アブストラクト
Japanese
| Title | 日本における出生前遺伝学的検査の動向1998-2016 |
|---|---|
| Subtitle | 原著 |
| Authors | 佐々木愛子1), 左合治彦1), 吉橋博史2), 山田重人3), 三宅秀彦4), 鈴森伸宏5), 高田史男6), 増崎英明7), 平原史樹8), 久具宏司9), 小西郁生10) |
| Authors (kana) | |
| Organization | 1)国立成育医療研究センター周産期・母性診療センター, 2)東京都立小児総合医療センター臨床遺伝科, 3)京都大学医学部附属病院遺伝子診療部, 4)お茶の水女子大学大学院人間文化創成科学研究科ライフサイエンス専攻遺伝カウンセリングコース, 5)名古屋市立大学産科婦人科, 6)北里大学大学院医療系研究科臨床遺伝医学講座, 7)長崎大学病院, 8)国立病院機構横浜医療センター, 9)東京都立墨東病院産婦人科, 10)国立病院機構京都医療センター |
| Journal | 日本周産期・新生児医学会雑誌 |
| Volume | 54 |
| Number | 1 |
| Page | 101-107 |
| Year/Month | 2018 / 5 |
| Article | 原著 |
| Publisher | 日本周産期・新生児医学会 |
| Abstract | 「概要」2006年から2016年における国内検体の出生前遺伝学的検査解析数の調査を, 母体血清マーカー検査, 羊水検査, 絨毛検査のいずれかの検査解析を自施設で行っている主要解析施設を対象に行った. 2008年に実施した全国実態調査 (臨床検査会社, 大学, 病院など対象) での当該主要施設におけるシェア率より2009年以降は全国検査解析数の推定を行った. 2016年における各検査数の推定値は, 母体血清マーカー検査 : 35,900件, 羊水検査 : 18,600件, 絨毛検査 : 1,950件であった. これらを既報告のデータと合わせ, 1998年から2016年 (19年間) の日本における出生前検査の動向をまとめた. |
| Practice | 臨床医学：外科系 |
| Keywords | 出生前遺伝学的検査, 母体血清マーカー検査, 羊水検査, 絨毛検査, 核型分析 |
English
| Title | Current status of prenatal diagnosis in Japan 1998-2016 |
|---|---|
| Subtitle | |
| Authors | Aiko Sasaki1), Haruhiko Sago1), Hiroshi Yoshihashi2), Shigehito Yamada3), Hidehiko Miyake4), Nobuhiro Suzumori5), Fumio Takada6), Hideaki Masuzaki7), Fumiki Hirahara8), Koji Kugu9), Ikuo Konishi10) |
| Authors (kana) | |
| Organization | 1)Center of Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development, 2)Division of Medical Genetics, Tokyo Metropolitan Children's Medical Center, 3)Kyoto University Hospital, Clinical Genetics Unit, 4)Department of Genetic Counseling, Graduate School of Humanities and Sciences, Ochanomizu University, 5)Division of Clinical and Molecular Genetics, Department of Obstetrics and Gynecology, Nagoya City University, 6)Kitasato University Hospital, 7)Director, Nagasaki University Hospital, Professor, Obstetrics and Gynecology, Graduate School of Medicine, Nagasaki University, 8)Director, National Hospital Organization Yokohama Medical Center, 9)Tokyo Metropolitan Bokutoh Hospital, 10)Director, National Hospital Organization Kyoto Medical Center |
| Journal | Journal of Japan Society of Perinatal and Neonatal Medicine |
| Volume | 54 |
| Number | 1 |
| Page | 101-107 |
| Year/Month | 2018 / 5 |
| Article | Original article |
| Publisher | Japan Society of Perinatal and Neonatal Medicine |
| Abstract | [Objective] : In Japan, prenatal genetic tests are not covered by the public health care plan and it is difficult to get the number of these tests. With the recent availability of non-invasive prenatal testing (NIPT) and conventional first trimester screening testing, the landscape of prenatal testing in Japan has been changed. To understand the present status of genetic prenatal testing in Japan, we surveyed the number of these tests from 1998 to 2016. [Method] : We estimated the total number of genetic prenatal tests ; maternal serum markers (including first trimester combined test) , amniocentesis (AC) , and chorionic villus sampling (CVS) from 2009 to 2016 using the annual share of tests of main laboratories in 2008 from the previous nationwide survey. We combined the data from this new 8-year survey with those of the previous survey reported in 2011. [Result] : The share of main five laboratories in 2008 of each testing was about 80-95%. The numbers of each prenatal tests of maternal serum markers (including first trimester combined test) were 20,600 in 2010, 24,100 in 2012, 29,800 in 2014, 35,900 in 2016. The numbers of AC and CVS were 15,200 and 1,010 in 2010, 20,000 and 1,710 in 2012, 20,700 and 2,100 in 2014, and 18,600 and 1,950 in 2016, respectively. [Conclusions] : The number of maternal serum markers (including first trimester combined test) increased from 15,927 to 35,900 over last sixteen years. While, the numbers of AC increased until 2014, then decreased in 2015 and 2016. The number of CVS also decreased in 2016, Although the prevalence of genetic prenatal testing is still less than 10% of one million births, the number of invasive prenatal test was reduced in Japan due to the introduction of new non-invasive prenatal testing in 2013. |
| Practice | Clinical surgery |
| Keywords |
- 全文ダウンロード： 従量制、基本料金制の方共に770円(税込) です。
参考文献
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残りの13件を表示する
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- 18) 我が国における出生前遺伝学的検査の全体把握に向けての提言, 平成26〜28年度厚生労働科学研究(成育疾患克服等次世代育成基盤研究事業)「出生前診断における遺伝カウンセリングの実施体制及び支援のあり方に関する研究」研究班(代表者 : 小西郁生)
