國立高雄大學圖資館 |

Prenatal diagnostic testing for genetic disordersthe revolution of the non-invasive prenatal test /

紀錄類型:	書目-電子資源 : Monograph/item
正題名/作者:	Prenatal diagnostic testing for genetic disordersedited by Gian Carlo Di Renzo.
其他題名:	the revolution of the non-invasive prenatal test /
其他作者:	Di Renzo, G. C.
出版者:	Cham :Springer International Publishing :2023.
面頁冊數:	xvii, 451 p. :ill., digital ;24 cm.
Contained By:	Springer Nature eBook
標題:	Genetic disordersDiagnosis.
電子資源:	https://doi.org/10.1007/978-3-031-31758-3
ISBN:	9783031317583$q(electronic bk.)

Prenatal diagnostic testing for genetic disordersthe revolution of the non-invasive prenatal test /
Prenatal diagnostic testing for genetic disordersthe revolution of the non-invasive prenatal test /[electronic resource] :edited by Gian Carlo Di Renzo. - Cham :Springer International Publishing :2023. - xvii, 451 p. :ill., digital ;24 cm.

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.

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 explores the potential of NIPT to provide full genome screening of the fetus and identify many common or rare disorders. The counseling process, as well as the limitations and pitfalls of various techniques used to perform NIPT, are described, evaluated, and critically discussed by renowned international experts. The book also compares the new technology with more conventional tests, preimplantation diagnosis, and the invasive procedures currently in use. This book will be a valuable resource for gynecologists, obstetricians, geneticists, maternal-fetal medicine specialists, pathologists, neonatologists, reproductive medicine specialists, midwives, and anyone interested in prenatal genetic diagnosis.

ISBN: 9783031317583$q(electronic bk.)

Standard No.: 10.1007/978-3-031-31758-3doiSubjects--Topical Terms:

958749
Genetic disorders
--Diagnosis.

LC Class. No.: RB155.6

Dewey Class. No.: 616.042

Prenatal diagnostic testing for genetic disordersthe revolution of the non-invasive prenatal test /
LDR:04107nmm a2200325 a 4500 001 648875
003 DE-He213
005 20230721145012.0
006 m d
007 cr nn 008maaau
008 240116s2023 sz s 0 eng d
020 $a 9783031317583$q(electronic bk.)
020 $a 9783031317576$q(paper)
024 7 $a 10.1007/978-3-031-31758-3 $2 doi
035 $a 978-3-031-31758-3
040 $a GP $c GP
041 0 $a eng
050 4 $a RB155.6
072 7 $a MJT $2 bicssc
072 7 $a MED033000 $2 bisacsh
072 7 $a MKC $2 thema
082 0 4 $a 616.042 $2 23
090 $a RB155.6 $b .P923 2023
245 0 0 $a Prenatal diagnostic testing for genetic disorders $h [electronic resource] : $b the revolution of the non-invasive prenatal test / $c edited by Gian Carlo Di Renzo.
260 $a Cham : $b Springer International Publishing : $b Imprint: Springer, $c 2023.
300 $a xvii, 451 p. : $b ill., digital ; $c 24 cm.
505 0 $a 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.
520 $a 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 explores the potential of NIPT to provide full genome screening of the fetus and identify many common or rare disorders. The counseling process, as well as the limitations and pitfalls of various techniques used to perform NIPT, are described, evaluated, and critically discussed by renowned international experts. The book also compares the new technology with more conventional tests, preimplantation diagnosis, and the invasive procedures currently in use. This book will be a valuable resource for gynecologists, obstetricians, geneticists, maternal-fetal medicine specialists, pathologists, neonatologists, reproductive medicine specialists, midwives, and anyone interested in prenatal genetic diagnosis.
650 0 $a Genetic disorders $x Diagnosis. $3 958749
650 0 $a Prenatal diagnosis. $3 393654
650 1 4 $a Gynecology. $3 230246
650 2 4 $a Reproductive Medicine. $3 277277
650 2 4 $a Medical Genetics. $3 911830
700 1 $a Di Renzo, G. C. $q (Gian Carlo) $3 776736
710 2 $a SpringerLink (Online service) $3 273601
773 0 $t Springer Nature eBook
856 4 0 $u https://doi.org/10.1007/978-3-031-31758-3
950 $a Medicine (SpringerNature-11650)