Meet the editor

Dr. Israel Gomy graduated in Medicine at Pontificia Universidade Católica do Paraná, Curitiba, Brazil. He received his Master's degree in Biomedical Research at Universidade de São Paulo, Ribeirão Preto, Brazil, and his PhD in Oncology at Fundação Antônio Prudente, São Paulo, Brazil. Dr. Gomy is an assistant professor at Faculdades Pequeno Príncipe, Curitiba, Brazil, and an assistant physician at Hospital de Clínicas da Universidade

Federal do Paraná, Curitiba, Brazil. He is also a postdoctoral researcher in medical oncology at Dana-Farber Cancer Institute, Boston, USA.

Contents

**Section 1**

Medicine *by Israel Gomy*

**Section 2**

**Section 3**

Enough Information?

*by Tom Nolis and Rodney J. Scott*

*and Esther López-Bayghen*

Fertilization Procedures: In Favor of PGT

Diagnosis of Congenital Malformations *by Gladys Cristina Al Jashi and Isam Al Jashi*

**Preface III**

Introduction **1**

**Chapter 1 3** Modern Medical Genetics and Genomics in the Era of Personalized/Precision

Reproductive and Prenatal Genetics **9**

**Chapter 2 11**

**Chapter 3 37**

**Chapter 4 57** Screening (Bi Test, Triple Test, Panorama Test) and Amniocentesis for Early

Cancer Genetics **73**

**Chapter 5 75**

Genetic Contributors to Hereditary Cancer Predispositions: Do We Have

The Genetic and Biochemical Blueprint of Endometrial Receptivity: Past, Present, and Future Factors Involved in Embryo Implantation Success

Aneuploidy Rates Inversely Correlate with Implantation during *In Vitro*

*by Elizabeth Schaeffer, Leonardo Porchia, Almena López-Luna,* 

*Dinorah Hernández-Melchor and Esther López-Bayghen*

*by Almena López-Luna, Dinorah Hernández-Melchor, Leticia Ramírez-Martínez* 

## Contents


Preface

The field of medical genetics and genomics is undergoing a constant revolution based on new breakthroughs that bring increasing insights into the etiology of rare and common diseases, which help improve the health care of individuals with these

The development of high-throughput technologies such as next-generation sequencing (NGS) has enabled the detection of inherited susceptibilities and actionable mutational profiles of tumors for tailored therapies and management. Additionally, the generation of such massive amounts of data has prompted advances in the field of bioinformatics, with regard to complex tools and numerous databases to guide the interpretation of such big data, and to deal with noninformative results such as the notorious variants of uncertain significance. Besides these technical challenges, important ethical issues must also be considered: for example, the disclosure of results from prenatal and newborn screening through NGS, and findings from population-level screening of asymptomatic individuals. Addressing such challenges is not easy. We propose that investigators must provide tentative answers for one vital question: What is the analytic validity, clinical validity, and

This book aims to depict some of the myriad applications of genetics and genomics in the practice of medicine. We present the material in three sections: (1) an introductory landscape of medical genetics and genomics and portraits of personalized genomic medicine; (2) the field of reproductive genetics and prenatal screening: the first two chapters of this section deal with the most critical factors involved in the success of embryo implantation through assisted reproductive technology, including endometrial receptivity and rates of embryonic aneuploidy; the third chapter evaluates the accuracy of invasive and noninvasive prenatal screening for predicting the risk of fetal malformations; and (3) the area of hereditary cancer genetics, wherein is presented an updated review of the clinical utility of genetic testing, as

exemplified by the description of hereditary breast and ovarian cancers.

and challenging era of personalized or precision medicine.

Even though the information presented here offers a very limited look at the modern-day developments and breakthroughs of the centenarian field of medical genetics, this book nevertheless provides an important glimpse of the fascinating

**Israel Gomy**

Curitiba, Brazil

Universidade Federal do Paraná,

disorders.

clinical utility of genetic testing?
