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.
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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
Kuller, Jeffrey A. Professor of Obstetrics and Gynecology, Duke University Medical Center, Division of Maternal-Fetal Medicine, Durham, North Carolina.
Dugoff, Lorraine Professor of Obstetrics and Gynecology, Chief, Division of Reproductive Genetics, Maternal Fetal Medicine and Reproductive Genetics, University of Pennsylvania School of Medicine.