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Perinatal Genetics
Elsevier - Health Sciences Division (Verlag)
978-0-323-53094-1 (ISBN)
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.
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 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
Erscheinungsdatum | 24.01.2019 |
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Verlagsort | Philadelphia |
Sprache | englisch |
Maße | 191 x 235 mm |
Gewicht | 450 g |
Themenwelt | Medizin / Pharmazie ► Medizinische Fachgebiete ► Gynäkologie / Geburtshilfe |
Medizin / Pharmazie ► Medizinische Fachgebiete ► Pädiatrie | |
Studium ► 2. Studienabschnitt (Klinik) ► Humangenetik | |
ISBN-10 | 0-323-53094-X / 032353094X |
ISBN-13 | 978-0-323-53094-1 / 9780323530941 |
Zustand | Neuware |
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