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Cover image for Prenatal Diagnostic Testing for Genetic Disorders The revolution of the Non-Invasive Prenatal Test
Title:
Prenatal Diagnostic Testing for Genetic Disorders The revolution of the Non-Invasive Prenatal Test
Author:
Di Renzo, Gian Carlo. editor.
ISBN:
9783031317583
Edition:
1st ed. 2023.
Physical Description:
XVII, 451 p. 51 illus., 45 illus. in color. online resource.
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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