Fully revised and up-to-date, this new edition introduces genetic researchers, students and healthcare professionals to genomic technologies, testing and therapeutic applications
Examines key topics and developing methods within genomic testing and therapeutics, including single gene testing, whole genome and whole exome sequencing, gene therapy and genome editing, variant Interpretation and classification, and ethical aspects of applying genomic technologies
Includes color images that support the identification, concept illustration, and method of processing
Features contributions by leading international researchers and practitioners of medical genetics
Provides a robust companion website that offers further teaching tools and links to outside resources and articles to stay up-to-date on the latest developments in the field
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