Handbook of Genetic Diagnostic Technologies in Reproductive Medicine

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

REVIEW-URI