2nd Edition
Handbook of Genetic Diagnostic Technologies in Reproductive Medicine Improving Patient Success Rates and Infant Health
Different genetic diagnostic and treatment options are used worldwide to improve routine IVF procedures for the benefit of patients. This handbook updates the new genetic diagnostic technologies that have been translated to the clinic, aiming to improve outcomes in the clinic and result in a healthy baby in the home. Chapters cover the use of genetic technologies in a personalized manner to unravel the possible genetic risks for the couple wishing to conceive, in terms of sperm, the embryo, the endometrium, miscarriage, and finally the fetus.
This expanded new edition covers the range of the latest genetic diagnostic technologies being translated into practice internationally to improve routine IVF procedures for the benefit of patients. Bringing together international experts to discuss their work, this text gives a context for the developments in this very fast-moving area of research and offers a comprehensive and rounded appraisal of hot topics.
Contributors
Preface
1. The Brave New World of Genomics
Sandra García Herrero, Blanca Simon Frances, Cristian Perez-Garcia, and Javier Garcia-Planells
2. Genetics at the Cell Level: The Human Cell Atlas
Valentina Lorenzi and Roser Vento-Tormo
3. The Genetic Risk of a Couple Aiming to Conceive
Joe Leigh Simpson, Svetlana Rechitsky, and Anver Kuliev
4. Carrier Screening for Single-Gene Disorders
Julio Martin, Arantxa Hervas, Ana Bover, Laura Santa, and Ana Cervero
5. Meiotic Abnormalities in Infertile Males
Mireia Solé, Francesca Vidal, Joan Blanco, and Zaida Sarrate
6. Chromosomal Analysis of Sperm
Lorena Rodrigo Vivó, Tantra Martínez Benito, and Azarina Ferro Barbero
7. Epigenetics in Sperm, Epigenetic Diagnostics, and Transgenerational Inheritance
Jennifer L. M. Thorson, Millissia Ben Maamar, and Michael K. Skinner
8. Aneuploidy in Human Oocytes and Preimplantation Embryos
Eva R. Hoffmann
9. Epigenetics from Oocytes to Embryos
Dagnė Daškevičiūtė, Marta Sanchez-Delgado, and David Monk
10. Embryo Kinetics and Aneuploidy
Fernando Meseguer, Noelia Ramírez, and Marcos Meseguer
11. Preimplantation Genetic Testing of Aneuploidies (PGT-A)
Daniela N. Bakalova, Darren K. Griffin, Maria E. Póo, and Alan R. Thornhill
12. Preimplantation Genetic Testing for Structural Rearrangements
Inmaculada Campos-Galindo and Vanessa Peinado
13. Mosaicism in Preimplantation Embryos
Maurizio Poli and Antonio Capalbo
14. Embryo Cell-Free DNA in the Culture Medium and Its Potential for Non-Invasive
Aneuploidy Testing
Carmen Rubio, Luis Navarro-Sánchez, and Carmen M. García-Pascual
15. Mitochondria and Embryo Viability
Irene Corachan Garcia, Laura Iñiguez Quiles, and Antonio Diez-Juan
16. Preimplantation Genetic Diagnosis for Single Gene Disorders
Ana Cervero, Jose Antonio Martínez-Conejero, Lucía Sanz-Salvador, Claudia Gil‑Sanchis, Maribel Sánchez-Piris, and Laura Iñiguez Quiles
17. Preimplantation Genetic Testing for Polygenic Disorders
Nathan R. Treff, Diego Marin, and Laurent C. A. M. Tellier
18. Should Genome Editing Replace Embryo Selection Following PGT?
Nada Kubikova and Dagan Wells
19. Molecular Diagnosis of Endometrial Receptivity
Maria Ruiz-Alonso, Diana Valbuena, and Carlos Simón
20. The Vaginal Microbiome
Shahriar Mowla, Phillip R. Bennett, and David A. MacIntyre
21. The Uterine Microbiota
Jonah Bardos, Carlos Simón, and Inmaculada Moreno
22. Endometritis: New Times, New Opportunities
Ettore Cicinelli, Rossana Cicinelli, Carla Mariaflavia Santarsiero, and Amerigo Vitagliano
23. Decidualization Resistance: A New Condition Identified in Severe Preeclampsia
Irene Muñoz-Blat, Nerea Castillo-Marco, Teresa Cordero, Carlos Simón, and Tamara Garrido-Gómez
24. Advanced Cell Therapy for Asherman’s Syndrome
Jordi Ventura and Xavier Santamaria
25. Differential Genetic Diagnosis between Leiomyoma and Leiomyosarcoma
Alba Machado-Lopez and Aymara Mas
26. Non-Invasive Prenatal Testing (NIPT)
Nuria Balaguer, Emilia Mateu-Brull, and Miguel Milán
27. Advances in Non-Invasive Diagnosis of Single-Gene Disorders and Fetal Exome
Sequencing
Liesbeth Vossaert, Roni Zemet, and Ignatia B. Van den Veyver
28. Chromosome Abnormalities in Human Pregnancy Loss: A Review of Cytogenetic and Molecular Analyses
Kathy Hardy and Terry Hassold
29. Products of Conception: Current Methodologies and Clinical Applications
Nasser Al-Asmar and Marcia Riboldi
30. Mother and Embryo Cross Communication during Conception
Anna Idelevich, Andrea Peralta, and Felipe Vilella
31. Perinatal and Pediatric Outcome of Pregnancies Following PGT-M/SR/A
Malou Heijligers and Christine de Die-Smulders
32. Genetic Counseling in Assisted Reproductive Technology
Alyssa Snider and Juliana Cuzzi
Index
Biography
Carlos Simón MD, PhDCSO is Full Professor of Obstetrics and Gynecology at the University of Valencia; Adjunct Clinical Professor, Department of Ob/Gyn, Stanford University School of Medicine, California, USA; Scientific Director of Instituto Valenciano de Infertilidad and IGENOMIX, Valencia, Spain.
Carmen Rubio, PhD is Head of the Preimplantation Genetic Diagnosis program for chromosomal disorders at IGENOMIX, Valencia, Spain.
"... provides a great overview of new tests available and understanding of how these tests are being applied."
-Doody's Review Service
