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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.
- 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.
List 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
About the author
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.
Report
"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!
