Main description:

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.

Contents:

1 Introduction to Perinatal Disorders and Reproductive Genetics
Susan J. Gross
2 Prenatal Screening for Neural Tube Defects and Aneuploidy
Robert G. Best
3 Techniques for Prenatal Diagnosis
Lee P. Shulman, Jeffrey S. Dungan and Andrew F. Wagner
4 Neonatal Screening
Inderneel Sahai and Richard W. Erbe
5 Hypogonadotropic and Hypergonadotropic Hypogonadism in Females: Disorders of Reproductive Ducts
Joe Leigh Simpson
6 Genetics of Male Infertility
Csilla Krausz, Viktoria Rosta, Ronald S. Swerdloff and Christina Wang
7 The Genetics of Disorders Affecting the Premature Newborn
Aaron R. Prosnitz, Jeffrey R. Gruen and Vineet Bhandari
8 Fetal Loss
Rhona Schreck, John Paul Govindavari and John Williams III
9 Preeclampsia
Anthony R. Gregg
10 Noninvasive Prenatal Testing and Noninvasive Prenatal Screening
Charles M. Strom
11 Preimplantation Genetic Testing
Svetlana A. Yatsenko and Aleksandar Rajkovic
12 Expanded Carrier Screening
Ronald J. Wapner, Katie Johansen Taber, Gabriel Lazarin and James D. Goldberg