Prenatal Diagnostic Testing for Genetic Disorders The revolution of the Non-Invasive Prenatal Test
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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Format: | eBook |
Language: | English |
Published: |
Cham
Springer International Publishing
2023, 2023
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Edition: | 1st ed. 2023 |
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Online Access: | |
Collection: | Springer eBooks 2005- - Collection details see MPG.ReNa |
Table of Contents:
- 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?
- 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
- 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