Perinatal Genetics

Table of Contents

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

Authors

Mary E Norton Professor, Obstetrics, Gynecology and Reproductive Sciences, University of California at San Francisco, School of Medicine, San Francisco, California. Dr. Mary Norton is a Maternal Fetal Medicine specialist as well as a clinical geneticist. She specializes in the care of women at high risk for having a baby with a birth defect or genetic disorder. She oversees the prenatal diagnosis program at UCSF and is an expert in high-risk obstetrical ultrasound and prenatal diagnosis procedures such as amniocentesis and CVS. Her research interests include the use of new genetic technologies for fetal testing, and she is a national expert in the use of cell free DNA testing. She also has a particular interest in patient attitudes and preferences regarding prenatal testing. Jeffrey A. Kuller Professor of Obstetrics and Gynecology, Duke University Medical Center, Division of Maternal-Fetal Medicine, Durham, North Carolina. Lorraine Dugoff Chief, Division of Reproductive Genetics, Professor of Obstetrics and Gynecology, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania.