Prenatal Diagnostic Testing for Genetic Disorders (eBook)

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.

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 human reproduction 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.