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Down Syndrome Screening A Practical Guide
Author
Title
Down Syndrome Screening [electronic resource] : A Practical Guide / by Abhijit Kamat.
ISBN
9789819977581
Edition
1st ed. 2023.
Publication
Singapore : Springer Nature Singapore : Imprint: Springer, 2023.
Physical Description
1 online resource (XXXVIII, 341 p.) 63 illus., 46 illus. in color.
Local Notes
Access is available to the Yale community.
Access and use
Access restricted by licensing agreement.
Summary
The book elucidates a practical method for prenatal screening and detecting Down syndrome in a simple and easy-to-understand language. It provides thorough knowledge on the subject, and each chapter covers a specific topic, making this book an essential quick-reference guide for every antenatal clinic. The book contains chapters on maternal serum screening, noninvasive prenatal testing (NIPT), invasive testing with amniocentesis and CVS, and screening in twins. It also includes advanced chapters on multi-step screening protocols, uncommon aneuploidies, screening for preeclampsia, and open neural tube defects for clinicians interested in fetal medicine. Down syndrome is the most typical genetic condition affecting over 5 million individuals globally. Rapid advances in the medical field make it possible to identify most of these babies before birth. Hence, aneuploidy screening is now offered to pregnant women worldwide. The book aims to help obstetricians and gynecologists diagnose Down syndrome and other aneuploidies in pregnancy, avoid unnecessary testing, and remain safely within medico-legal boundaries. It is also helpful for fetal medicine students. The book helps the readers address challenging clinical scenarios and confusing test results.
Variant and related titles
Springer ENIN.
Other formats
Printed edition:
Printed edition:
Printed edition:
Format
Books / Online
Language
English
Added to Catalog
January 23, 2024
Contents
Chapter 1 Down Syndrome: Historical and Ethical Perspectives
Chapter 2 Down Syndrome: Genetics and Clinical Features
Chapter 3 Ultrasound markers of aneuploidy at 11-14 weeks
Chapter 4 Maternal Serum Markers used for Screening
Chapter 5 Single-step maternal serum screening and pre-test counseling
Chapter 6 Non-invasive Prenatal Screening (NIPS)
Chapter 7 Limitations of NIPS
Chapter 8 Interpreting normal and abnormal screening reports and post-test counseling
Chapter 9 Second Trimester Soft Markers for Aneuploidy
Chapter 10 Invasive Testing for aneuploidy
Chapter 11 Aneuploidy screening in Twins
Chapter 12 Putting It All Together: A Stepwise Approach
Chapter 13 Integrated, Contingent, and Sequential Screening
Chapter 14 Special situations in screening
Chapter 15 Trisomy 13, Trisomy 18 and Other Aneuploidies
Chapter 16 Screening for Pre-eclampsia
Chapter 17 Screening for Open Neural Tube Defects.
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