Perinatal Genetics

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.

• Preface 1. Principles of Medical Genetics and Genomics2. Non-Mendelian Genetics3. Principles of Genetic Counseling4. Cytogenetics: Part 1, General Concepts and Aneuploid Conditions 5. Cytogenetics: Part 2, Structural Rearrangements and Reproductive Impact6. Molecular Genetics7. Carrier Screening8. Serum and Ultrasound Based Screening Tests for Aneuploidy9. Cell Free DNA Screening10. Ultrasound Markers for Aneuploidy11. Genetic Evaluation of Fetal Sonographic Abnormalities12. Chromosomal Microarray Analysis13. Exome and Genome Sequencing14. Prenatal Diagnostic Testing15. Preimplantation Genetic Screening and Diagnosis16. Fetal Treatment of Genetic Disorders

"The book is a pleasure to read , for the quality of information; and hence the book is, something one would keep with them for reference"  "This book is unique. It is a brief, pocket-sized review and resource for clinicians. There are few comparisons as most books on this topic tend to be all inclusive. This book is well done."-Luis F Escobar, MD., MS (Peyton Manning Children's Hospital) Doody's Review Score: 98- 5 Stars!