978-0323530941

Get a quick, expert overview of the fast-changing field of perinatal genetics with this concise, practical resource. Drs. Mary Norton, Jeffrey A. Kuller, and Lorraine Dugoff fully cover the clinically relevant topics that are key to providers who care for pregnant women and couples contemplating pregnancy. It's an ideal resource for Ob/Gyn physicians, maternal-fetal medicine specialists, and clinical geneticists, as well as midwives, nurse practitioners, and other obstetric providers.

Key Features

• • Provides a comprehensive review of basic principles of medical genetics and genetic counseling, molecular genetics, cytogenetics, prenatal screening options, chromosomal microarray analysis, whole exome sequencing, prenatal ultrasound, diagnostic testing, and more.
  • Contains a chapter on fetal treatment of genetic disorders.
  • Consolidates today's available information and experience in this important area into one convenient resource.

Author Information
Edited by Mary E Norton, MD, Professor, Obstetrics, Gynecology and Reproductive Sciences, University of California at San Francisco, School of Medicine, San Francisco, California; Jeffrey A. Kuller, MD, Professor of Obstetrics and Gynecology, Duke University Medical Center, Division of Maternal-Fetal Medicine, Durham, North Carolina and Lorraine Dugoff, MD, Professor of Obstetrics and Gynecology, Chief, Division of Reproductive Genetics, Maternal Fetal Medicine and Reproductive Genetics, University of Pennsylvania School of Medicine

Preface

1. Principles of Medical Genetics and Genomics 

2. Non-Mendelian Genetics 

3. Principles of Genetic Counseling 

4. Cytogenetics: Part 1, General Concepts and Aneuploid Conditions 

5. Cytogenetics: Part 2, Structural Rearrangements and Reproductive Impact 

6. Molecular Genetics 

7. Carrier Screening 

8. Serum and Ultrasound Based Screening Tests for Aneuploidy 

9. Cell Free DNA Screening 

10. Ultrasound Markers for Aneuploidy 

11. Genetic Evaluation of Fetal Sonographic Abnormalities 

12. Chromosomal Microarray Analysis 

13. Exome and Genome Sequencing 

14. Prenatal Diagnostic Testing 

15. Preimplantation Genetic Screening and Diagnosis 

16. Fetal Treatment of Genetic Disorders