Prenatal Diagnostic Testing for Genetic Disorders
portes grátis
Prenatal Diagnostic Testing for Genetic Disorders
The revolution of the Non-Invasive Prenatal Test
Di Renzo, Gian Carlo
Springer International Publishing AG
07/2023
451
Dura
Inglês
9783031317576
15 a 20 dias
Descrição não disponível.
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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NIPT;Fetal aneuploidies;Genetic counseling;Combined prenatal test;Prenatal screening
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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