Prenatal Diagnostic Testing for Genetic Disorders | Libreria Medica Studium

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Prenatal Diagnostic Testing for Genetic Disorders

The revolution of the Non-Invasive Prenatal Test

Editore

Springer

Anno

2023

Pagine

451

ISBN

9783031317576

I prezzi indicati possono subire variazioni poiché soggetti all'oscillazione dei cambi delle valute e/o agli aggiornamenti effettuati dagli Editori.

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 genetic diagnosis.

Front Matter

Pages i-xvii

PDF
Introduction
- Y. M. Dennis Lo
Pages 1-2
A Brief History of Noninvasive Prenatal Diagnosis and Its Forecast
- Gian Carlo Di Renzo, Arun Meyyazhagan, Valentina Tsibizova
Pages 3-21
Clinical Genetics
1. Front Matter
  
  Pages 23-23
  
  PDF
2. The Nexus Between Chromosomal Abnormalities and Single Gene Disorders
  - Arun Meyyazhagan, Gian Carlo Di Renzo
  Pages 25-56
3. Clinical Implications of Chromosomal Polymorphisms in Congenital Disorders
  - Arun Meyyazhagan, Haripriya Kuchi Bhotla, Manikantan Pappuswamy, Valentina Tsibizova, Karthick Kumar Alagamuthu, Gian Carlo Di Renzo
  Pages 57-66
4. 1. Placental Genetics. Fetus-Placental Discrepancies: Challenges in Prenatal Genetic Diagnosis
    - Miriam Turiel-Miranda, Jose Luis Bartha
    Pages 67-77
  2. Underpinnings of the Conundrum Between Genetic Screening and Testing
    - David W. Britt, Shara M. Evans, Mark I. Evans
    Pages 79-98
  3. Epidemiology of Birth Defects in Twins
    - Petya Chaveeva, Maria Mar Gil, Kypros Herodotos Nicolaides
    Pages 99-114
  4. Screening of Aneuploidies in Twin Pregnancies
    - María Mar Gil, Petya Chaveeva, Kypros Herodotos Nicolaides
    Pages 115-125
5. Noninvasive Diagnosis
  1. Front Matter
    
    Pages 127-127
6. Congenital Anomalies: The Role of Ultrasound
  - Valentina Tsibizova, Tatyana Pervunina, Veronika Artemenko, Arun Meyyazhagan, Graziano Clerici
  Pages 129-142
7. Customary Complications and Screening Techniques of Early Pregnancy
  - Arun Meyyazhagan, Haripriya Kuchi Bhotla, Manikantan Pappuswamy, Gian Carlo Di Renzo
  Pages 143-152
8. First Trimester Screening for Common and Rare Chromosomal Abnormalities as Well as for Major Defects: Which Tests Should Be Combined?
  - Karl Oliver Kagan
  Pages 153-164
9. The Technology of Cell-Free Fetal DNA-Based NIPT
  - Karen White, Bowdoin Su, Renee Jones, Emilia Kostenko, Francesca Romana Grati
  Pages 165-181
10. The Technologies: Comparisons on Efficiency, Reliability, and Costs
  - Zhijie Yang, Youxiang Wang, Gian Carlo Di Renzo
  Pages 183-216
11. Pre- and Posttest Counseling
  - Dick Oepkes
  Pages 217-236
12. cffDNA Testing in IVF Pregnancies
  - Emilia Mateu-Brull, Nuria Balaguer, María Gómez-López, Carlos Simón, Miguel Milán
  Pages 237-247
13. “RATs”: Rare Autosomal Trisomies and Their Relevance in cfDNA Testing
  - Francesca Romana Grati, Peter Benn
  Pages 249-264
14. Rapid Detection of Foetal Mendelian Disorders: Thalassaemia and Sickle Cell Syndrome
  - Karen Lim, Mahesh Choolani
  Pages 265-276
15. Noninvasive Antenatal Screening for Fetal RhD in RhD-Negative Women to Guide Targeted Anti-D Prophylaxis
  - C. Ellen van der Schoot, Dick Oepkes
  Pages 277-289
16. Genome-Wide Cell-Free Fetal DNA-Based Prenatal Testing: Limits and Perspectives
  - Elisa Bevilacqua, Jacques Jani
  Pages 291-302
17. Clinical Setting and Trends
18. Front Matter
  
  Pages 303-303
  
  PDF
19. Developing and Delivering a Clinical Service for the Non-invasive Prenatal Diagnosis of Monogenic Conditions
  - Elizabeth Scotchman, Joseph Shaw, Natalie Chandler, Lyn S. Chitty
  Pages 305-319
20. Counseling in a Changing World of Genetics
  - C. M. Katia Bilardo
  Pages 321-332
21. Maternal Secondary Genomic Findings Detected by Fetal Genetic Testing
  - Amy Turriff, Diana W. Bianchi
  Pages 333-355
22. 1. Prenatal Genome-Wide Sequencing for the Investigation of Fetal Structural Anomalies: Is There a Role for Noninvasive Prenatal Diagnosis?
    - Elizabeth Wall, Stephanie Allen, James S. Castleman, Mark D. Kilby
    Pages 357-377
  2. Cross-cultural Perspectives on Noninvasive Prenatal Testing
    - Hazar Haidar, Marie-Christine Roy, Anne-Marie Laberge, Vardit Ravitsky
    Pages 379-388
  3. International Guidelines for Implementation of NIPT/cffDNA Testing
    - Maria José Rego de Sousa, Margarida Albuquerque, Grasielle Cruz
    Pages 389-428
  4. Overview and Historical Perspective of Preimplantation Genetic Testing
    - Joe Leigh Simpson, Svetlana Rechitsky, Anver Kuliev
    Pages 429-451
23. Correction to: International Guidelines for Implementation of NIPT/cffDNA Testing
  - Maria José Rego de Sousa, Margarida Albuquerque, Grasielle Cruz
  Pages C1-C1

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