BOOK
Prenatal Screening and Diagnosis, An Issue of Clinics in Laboratory Medicine - E-Book
Anthony O. Odibo | David A. Krantz
(2010)
Additional Information
Book Details
Abstract
This issue of Clinics in Laboratory Medicine, Guest Edited by Anthony Odibo and David Krantz, will feature article topics such as: Screening for Chromosomal abnormalities; Cystic fibrosis screening; The role of second-trimester screening, in the post-first trimester screening era; Modifying risk for Aneuploidy with second-trimester ultrasound after a positive serum screen; Cost-effectiveness of Down syndrome screening paradigms; Biochemical and biophysical screening for the risk of Preterm delivery; Pre-implantation genetic diagnosis; Prenatal testing for infectious disease, Thrombophilias, Preeclampsia, Neural Tube Defects; Management of Multiple Pregnancy; Genetic Counseling Issues in Down syndrome Screening; First Trimester Ultrasound Markers; Quality Control of Nuchal Translucency; Clinical Implications of First Trimester Screening; Adverse Pregnancy Outcomes after Positive Screening; First Trimester Combined Screening: Instant Risks Approach.
Table of Contents
| Section Title | Page | Action | Price |
|---|---|---|---|
| Front Cover | cover | ||
| Contributors | iii | ||
| Contents | vii | ||
| Preface Prenatal Screening and Diagnosis | xv | ||
| Chapter 1. Preimplantation Genetic Testing: Indications and Controversies | 519 | ||
| HISTORY AND DEFINITION | 520 | ||
| INDICATIONS FOR PGD | 520 | ||
| TECHNIQUES | 522 | ||
| GENOMIC TESTING | 523 | ||
| DIAGNOSTIC ACCURACY | 524 | ||
| CONTROVERSIES | 525 | ||
| SUMMARY | 527 | ||
| REFERENCES | 528 | ||
| Chapter 2. An Update on Cystic Fibrosis Screening | 533 | ||
| THE GENETICS OF CF | 533 | ||
| PHENOTYPIC VARIATION IN CFTR MUTATIONS | 534 | ||
| CARRIER SCREENING FOR CF | 535 | ||
| ANTENATAL ULTRASONOGRAPHIC FINDINGS ASSOCIATED WITH CF | 539 | ||
| PRENATAL DIAGNOSIS OF CF | 539 | ||
| REPRODUCTIVE OPTIONS FOR CARRIER COUPLES | 540 | ||
| SUMMARY | 540 | ||
| APPENDIX A: STANDARD 23-MUTATION PANEL FOR CF CARRIER SCREENING | 541 | ||
| REFERENCES | 541 | ||
| Chapter 3. An Overview of First- Trimester Screening for Chromosomal Abnormalities | 545 | ||
| FIRST-TRIMESTER ULTRASOUND MARKERS | 546 | ||
| NUCHAL TRANSLUCENCY | 546 | ||
| FIRST-TRIMESTER SERUM ANALYTES | 548 | ||
| GESTATIONAL AGE AND THE ACCURACY OF FIRST-TRIMESTER SCREEN | 548 | ||
| OTHER FIRST-TRIMESTER SERUM MARKERS | 549 | ||
| COMBINED MATERNAL SERUM AND SONOGRAPHIC MARKERS | 549 | ||
| COMBINING FIRST- AND SECOND-TRIMESTER SCREENING | 550 | ||
| CURRENT STATUS OF FIRST TRIMESTER–BASED ANEUPLOIDY SCREENING IN THE UNITED STATES | 552 | ||
| SUMMARY | 553 | ||
| REFERENCES | 553 | ||
| Chapter 4. First-Trimester Genetic Counseling: Perspectives and Considerations | 557 | ||
| BACKGROUND | 557 | ||
| CONSIDERATIONS | 558 | ||
| PERSPECTIVES | 559 | ||
| CONSIDERATIONS | 560 | ||
| REFERENCES | 562 | ||
| Chapter 5. First-Trimester Screening for Chromosomal Abnormalities: Advantages of an Instant Results Approach | 565 | ||
| BIOCHEMICAL SCREENING FOR FETAL ANEUPLOIDY | 566 | ||
| FIRST TRIMESTER SCREENING AND INTEGRATED ALGORITHMS | 566 | ||
| BENEFITS AND CONTROVERSIES IN FIRST TRIMESTER SCREENING | 567 | ||
| LOGISTICS OF FIRST TRIMESTER AND SEQUENTIAL SCREENING PROGRAMS | 568 | ||
| SUMMARY | 570 | ||
| REFERENCES | 570 | ||
| Chapter 6. Additional First-Trimester Ultrasound Markers | 573 | ||
| FIRST-TRIMESTER ULTRASOUND (11–13 +6 WEEKS’ GESTATION) | 573 | ||
| ULTRASOUND MARKERS | 574 | ||
| MARKERS LOCATED ON THE FETAL HEAD AND NECK | 575 | ||
| MARKERS WITHIN THE FETAL CARDIOVASCULAR SYSTEM | 579 | ||
| ACQUIRING PROFICIENCY IN ULTRASOUND MARKER EVALUATION | 582 | ||
| USE OF ADDITIONAL ULTRASOUND MARKERS IN SCREENING FOR TRISOMY 21 | 582 | ||
| SUMMARY | 583 | ||
| REFERENCES | 583 | ||
| Chapter 7. Monitoring Quality Control of Nuchal Translucency | 593 | ||
| MAIN SCREENING MARKERS | 593 | ||
| MOST DISCRIMINATORY SINGLE MARKER | 594 | ||
| MULTIMARKER SCREENING | 594 | ||
| MULTIMARKER TESTS INCLUDING NT | 595 | ||
| MODEL PREDICTIONS | 596 | ||
| CONSEQUENCES OF NT ERRORS | 597 | ||
| EVIDENCE FOR SUBOPTIMAL PERFORMANCE | 599 | ||
| QUALITY CONTROL METHODS | 600 | ||
| QUALITY MONITORING RESULTS | 602 | ||
| SUMMARY | 602 | ||
| REFERENCES | 603 | ||
| Chapter 8. Clinical Implications of First-Trimester Screening | 605 | ||
| PHYSICIAN EDUCATION | 605 | ||
| RATE OF INVASIVE PRENATAL DIAGNOSIS | 606 | ||
| GESTATIONAL AGE AT ABORTION | 607 | ||
| ADDITIONAL BENEFITS OF ULTRASOUND AT 11 TO 14 WEEKS | 608 | ||
| ADDITIONAL BENEFITS OF BIOCHEMISTRY AT 9 TO 14 WEEKS | 609 | ||
| SUMMARY | 609 | ||
| REFERENCES | 609 | ||
| Chapter 9. Adverse Pregnancy Outcomes After Abnormal First- Trimester Screening for Aneuploidy | 613 | ||
| THICKENED NUCHAL TRANSLUCENCY | 613 | ||
| ABNORMAL FIRST TRIMESTER ANATOMY | 617 | ||
| EXTREMES OF FIRST TRIMESTER MATERNAL SERUM ANALYTES AND ADVERSE PREGNANCY OUTCOMES | 617 | ||
| SUMMARY | 623 | ||
| REFERENCES | 623 | ||
| Chapter 10. Cost-Effectiveness of Down Syndrome Screening Paradigms | 629 | ||
| ECONOMIC ANALYSES IN HEALTH CARE | 630 | ||
| COST-EFFECTIVENESS ANALYSIS METHODOLOGY | 631 | ||
| COST-EFFECTIVENESS ANALYSIS OF THE PRENATAL DIAGNOSIS | 633 | ||
| ECONOMIC ANALYSES OF FIRST-TRIMESTER SCREENING FOR DOWN SYNDROME | 635 | ||
| COST EFFECTIVENESS OF CONTINGENT SCREENING | 638 | ||
| METHODOLOGIC ISSUES AND CONCERNS | 639 | ||
| SUMMARY | 640 | ||
| REFERENCES | 640 | ||
| Chapter 11. Screening and Testing in Multiples | 643 | ||
| MULTIPLE PREGNANCIES | 643 | ||
| DIAGNOSTIC PROCEDURES | 646 | ||
| CVS AND MFPR | 650 | ||
| SUMMARY | 651 | ||
| REFERENCES | 652 | ||
| Chapter 12. Noninvasive Prenatal Diagnosis: 2010 | 655 | ||
| FETAL CELLS | 656 | ||
| ENDOCERVICAL FETAL TROPHOBLASTS | 656 | ||
| FREE-FETAL DNA AND RNA | 658 | ||
| RNA–SINGLE-NUCLEOTIDE POLYMORPHISM ALLELIC RATIOS | 659 | ||
| DIGITAL POLYMERASE CHAIN REACTION | 660 | ||
| MULTIPLE PARALLEL GENOMIC SEQUENCING | 660 | ||
| RH DISEASE AND OTHER MENDELIAN DISORDERS | 661 | ||
| FETAL GENDER DETERMINATION | 661 | ||
| SUMMARY | 662 | ||
| REFERENCES | 663 | ||
| Chapter 13. The Role of Second-Trimester Serum Screening in the Post–First-Trimester Screening Era | 667 | ||
| SCREENING MARKERS | 668 | ||
| SECOND-TRIMESTER SCREENING | 669 | ||
| CURRENT CROSS-TRIMESTER MULTIMARKER SCREENING PROTOCOLS | 671 | ||
| SUMMARY | 673 | ||
| REFERENCES | 674 | ||
| Chapter 14. Modifying Risk for Aneuploidy with Second-Trimester Ultrasound After a Positive Serum Screen | 677 | ||
| EVOLUTION OF PRENATAL DIAGNOSIS | 678 | ||
| THE GENETIC SONOGRAM | 679 | ||
| MODIFYING ANEUPLOIDY RISK WITH THE GENETIC SONOGRAM | 685 | ||
| SUMMARY | 690 | ||
| REFERENCES | 690 | ||
| Chapter 15. Biophysical and Biochemical Screening for the Risk of Preterm Labor | 693 | ||
| CERVICAL LENGTH ASSESSMENT | 694 | ||
| FETAL FIBRONECTIN | 699 | ||
| GESTATIONAL AGE- AND RISK-SPECIFIC APPROACH TO USING CERVICAL LENGTH AND FFN IN CLINICAL EVALUATION AND MANAGEMENT | 701 | ||
| SUMMARY | 704 | ||
| REFERENCES | 704 | ||
| Chapter 16. Toxoplasmosis, Parvovirus, and Cytomegalovirus in Pregnancy | 709 | ||
| TOXOPLASMOSIS | 709 | ||
| PARVOVIRUS | 712 | ||
| CYTOMEGALOVIRUS | 714 | ||
| SUMMARY | 716 | ||
| REFERENCES | 717 | ||
| Chapter 17. Screening for Open Neural Tube Defects | 721 | ||
| REFERENCES | 724 | ||
| Chapter 18. First- and Second-Trimester Screening for Preeclampsia and Intrauterine Growth Restriction | 727 | ||
| PATHOPHYSIOLOGY | 728 | ||
| PRINCIPLES OF SCREENING | 728 | ||
| SPECIFIC SCREENING TESTS | 730 | ||
| SUMMARY | 740 | ||
| REFERENCES | 740 | ||
| Chapter 19. Prenatal Screening for Thrombophilias: Indications and Controversies | 747 | ||
| INHERITED THROMBOPHILIAS | 748 | ||
| ACQUIRED THROMBOPHILIAS | 749 | ||
| HISTORY OF VTE | 750 | ||
| KNOWN THROMBOPHILIA WITH NO HISTORY OF VTE | 751 | ||
| ADVERSE PREGNANCY OUTCOMES | 752 | ||
| INTRAUTERINE GROWTH RESTRICTION | 753 | ||
| THROMBOPHILIA TESTING | 754 | ||
| THROMBOPROPHYLAXIS | 755 | ||
| SUMMARY | 756 | ||
| REFERENCES | 756 | ||
| Index | 761 |