Prenatal diagnostic testing for genetic disorders : the revolution of the non-invasive prenatal test

Prenatal diagnostic testing for genetic disorders : the revolution of the non-invasive prenatal test / Gian Carlo Di Renzo, editor.

This comprehensive volume covers all aspects of the revolution in prenatal diagnosis brought about by the introduction of non-invasive prenatal testing (NIPT), which primarily relies on the detection of free fetal DNA circulating in maternal blood from the early stages of pregnancy. The book explore...

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Bibliographic Details
Other Authors: Di Renzo, G. C. (Gian Carlo) (Editor)
Format: eBook
Language:English
Published: Cham, Switzerland : Springer, [2023]
Subjects:
Genetic disorders > Diagnosis.
Prenatal diagnosis.
Genetic disorders > Diagnosis
Prenatal diagnosis
Online Access:Click for online access
Table of Contents:
  • Preface
  • 1. Introduction
  • 2. A brief history of non-invasive prenatal diagnosis and its forecast
  • Part 1. Clinical Genetics
  • 3. The Nexus Between Chromosomal Abnormalities and Single Gene Disorders
  • 4. Clinical implications of chromosomal polymorphisms in congenital disorders
  • 5. Placental genetics. Fetus-placental discrepances: Challenges in prenatal genetic diagnosis
  • 6. Underpinnings of the Conundrum Between Genetic Screening and Testing
  • 7. Epidemiology of birth defects in twins
  • 8. Screening of aneuploidies in twin pregnancies
  • Part 2. Non Invasive Diagnosis
  • 9. Congenital Anomalies: the Role of Ultrasound
  • 10. Customary complications and screening techniques of early pregnancy
  • 11. First trimester screening for common and rare chromosomal abnormalities as well as for major defects which tests should be combined?
  • 12. The Technology of Cell Free Fetal DNA-based NIPT
  • 13. The technologies: comparisons on efficiency, reliability and costs
  • 14. Pre and Post Test Counseling
  • 15. CfDNA testing in IVF pregnancies
  • 16. RATs Rare autosomal trisomies and their relevance in cfDNA testing
  • 17. Rapid Detection of Fetal Mendelian Disorders: Thalassemia and Sickle Cell Syndrome
  • 18. Noninvasive Antenatal Screening for Fetal RHD in RhD Negative Women to Guide Targeted Anti-D Prophylaxis
  • 19. Genome Wide Cell Free Fetal DNA-based Prenatal Testing: Limits and Perspectives
  • Part 3. Clinical setting and trends
  • 20. Developing and delivering a clinical service for the non-invasive prenatal diagnosis of monogenic conditions
  • 21. Counseling in a changing world of genetics
  • 22. Maternal Secondary Genomic Findings Detected By Fetal Genetic Testing
  • 23. Prenatal genome-wide sequencing for the investigation of fetal structural anomalies - is there a role for non-invasive prenatal diagnosis?
  • 24. Cross-cultural Perspectives on Noninvasive Prenatal Testing
  • 25. International Guidelines for implementation of NIPT
  • 26. Overview of Preimplantation Genetic Diagnosis (PGD): Historical Perspective and Future Directions.

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