of Radiology, Jichi Medical University)

[P2-05-4]A case of autosomal dominant polycystic kidney disease (ADPKD) diagnosed on perinatal outcome

Keita Yatsuki1, Koichiro Kido1, Chikara Kihira1, Hideo Kamata1, Haruka Nishida1, Haruko Hiraike1, Yuko Takahashi1, Miho Aoki2, Noriko Nakabayashi2, Kiyotaka Watanabe2, Yukifumi Sasamori1, Kazunori Nagasaka1 (1.Department of Obstetrics & Gynecology, Teikyo University, School of Medicine, Tokyo, JAPAN, 2.Teikyo University Hospital Cancer genome medicine support office)

[P2-05-5]A case of Emanuel syndrome diagnosed prenatally following NIPT at a non-certified facility

Atsushi Tajima1,2, Mari Kikuchi2, Miho Matsushima1,2, Tomohiko Taki2,3, Hiroaki Ohnishi2,4, Yaeko Ichikawa2,5, Shinji Tanigaki1,2, Yoichi Kobayashi1 (1.Department of Obstetrics and Gynecology, Kyorin University Faculty of Medicine, Tokyo, Japan, 2.Center for Genetic Medicine, Kyorin University Hospital, Tokyo, Japan, 3.Department of Medical Technology, Kyorin University Faculty of Health Sciences, Tokyo, Japan, 4.Department of Laboratory Medicine, Kyorin University Faculty of Medicine, Tokyo, Japan, 5.Department of Neurology, Kyorin University Faculty of Medicine, Tokyo, Japan)

[P2-05-6]A case of false negative result of PGT-A for Trisomy 18

Takashi Hashimoto1, Toshiro Ikeda2, Kento Hosaki1, Chie Ishihara3, Takatsugu Maeda1, Masato Kamitomo1 (1.Departent of obstetrics and gynecology, Kagoshima city hospital, Kagoshima, Japan, 2.Genetic counseling room, Kagoshima university hospital, 3.Department of neonatology, Kagoshima city hospital)

[P2-05-7]A case of prenatal genetic counseling influencing the decision making in a carrier couple of spinal muscular atrophy

Junko Matsumoto1, Hyangri Chang3, Yu Kakimoto2, Masatake Toshimitsu1, Seisuke Sayama1, Takahiro Seyama1, Keiichi Kumasawa1, Takayuki Iriyama1, Yasushi Hirota1, Yutaka Osuga1 (1.The University of Tokyo Hospital, Obstetrics and Gynecology, Tokyo, Japan, 2.The University of Tokyo Hospital, Pediatrics, Tokyo, Japan, 3.The University of Tokyo Hospital, Department of Clinical Genomics, Tokyo,Japan)

[P2-05-8]A case of mosaic trisomy 9 diagnosed by amniocentesis after detection of morphological abnormalities in early pregnancy

Hiroko Takita, Ryu Matsuoka, Mayumi Kaneko, Osamu Yasui, Miwa Sakamoto, Mikiko Izumi, Nahoko Shirato, Akihiko Sekizawa (Department of Obstetrics and Gynecology, Showa University School of Medicine)

[P2-05-9]A case in which the result of trisomy 13 on NIPT was not reportable and sSMC was found on amniocentesis

Yuuka Abe1, Risa Inagaki2, Ai Hiromatsu2, Kanami Saitou2, Youko Saitou2, Miki Okubo1, Akihiro Ikenaga1, Kiyo Masaki1, Satoshi Takakura2, Kohei Sugimoto1,2,3 (1.Genetic Counseling Center, Dokkyo Medical University Saitama Medical Center, 2.Obestetrics and gynecology, Dokkyo Medical University Saitama Medical Center, 3.International Center for Reproductive Medicine, Dokkyo Medical University Saitama Medical Center)

[P2-05-10]A case of congenital duodenal stenosis with 21 trisomy in which Vater's papilla was identified by 3D ultrasonography

Mayu Kurokawa1,2, Haruko Fujito1, Yuichiro Awazu1, Ayako Taniwaki1, Kensaku Nakai1,2, Ryo Uemura3, Masami Hayashi1, Aiko Nagashima1, Kayoko Nakagawa1, Kazuharu Tanaka1, Junko Nishio1 (1.Izumiotsu Municipal Hospital, 2.Osaka Metropolitan University Hospital, 3.Osaka City General Hospital)

[P2-05-11]A case of small-cell carcinoma of the ovary, hypercalcemic type (SCCOHT) with multiple somatic mutations of SMARCA4

Yoko Aoyagi1,2, Kentaro Kai1, Saki Aso1, Nobue Tsukatani3, Kenji Ihara3, Eiji Kobayashi1 (1.1Department of Obstetrics and Gynecology, Oita University Faculty of Medicine, Oita, Japan, 2.Department of Gynecology, Oita Nakamura Hospital, Oita, Japan, 3.Division of Genetic Counseling, Oita University Hospital, Oita, Japan)

[P2-05-12]A highly accurate screening ability of SNP-based NIPT: Evidence from a 10-year single center validation study

Shiho Uchida1, Yuki Mizuguchi1,2,3, Suguru Sato1, Kou Sueoka3,4, Mamoru Tanaka1 (1.Department of Obstetrics and Gynecology, Keio University School of Medicine, Tokyo, Japan, 2.Obstetrics and Gynecology, Nasu Red Cross Hospital, Tochigi, Japan, 3.Graduate School of Public Health, Shizuoka Graduate University of Public Health, Shizuoka, Japan, 4.Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan)

[P2-05-13]A study of pregnant women under 35 years of age seeking NIPT at our hospital

Yoshitaka Yano1, Shinobu Goto1, Kyoko Kumagai1, Yuki Sawada1, Chihiro Banno1, Satoko Kito1, Naoki Kato1, Eri Takeda2, Nobuhiro Suzumori3, Mayumi Sugiura1 (1.Department of Obstetrics and Gynecology, Nagoya City University Hospital, Nagoya, Japan, 2.Department of Clinical Genetic Medicine, Nagoya City University Hospital, Nagoya, Japan, 3.Department of Clinical Genetics, School of Medicine, Iwate Medical University, Morioka, Japan)

[P2-05-14]A case of congenital diaphragmatic hernia and holoprosencephaly resulting in prenatal diagnosis of 10q deletion

Masayuki Someya1, Tasuku Mariya2,3, Marie Ogawa2, Tsuyoshi Baba2, Shinichi Ishioka1, Tsuyoshi Saito1,2 (1.Department of Obstetrics and Perinatology, Sapporo Medical University, Sapporo, Japan, 2.Department of Obstetrics and Gynecology, Sapporo Medical University, Sapporo, Japan, 3.Department of Medical Genetics and Genomics, Sapporo Medical University, Sapporo, Japan)

[P2-05-15]Feasibility of Non-invasive prenatal testing (NIPT) for organ transplant patients

Yuki Mizuguchi1,2,3, Kou Sueoka3,4, Shiho Uchida2, Suguru Sato2, Mamoru Tanaka2 (1.Obstetrics and Gynecology, Nasu Red Cross Hospital, Tochigi, Japan, 2.Department of Obstetrics and Gynecology, Keio University School of Medicine, Tokyo, Japan, 3.Graduate School of Public Health, Shizuoka Graduate University of Public Health, Shizuoka, Japan, 4.Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan)

[P2-05-16]Prenatal diagnosis and genetic counseling of 45,X/46,XY mosaicism

Shiho Uchida1, Yuki Mizuguchi1,2,3, Yoshifumi Kasuga1, Suguru Sato1, Tomonobu Hasegawa4, Mamoru Tanaka1 (1.Department of Obstetrics and Gynecology, Keio University School of Medicine, Tokyo, Japan, 2.Obstetrics and Gynecology, Nasu Red Cross Hospital, Tochigi, Japan, 3.Graduate School of Public Health, Shizuoka Graduate University of Public Health, Shizuoka, Japan, 4.Department of Pediatric, Keio University School of Medicine, Tokyo, Japan)

[P2-05-17]Prenatal Genetic Testing Awareness and Preference for NIPT in Affiliated Medical Facilities

Megumi Shibata, Keiko Kawaguchi, Aya Masunaga, Tomoko Tanaka, Shinichi Hoshi, Satoru Okamoto, Atsuko Taki, Shoichi Watanabe (Araki memorial Tokyo riverside hospital)

[P2-05-18]Preoperative and postoperative cell-free fetal DNA analysis in early pregnancy loss: A prospective cohort study

Takeshi Nagao, Yuki Ito, Chika Tei, Akihiro Hasegawa, Tokumasa Suemitsu, Hitoshi Matsui, Ken Takahashi, Taizan Kamide, Osamu Samura, Aikou Okamoto (Department of Obstetrics and Gynecology, The Jikei University School of Medicine, Tokyo, Japan)

[P2-05-19]Open Isthmus and Lambda Sign of Early Joubert Syndrome: Elucidating the Development of the Molar Tooth Sign

Ritsuko Pooh1,2, Masayoshi Takeda2, Kyoko Itoh3, Megumi Machida1, Takako Nakamura1, Hiroyasu Ohashi2, Osamu Shimokawa2, Hideaki Chiyo1, Yoichi Matsubara1 (1.Fetal Brain Center, CRIFM Prenatal Medical Clinic, Osaka, Japan, 2.Department of Clinical Research, Ritz Medical Co.,Ltd. Osaka, Japan, 3.Department of Diagnostic Pathology, Kyoto Chubu Medical Center, Kyoto, Japan)