Prenatal Diagnostic Testing for Genetic Disorders: The Revolution of the Non-Invasive Prenatal Test

Di Renzo, Gian Carlo

  • 出版商: Springer
  • 出版日期: 2024-07-22
  • 售價: $3,970
  • 貴賓價: 9.5$3,772
  • 語言: 英文
  • 頁數: 451
  • 裝訂: Quality Paper - also called trade paper
  • ISBN: 3031317602
  • ISBN-13: 9783031317606
  • 海外代購書籍(需單獨結帳)

商品描述

This comprehensive volume covers all aspects of the revolution in prenatal diagnosis brought about by the introduction of non-invasive prenatal testing (NIPT), which primarily relies on the detection of free fetal DNA circulating in maternal blood from the early stages of pregnancy. The book explores the potential of NIPT to provide full genome screening of the fetus and identify many common or rare disorders. The counseling process, as well as the limitations and pitfalls of various techniques used to perform NIPT, are described, evaluated, and critically discussed by renowned international experts. The book also compares the new technology with more conventional tests, preimplantation diagnosis, and the invasive procedures currently in use.

This book will be a valuable resource for gynecologists, obstetricians, geneticists, maternal-fetal medicine specialists, pathologists, neonatologists, reproductive medicine specialists, midwives, and anyone interested in prenatal geneticdiagnosis.

商品描述(中文翻譯)

這本綜合性著作涵蓋了由非侵入性產前檢測(NIPT)引發的產前診斷革命的各個方面,該技術主要依賴於檢測早期妊娠期間母體血液中循環的自由胎兒DNA。書中探討了NIPT在提供胎兒全基因組篩檢及識別許多常見或罕見疾病方面的潛力。著名國際專家對諮詢過程、各種執行NIPT技術的限制與陷阱進行了描述、評估和批判性討論。該書還將新技術與更傳統的檢測、植入前診斷及目前使用的侵入性程序進行比較。

這本書將成為婦產科醫生、產科醫生、遺傳學家、母胎醫學專家、病理學家、新生兒科醫生、生殖醫學專家、助產士以及任何對產前基因診斷感興趣的人的寶貴資源。

作者簡介

Gian Carlo Di Renzo is Professor of Obstetrics and Gynecology and Maternal Fetal Medicine, Coordinator of the Reproductive and Perinatal Medicine Center at the University of Perugia and Founder and Director of the Permanent International and European School of Perinatal and Reproductive Medicine (PREIS) in Florence ( www.preischool.eu ) . He is also full Professor at the Dept of Obstetrics and Gynecology at the I.M. Sechenov First State University of Moscow since 2019 and in 2022 he was also full Professor at Wayne State University Medical School, and distinguished scholar of the PRB Unit of NIH-NICHD, based in Detroit, USA. Since 2022, he is director of the Women's Medicine Global Library ( GLOWM, www.glowm.com ) the educational platform of FIGO, after being General Secretary of FIGO for two terms (2012-2018) . He was Secretary general and now co-President of the New European Surgical Academy (NESA, www.nesacademy.org ) since 2010. He holds multiple other positions including Founder Editor of the Journal of Maternal Fetal and Neonatal Medicine, corresponding Editor of the American Journal of Obstetrics and Gynecology and Hon Editor in Chief of the Chinese Journal (in English language) "Maternal Fetal-Medicine". He was an Advisory Board Member for the March of Dimes Foundation based in New York ( 2012-2018) . Further, he is honorary member of 43 different scientific Societies among which a Fellow ad eundem of RCOG and a Honorary Fellow of American ACOG and of Indian ICOG. He was also member of the WHO Strategic Committee on "Maternal and Perinatal health". Prof. Di Renzo is an Honorary Professor and Doctor Honoris Causa in Medicine and Surgery at respectively 15 and 6 different Universities throughout Europe, Asia, South America, and the United States. He is an Academic Member of the Romanian and Russian Academy of Sciences. Prof. Di Renzo has received six awards for his work in humanreproduction and maternal-infant's health, scientific research, and teaching. He has organized more than 500 international congresses and courses, some of these are held regularly (Diabetes in Pregnancy: DIP, Birth, World Congress of Maternal Fetal and Neonatal Medicine, TWINS, etc). His scientific production comprises over 1,500 papers of which more than 480 have been published in peer reviewed international journals ( HI 61; i10 index 221) and more than 100 books. He has been an invited speaker in over 1,600 national and international congresses and meetings and in academic courses in over 120 countries.

作者簡介(中文翻譯)

吉安·卡洛·迪·倫佐(Gian Carlo Di Renzo)是佩魯賈大學婦產科及母胎醫學的教授,並擔任生殖與圍產醫學中心的協調員。他也是佛羅倫斯永久國際與歐洲圍產及生殖醫學學校(PREIS)的創始人及主任(www.preischool.eu)。自2019年以來,他在莫斯科I.M.謝切諾夫第一國立大學的婦產科系擔任全職教授,並於2022年成為韋恩州立大學醫學院的全職教授,以及美國底特律國立衛生研究院NICHD的PRB單位的傑出學者。自2022年起,他擔任女性醫學全球圖書館(GLOWM,www.glowm.com)的主任,此前他曾擔任FIGO的總秘書兩屆(2012-2018)。自2010年以來,他是新歐洲外科學院(NESA,www.nesacademy.org)的秘書長及現任共同主席。他還擔任多個其他職位,包括《母胎及新生兒醫學期刊》的創始編輯、《美國婦產科醫學期刊》的通訊編輯,以及《中國期刊》(英文)的榮譽主編。他曾是總部位於紐約的March of Dimes基金會的顧問委員會成員(2012-2018)。此外,他是43個不同科學學會的榮譽會員,其中包括RCOG的ad eundem Fellow,以及美國ACOG和印度ICOG的榮譽Fellow。他還曾是世界衛生組織「母親與圍產健康」戰略委員會的成員。迪·倫佐教授是15所和6所不同大學的榮譽教授及醫學與外科的榮譽博士,這些大學遍及歐洲、亞洲、南美洲和美國。他是羅馬尼亞和俄羅斯科學院的學術成員。迪·倫佐教授因其在人類生殖和母嬰健康、科學研究及教學方面的工作獲得六項獎項。他組織了超過500場國際會議和課程,其中一些會議定期舉行(如妊娠糖尿病:DIP、分娩、母胎及新生兒醫學世界大會、雙胞胎等)。他的科學產出超過1,500篇論文,其中超過480篇已發表在同行評審的國際期刊上(HI 61;i10指數221)以及超過100本書籍。他在超過120個國家的1,600多場國內外會議和學術課程中擔任邀請講者。