2nd Edition

Handbook of Genetic Diagnostic Technologies in Reproductive Medicine Improving Patient Success Rates and Infant Health

Edited By Carlos Simón, Carmen Rubio Copyright 2022
    409 Pages 121 Color & 6 B/W Illustrations
    by CRC Press

    409 Pages 121 Color & 6 B/W Illustrations
    by CRC Press

    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.



    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


    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



    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