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Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics

Perinatal and Reproductive Genetics

7th Edition - November 2, 2021

Editors: Reed E. Pyeritz, Bruce R. Korf, Wayne W. Grody

Hardback ISBN:

9 7 8 - 0 - 1 2 - 8 1 5 2 3 6 - 2

eBook ISBN:

9 7 8 - 0 - 1 2 - 8 1 5 2 3 7 - 9

Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Perinatal and Reproductive Genetics, Seventh Edition includes the latest information on seminal topics… Read more

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Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Perinatal and Reproductive Genetics, Seventh Edition includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies in this growing field. The book is ideal for medical students, residents, physicians and researchers involved in the care of patients with genetic conditions. This comprehensive, yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly.

Chapters from leading international researchers and clinicians focus on topics ranging from single gene testing to whole genome sequencing, whole exome sequencing, gene therapy, genome editing approaches, FDA regulations on genomic testing and therapeutics, and ethical aspects of employing genomic technologies.

Cover image
Title page
Table of Contents
Copyright
LIST OF Contributors
Preface to the Seventh Edition of Emery and RIMOIN’S Principles and Practice of Medical Genetics and Genomics
Preface to Perinatal and Reproductive Genetics
1. Introduction to Perinatal Disorders and Reproductive Genetics
1.1. Introduction
1.2. Imaging During Pregnancy—A First Look
1.3. Prenatal Diagnostics—Confirming Genetic Disorders
1.4. Prenatal Screening for Genetic Disorders—Aneuploidy and Single Gene
1.5. The End of the Beginning and What Lies Ahead
1.6. Conclusion
2. Prenatal Screening for Neural Tube Defects and Aneuploidy
2.1. Introduction
2.2. Prenatal Screening for Birth Defects
2.3. Risk Determination and Thresholds
2.4. Modalities of Testing for NTD and Down Syndrome
2.5. Follow-up to Positive Screens—NTD
2.6. Maintaining and Monitoring Screening Performance
2.7. Keeping Screening in Perspective
2.8. Summary
3. Techniques for Prenatal Diagnosis
3.1. Introduction
3.2. Amniocentesis
3.3. Chorionic Villus Sampling
3.4. Fetal Blood Sampling
3.5. Fetal Skin and Tissue Biopsy Procedures
4. Neonatal Screening
4.1. Introduction
4.2. Historical Aspects
4.3. Components of Screening Programs
4.4. Potential Problems in Newborn Screening
4.5. Disorders and Conditions Detected by Newborn Blood Screening: Inborn Errors of Metabolism
4.6. Other Congenital Disorders and Conditions Detected by Newborn Blood Screening
4.7. Issues and Concerns in Screening
5. Hypogonadotropic and Hypergonadotropic Hypogonadism in Females: Disorders of Reproductive Ducts
5.1. Kallmann Syndrome and Idiopathic (Congenital) Hypogonadotropic Hypogonadism
5.2. Hypergonadotropic Hypogonadism: Historical Overview and Evolution of Scientific Approach
5.3. Mechanism of Action for Genes Causing Hypergonadotropic Hypogonadism
5.4. Related Gynecological Disorders Causing Infertility
5.5. Structural Anomalies of the Uterus and Vagina
6. Genetics of Male Infertility
6.1. Male Infertility—Introduction
6.2. Chromosome Anomalies
6.3. Gene Defects Involved in Endocrine Forms of Infertility
6.4. Monogenic Defects of Male Infertility
6.5. Syndromic Monogenic Defects
6.6. Conclusion
7. The Genetics of Disorders Affecting the Premature Newborn
7.1. Introduction
7.2. Respiratory Distress Syndrome
7.3. Bronchopulmonary Dysplasia
7.4. Patent Ductus Arteriosus
7.5. Intraventricular Hemorrhage
7.6. Retinopathy of Prematurity
7.7. Necrotizing Enterocolitis
8. Fetal Loss
8.1. Background
8.2. Definition of Terms
8.3. Early Pregnancy Loss
8.4. Late Pregnancy Loss
8.5. Evaluation and Management of Recurrent Abortion
8.6. Conclusions
9. Preeclampsia
9.1. The Preeclampsia Phenotype
9.2. Preeclampsia Is a Quantitative Trait Disorder
9.3. Preeclampsia and the Placenta
9.4. Preeclampsia Biomarkers in Clinical Use
9.5. Preeclampsia Management and Future Health
9.6. Genetic Basis of Preeclampsia
9.7. Preeclampsia and Animal Models
10. Noninvasive Prenatal Testing and Noninvasive Prenatal Screening
10.1. Precision in Screening Tests
10.2. Fetal Fraction
10.3. Sex Chromosome Aneuploidies and Gender Determination
10.4. Segmental Aneuploidies
10.5. Triploidies and Haploidies
10.6. Mendelian Disorders in NIPS
10.7. Gender Determination
10.8. Multiple Pregnancies and Vanishing Twins
10.9. Confined Placental Mosaicism
10.10. Maternal Factors
10.11. Inappropriate Use of NIPS
10.12. NIPT Paternity Testing
10.13. Noninvasive Whole Genome Fetal Sequencing
10.14. Conclusion
11. Preimplantation Genetic Testing
11.1. Introduction
11.2. Milestones in PGT
11.3. Indications for Preimplantation Genetic Testing
11.4. Technical Approaches
11.5. Testing and Analysis of Embryonic Nuclear DNA
11.6. Embryo Testing for Monogenic Conditions (PGT-M)
11.7. PGT-M for Mitochondrial Conditions
11.8. Preimplantation Genetic Testing for Structural Chromosome Rearrangements
11.9. Preimplantation Genetic Testing for Aneuploidy
11.10. Interpretation of PGT Results and Clinical Dilemmas
11.11. PGT-A: Mosaicism
11.12. Advantages and Limitations of PGT
11.13. Prenatal Follow-Up and Confirmatory Testing
11.14. Genetic Counseling
11.15. Future Technological Advances in ART and PGT
11.16. Regulatory Policies, Ethical Considerations, and Challenges in PGT
12. Expanded Carrier Screening
12.1. Introduction
12.2. History of Reproductive Carrier Screening
12.3. Expanding Carrier Screening: One Gene at a Time
12.4. Introduction of Expanded Carrier Screening Panels
12.5. Changes in Technology from Genotyping to Sequencing Drive Carrier Screening Performance Improvements
12.6. Introduction of Expanded Carrier Screening into Clinical Practice
12.7. Process of Carrier Screening
12.8. Pretest Counseling
12.9. Interpretation of Molecular Findings
12.10. Reproductive Options for Carrier Couples Identified During Pregnancy
12.11. Reproductive Options for Carrier Couples Identified Before Pregnancy
12.12. Posttest Counseling of Pregnant Carrier Couples
12.13. Preimplantation Genetic Testing for Carrier Couples
12.14. Use of PGT-M for Identifying Potential HLA Donor Embryos for Affected Siblings
12.15. Conclusions
Index

Reed E. Pyeritz

Dr. Reed Pyeritz is a medical genetics doctor in Philadelphia, Pennsylvania and is affiliated with Hospitals of the University of Pennsylvania-Penn Presbyterian. Dr. Pyeritz focuses his research in two areas – Mendelian disorders of the cardiovascular system (especially those involving defects of connective tissue) and ethical, legal and social implications of human genetics. He is continuing his studies, begun over 20 years ago, of Marfan syndrome and related conditions – diseases in which the aorta and occasionally major arterial branches gradually enlarge and dissect, leading to early demise if untreated. Current efforts include a multicenter trial of angiotensin receptor blockade in Marfan syndrome, the identification of additional genes that predispose to arteriopathy, and improving methods for diagnosing and treating arterio-venous malformations, especially in hereditary hemorrhagic telangiectasia (HHT). Dr. Pyeritz directs Penn CIGHT (Center for the Integration of Genetic Healthcare Technologies). Supported by the ELSI Branch of the National Human Genome Research Institute, Penn CIGHT conducts research in the broad area of ‘uncertainty’ as related to the introduction of evolving approaches to assaying a patient’s genotype.

Affiliations and expertise

William Smilow Professor of Medicine and Professor of Genetics, Senior Fellow, Leonard Davis Institute of Health Economics, Perelman School of Medicine, University of Pennsylvania, Smilow Center for Translational Research, Philadelphia, PA, USA

Bruce R. Korf

Bruce R. Korf is the director of the Heflin Center for Human Genetics and chairman of the Department of Genetics at the University of Alabama at Birmingham. In April 2009, he began a two-year term as president of the American College of Medical Genetics (ACMG). Korf received his M.D. from Cornell University Medical College and his Ph.D. in genetics and cell biology from Rockefeller University. He completed a residency in pediatrics, pediatric neurology, and genetics at Children's Hospital, Boston. Prior to his appointment at the University of Alabama, he served as clinical director in the Division of Genetics at Children's Hospital from 1986 to 1999, and as the medical director of the Harvard-Partners Center for Genetics and Genomics from 1999 to 2002. He was associate professor of neurology at Harvard Medical School and directed postdoctoral training in medical and laboratory genetics at hospitals affiliated with Harvard. Korf's principal area of research is neurofibromatosis. Korf is the author of Human Genetics: A Problem-Based Approach, an introductory graduate textbook used by medical students and genetic counselors. He is co-author, with Dorian Pritchard, of Medical Genetics at a Glance, and an editor of Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics.

Affiliations and expertise

Chief Genomics Officer, UAB Medicine, Wayne H. and Sara Crews Finley Endowed Chair in Medical Genetics, University of Alabama at Birmingham, Birmingham, AL, USA

Wayne W. Grody

Wayne W. Grody, M.D., Ph.D. is a Professor in the Departments of Pathology & Laboratory Medicine, Pediatrics, and Human Genetics at the UCLA School of Medicine. He is the director of the Diagnostic Molecular Pathology Laboratory within the UCLA Medical Center, and is also an attending physician in the Department of Pediatrics, specializing in the care of patients with or at risk for genetic disorders. He has been one of the primary developers of quality assurance and ethical guidelines for DNA-based genetic testing for a number of governmental and professional agencies including the FDA, AMA, CAP, ACMG, ASHG, NCCLS, CDC, NIH-DOE Human Genome Project (ELSI program), and PSRGN. He served as a member of the NIH-DOE Task Force on Genetic Testing, and was the working group chair for development of national guidelines for cystic fibrosis and factor V-Leiden mutation screening. Most recently, he was appointed chair of an Advisory Committee on Genomic Medicine for the entire VA healthcare system. He did his undergraduate work at Johns Hopkins University, received his M.D. and Ph.D. at Baylor College of Medicine, and completed residency and fellowship training at UCLA. He is double board-certified by the American Board of Pathology (Anatomic and Clinical Pathology, Molecular Genetic Pathology) and the American Board of Medical Genetics (Clinical Genetics, Molecular Genetics, and Biochemical Genetics).

Affiliations and expertise

Professor, Divisions of Medical Genetics and Molecular Diagnostics, Departments of Path. and Lab. Medicine, Pediatrics, and Human Genetics, UCLA School of Medicine, UCLA Institute for Society and Genetics, Director, Molecular Diagnostic Laboratories and Clinical Genomics Center, UCLA Medical Center, Los Angeles, CA, USA