Perinatal Genetics

Edited by Mary E Norton, MD, Jeffrey A. Kuller, MD and Lorraine Dugoff, MD
Publication Date
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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.

Key Features
  • 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.


ISBN 9780323530941
Author Information Edited by Mary E Norton, MD, Professor, Obstetrics, Gynecology and Reproductive Sciences, University of California at San Francisco, School of Medicine, San Francisco, California; Jeffrey A. Kuller, MD, Professor of Obstetrics and Gynecology, Duke University Medical Center, Division of Maternal-Fetal Medicine, Durham, North Carolina and Lorraine Dugoff, MD, Chief, Division of Reproductive Genetics Professor of Obstetrics and Gynecology at the Hospital of the University of Pennsylvania USA DocuSign Envelope ID: A795DBF7-B592-4AB8-9DA6-A08FF519DECA
Published Reviews

"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!

Table of Content


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

Publication Date 21-01-2019
Pages 192
Trim 235 x 191 (7 1/2 x 9 1/4)
Stock Status In Stock
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