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

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

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.

EDITOR(S)

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.