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.
Spis treści
Preface.- 1. Introduction.- 2. A brief history of non-invasive prenatal diagnosis and its forecast.- Part 1. Clinical Genetics .- 3. The Nexus Between Chromosomal Abnormalities and Single Gene Disorders .- 4. Clinical implications of chromosomal polymorphisms in congenital disorders .- 5. Placental genetics. Fetus-placental discrepances: Challenges in prenatal genetic diagnosis.- 6. Underpinnings of the Conundrum Between Genetic Screening and Testing.- 7. Epidemiology of birth defects in twins.- 8. Screening of aneuploidies in twin pregnancies.- Part 2. Non Invasive Diagnosis.- 9. Congenital Anomalies: the Role of Ultrasound .- 10. Customary complications and screening techniques of early pregnancy .- 11. First trimester screening for common and rare chromosomal abnormalities as well as for major defects – which tests should be combined?.- 12. The Technology of Cell Free Fetal DNA-based NIPT.- 13. The technologies: comparisons on efficiency, reliability and costs.- 14.Pre and Post Test Counseling.- 15. Cf DNA testing in IVF pregnancies.- 16. “RATs” – Rare autosomal trisomies and their relevance in cf DNA testing.- 17. Rapid Detection of Fetal Mendelian Disorders: Thalassemia and Sickle Cell Syndrome.- 18. Noninvasive Antenatal Screening for Fetal RHD in Rh D Negative Women to Guide Targeted Anti-D Prophylaxis.- 19. Genome Wide Cell Free Fetal DNA-based Prenatal Testing: Limits and Perspectives.- Part 3. Clinical setting and trends.- 20. Developing and delivering a clinical service for the non-invasive prenatal diagnosis of monogenic conditions.- 21. Counseling in a changing world of genetics.- 22. Maternal Secondary Genomic Findings Detected By Fetal Genetic Testing.- 23. Prenatal genome-wide sequencing for the investigation of fetal structural anomalies – is there a role for non-invasive prenatal diagnosis?.- 24. Cross-cultural Perspectives on Noninvasive Prenatal Testing.- 25. International Guidelines for implementation of NIPT.- 26. Overview of Preimplantation Genetic Diagnosis (PGD): Historical Perspective and Future Directions.
O autorze
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.
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