BOOK
Prenatal Screening and Diagnosis, An Issue of the Clinics in Laboratory Medicine, E-Book
Anthony O. Odibo | David A. Krantz
(2016)
Additional Information
Book Details
Abstract
This issue of Clinics in Laboratory Medicine, edited by Drs. Anthony Odibo and David A. Krantz, covers issues surrounding Prenatal Screening and Diagnosis. Topics examined in this issue include, but are not limited to: Strategies for Implementing cfDNA Testing; Genetic Counselling for Patients Considering Screening and Diagnosis of Chromosomal Abnormalities; Microdeletions/Duplications; Sex Chromosome Abnormalities; First-, Second- and Third-Trimester Screening for Preeclampsia and Intrauterine Growth Restriction; Biophysicial/Biochemical Screening for the Risk of Preterm Labor; Preimplantation Genetic Testing; Toxoplasmosis, Parvovirus and Cytomegalovirus in Pregnancy; and Sleep Apnea and Adverse pregnancy Outcomes.
Table of Contents
| Section Title | Page | Action | Price |
|---|---|---|---|
| Front Cover | Cover | ||
| Prenatal Screening andDiagnosis: An Update | i | ||
| Copyright\r | ii | ||
| Contributors | iii | ||
| EDITORS | iii | ||
| AUTHORS | iii | ||
| Contents | vii | ||
| Preface: Prenatal Screening: The Birth of a New Era\r | vii | ||
| Cell-free DNA: Comparison of Technologies\r | vii | ||
| Strategies for Implementing Cell-Free DNA Testing\r | vii | ||
| Genetic Counseling for Patients Considering Screening and Diagnosis for Chromosomal Abnormalities\r | vii | ||
| Cost-Effectiveness of Old and New Technologies for Aneuploidy Screening\r | viii | ||
| Modifying Risk of Aneuploidy with a Positive Cell-Free Fetal DNA Result\r | viii | ||
| Chromosomal Microarrays for the Prenatal Detection of Microdeletions and Microduplications\r | viii | ||
| Genetic Carrier Screening in the Twenty-first Century\r | viii | ||
| Screening and Testing in Multiples\r | ix | ||
| Inverted Pyramid of Care\r | ix | ||
| Aspirin for the Prevention of Preeclampsia and Intrauterine Growth Restriction\r | ix | ||
| First-, Second-, and Third-Trimester Screening for Preeclampsia and Intrauterine Growth Restriction\r | x | ||
| Maternal Serum Analytes as Predictors of Fetal Growth Restriction with Different Degrees of Placental Vascular Dysfunction\r | x | ||
| Biophysical and Biochemical Screening for the Risk of Preterm Labor: An Update\r | x | ||
| The Past, Present, and Future of Preimplantation Genetic Testing\r | x | ||
| Screening for Open Neural Tube Defects\r | xi | ||
| Toxoplasmosis, Parvovirus, and Cytomegalovirus in Pregnancy\r | xi | ||
| Prenatal Screening for Thrombophilias: Indications and Controversies, an Update\r | xi | ||
| Sleep Disordered Breathing and Adverse Pregnancy Outcomes\r | xii | ||
| CLINICS IN LABORATORY MEDICINE\r | xiii | ||
| FORTHCOMING ISSUES | xiii | ||
| September 2016 | xiii | ||
| December 2016 | xiii | ||
| March 2017 | xiii | ||
| RECENT ISSUES | xiii | ||
| March 2016 | xiii | ||
| December 2015 | xiii | ||
| September 2015 | xiii | ||
| Preface\rPrenatal Screening: The Birth of a New Era | xv | ||
| Cell-free DNA | 199 | ||
| Key points | 199 | ||
| INTRODUCTION | 199 | ||
| CELL-FREE DNA | 200 | ||
| DNA | 201 | ||
| SCREENING FOR ANEUPLOIDY | 201 | ||
| THE MASSIVE PARALLEL SHOTGUN SEQUENCING APPROACH | 201 | ||
| THE TARGETED MASSIVELY PARALLEL SEQUENCING APPROACH | 203 | ||
| THE SINGLE NUCLEOTIDE POLYMORPHISM APPROACH | 203 | ||
| SCREENING FOR ANEUPLOIDY: INVESTIGATIONAL APPROACHES | 204 | ||
| ASSAY | 205 | ||
| FREE FETAL RNA IN MATERNAL PLASMA | 205 | ||
| REINTRODUCTION OF FETAL CELLS | 205 | ||
| ENDOCERVICAL FETAL TROPHOBLASTS | 206 | ||
| DNA IN PRENATAL SCREENING | 207 | ||
| REFERENCES | 207 | ||
| Strategies for Implementing Cell-Free DNA Testing | 213 | ||
| Key points | 213 | ||
| INTRODUCTION | 213 | ||
| Screening Tests | 214 | ||
| Conventional Down Syndrome Screening | 214 | ||
| Types of Cell-Free DNA Test | 214 | ||
| Discriminatory Power of Cell-Free DNA Testing for Down Syndrome | 216 | ||
| Cell-Free DNA Screening Strategies | 216 | ||
| Cost-Effectiveness | 216 | ||
| Test No-Calls | 218 | ||
| Cell-Free DNA Performance for Other Aneuploidies | 219 | ||
| Reasons for False-Positive and False-Negative Results | 221 | ||
| Biological causes of false-positive cell-free DNA results | 221 | ||
| Biological causes of false-negative cell-free DNA results | 222 | ||
| Twins | 222 | ||
| Subchromosomal Abnormalities | 223 | ||
| Continuing Role for Nuchal Translucency and First-Trimester Markers | 223 | ||
| REFERENCES | 223 | ||
| Genetic Counseling for Patients Considering Screening and Diagnosis for Chromosomal Abnormalities | 227 | ||
| Key points | 227 | ||
| INTRODUCTION | 227 | ||
| PRETEST COUNSELING | 228 | ||
| USE OF EDUCATIONAL TOOLS | 229 | ||
| SCREENING VERSUS DIAGNOSTIC TESTING | 229 | ||
| COUNSELING AFTER POSITIVE ANEUPLOIDY SCREENING | 231 | ||
| RECOGNITION OF THE IMPORTANCE OF PATIENT VALUES AND PREFERENCES IN DECISION MAKING | 231 | ||
| INDICATIONS FOR GENETIC COUNSELING | 232 | ||
| GENETIC COUNSELING AFTER ABNORMAL DIAGNOSTIC TESTING | 233 | ||
| GENETIC NONDISCRIMINATION ACT | 234 | ||
| SUMMARY | 234 | ||
| REFERENCES | 234 | ||
| Cost-Effectiveness of Old and New Technologies for Aneuploidy Screening | 237 | ||
| Key points | 237 | ||
| INTRODUCTION | 237 | ||
| ECONOMIC ANALYSES IN HEALTH CARE | 238 | ||
| COST-EFFECTIVENESS ANALYSIS OF THE PRENATAL DIAGNOSIS | 239 | ||
| Down Syndrome Screening and Diagnosis | 240 | ||
| ECONOMIC ANALYSES OF FIRST-TRIMESTER SCREENING FOR DOWN SYNDROME | 240 | ||
| Cost-Effectiveness of Contingent Screening | 242 | ||
| COST-EFFECTIVENESS OF CHROMOSOMAL MICROARRAY | 242 | ||
| COST-EFFECTIVENESS OF NONINVASIVE PRENATAL SCREENING | 243 | ||
| LIMITATIONS INHERENT ON ECONOMIC ANALYSES METHODOLOGY | 245 | ||
| SUMMARY | 246 | ||
| ACKNOWLEDGMENTS | 246 | ||
| REFERENCES | 246 | ||
| Modifying Risk of Aneuploidy with a Positive Cell-Free Fetal DNA Result | 249 | ||
| Key points | 249 | ||
| BACKGROUND | 249 | ||
| CELL-FREE FETAL DNA IN SCREENING FOR ANEUPLOIDY | 251 | ||
| FETAL DNA SCREENING | 252 | ||
| UNRECOGNIZED MULTIFETAL PREGNANCY | 252 | ||
| VANISHING TWIN SYNDROME | 253 | ||
| CONFINED PLACENTAL MOSAICISM | 253 | ||
| MATERNAL MOSAICISM | 254 | ||
| HISTORY OF MATERNAL ORGAN TRANSPLANT | 254 | ||
| OCCULT MATERNAL MALIGNANCY | 254 | ||
| SELECTING APPROPRIATE CANDIDATES FOR NONINVASIVE PRENATAL TESTING SCREENING | 255 | ||
| USE OF PRENATAL ULTRASOUND SCANS | 255 | ||
| THE FUTURE | 256 | ||
| SUMMARY | 257 | ||
| REFERENCES | 257 | ||
| Chromosomal Microarrays for the Prenatal Detection of Microdeletions and Microduplications | 261 | ||
| Key points | 261 | ||
| INTRODUCTION | 262 | ||
| BASIC INTRODUCTION TO MICROARRAY | 262 | ||
| Comparative Genomic Hybridization–Based Arrays | 262 | ||
| Single Nucleotide Polymorphism Arrays | 264 | ||
| Targeted Versus Whole-Genome Arrays | 265 | ||
| Benefits of Chromosomal Microarray Analysis Compared with Karyotype for Diagnostic Prenatal Diagnosis | 266 | ||
| Limitations of Chromosomal Microarray Analysis | 266 | ||
| MICRODELETIONS AND DUPLICATIONS SYNDROMES | 266 | ||
| Clinical Utility of Chromosomal Microarray Analysis in Prenatal Diagnosis | 266 | ||
| PRETEST AND POSTTEST GENETIC COUNSELING | 271 | ||
| NONINVASIVE PRENATAL TESTING | 271 | ||
| REFERENCES | 272 | ||
| Genetic Carrier Screening in the Twenty-first Century | 277 | ||
| Key points | 277 | ||
| INTRODUCTION | 277 | ||
| CYSTIC FIBROSIS | 278 | ||
| CARRIER SCREENING FOR JEWISH GENETIC DISORDERS | 280 | ||
| SPINAL MUSCULAR ATROPHY | 282 | ||
| EXPANDED CARRIER SCREENING PANELS | 284 | ||
| REFERENCES | 286 | ||
| Screening and Testing in Multiples | 289 | ||
| Key points | 289 | ||
| MULTIPLE PREGNANCIES | 289 | ||
| Risks of Anomalies | 290 | ||
| Counseling | 290 | ||
| Documentation and identification | 291 | ||
| Aneuploidy Screening | 292 | ||
| Diagnostic Procedures | 294 | ||
| Amniocentesis | 294 | ||
| Amniocentesis in monochorionic twins | 295 | ||
| Fetal loss rate | 295 | ||
| Chorionic villus sampling | 296 | ||
| Fetal loss rate | 297 | ||
| Microarrays | 298 | ||
| FETAL REDUCTION | 298 | ||
| CHORIONIC VILLUS SAMPLING AND FETAL REDUCTION | 298 | ||
| SUMMARY | 299 | ||
| REFERENCES | 300 | ||
| Inverted Pyramid of Care | 305 | ||
| Key points | 305 | ||
| INTRODUCTION | 305 | ||
| FIRST-TRIMESTER SCREENING FOR FETAL ANEUPLOIDY | 306 | ||
| First-Trimester Screening for Down Syndrome: Performance and Cost-Benefit | 307 | ||
| FIRST-TRIMESTER DETECTION OF FETAL STRUCTURAL ABNORMALITIES | 309 | ||
| Screening and Diagnosis of Structural Congenital Defects | 309 | ||
| First-Trimester Detection of Congenital Cardiac Defects | 309 | ||
| First-Trimester Detection of Open Neural Tube Defects | 310 | ||
| FIRST-TRIMESTER ASSESSMENT OF MULTIPLE GESTATIONS | 310 | ||
| FIRST-TRIMESTER PREDICTION OF MATERNAL-FETAL COMPLICATIONS | 311 | ||
| FUTURE APPLICATIONS OF FIRST-TRIMESTER SCREENING PROTOCOLS | 312 | ||
| FIRST-TRIMESTER ESTIMATION OF GESTATIONAL AGE | 312 | ||
| SUMMARY | 313 | ||
| REFERENCES | 313 | ||
| Aspirin for the Prevention of Preeclampsia and Intrauterine Growth Restriction | 319 | ||
| Key points | 319 | ||
| INTRODUCTION | 319 | ||
| Preeclampsia | 320 | ||
| Low-Dose Aspirin for the Prevention of Preeclampsia | 320 | ||
| Intrauterine Growth Restriction | 321 | ||
| Low-Dose Aspirin for the Prevention of Intrauterine Growth Restriction | 321 | ||
| Who Should Receive Low-Dose Aspirin in Early Gestation? | 321 | ||
| Low-Dose Aspirin Posology | 324 | ||
| Low Molecular Weight Heparin | 324 | ||
| SUMMARY | 325 | ||
| REFERENCES | 325 | ||
| First-, Second-, and Third-Trimester Screening for Preeclampsia and Intrauterine Growth Restriction | 331 | ||
| Key points | 331 | ||
| INTRODUCTION | 331 | ||
| PATHOPHYSIOLOGY | 332 | ||
| SCREENING TESTS FOR PREECLAMPSIA AND INTRAUTERINE GROWTH RESTRICTION | 332 | ||
| Clinical Factors | 333 | ||
| Placenta Perfusion Dysfunction Related | 334 | ||
| Uterine artery Doppler velocimetry | 334 | ||
| Three-dimensional placenta imaging | 335 | ||
| Placental quotient | 335 | ||
| Placental vascular indices | 336 | ||
| Two-dimensional placenta imaging | 336 | ||
| Maternal Serum Analytes | 337 | ||
| Fetal and placental endocrine dysfunction-related tests | 338 | ||
| Down syndrome markers | 338 | ||
| A disintegrin and metalloproteases | 338 | ||
| Placental protein 13 | 339 | ||
| Endothelial dysfunction-related tests | 339 | ||
| Circulating angiogenic factors | 339 | ||
| Endothelial cell adhesion molecules | 340 | ||
| Markers of insulin resistance | 340 | ||
| Genomics and Proteomics | 340 | ||
| Combination of Tests | 341 | ||
| Third-Trimester Serum and Ultrasound Markers for Prediction of Preeclampsia and Intrauterine Growth Restriction | 342 | ||
| Biochemical markers in the third trimester | 342 | ||
| Use of Doppler Ultrasonography for the Prediction of Preeclampsia and Intrauterine Growth Restriction in the Third Trimester | 343 | ||
| SUMMARY AND FUTURE PERSPECTIVES | 344 | ||
| REFERENCES | 344 | ||
| Maternal Serum Analytes as Predictors of Fetal Growth Restriction with Different Degrees of Placental Vascular Dysfunction | 353 | ||
| Key points | 353 | ||
| INTRODUCTION | 353 | ||
| FETAL GROWTH RESTRICTION | 355 | ||
| MATERNAL SERUM ANALYTES | 355 | ||
| Overview | 355 | ||
| First- and Second-Trimester Biomarkers | 356 | ||
| Human chorionic gonadotropin | 356 | ||
| Pregnancy-associated plasma protein-A | 356 | ||
| α-Fetoprotein | 357 | ||
| Unconjugated estriol | 357 | ||
| Inhibin A | 357 | ||
| Combinations of Biomarkers | 357 | ||
| PLACENTAL VASCULAR DYSFUNCTION | 358 | ||
| Overview | 358 | ||
| Uterine Artery Doppler | 358 | ||
| Umbilical Artery Doppler | 359 | ||
| Placental Pathology | 360 | ||
| SUMMARY | 362 | ||
| REFERENCES | 362 | ||
| Biophysical and Biochemical Screening for the Risk of Preterm Labor | 369 | ||
| Key points | 369 | ||
| CERVICAL LENGTH ASSESSMENT | 370 | ||
| Rationale | 370 | ||
| Sonographic Technique for Cervical Length Assessment | 372 | ||
| FETAL FIBRONECTIN | 374 | ||
| Rationale | 374 | ||
| Technique | 375 | ||
| GESTATIONAL AGE AND RISK-SPECIFIC APPROACH TO USING CERVICAL LENGTH AND FETAL FIBRONECTIN IN CLINICAL EVALUATION AND MANAGEMENT | 377 | ||
| Earlier than 24 Weeks’ Gestation | 378 | ||
| Cervical length and cerclage | 378 | ||
| Cervical length and progesterone | 379 | ||
| 24 to 34 Weeks’ Gestation | 379 | ||
| SUMMARY | 380 | ||
| REFERENCES | 381 | ||
| The Past, Present, and Future of Preimplantation Genetic Testing | 385 | ||
| Key points | 385 | ||
| INTRODUCTION | 385 | ||
| HISTORIC PERSPECTIVE AND DEFINITION | 386 | ||
| INDICATIONS FOR PREIMPLANTATION GENETIC DIAGNOSIS | 387 | ||
| TECHNIQUES | 389 | ||
| GENOMIC TESTING OF SINGLE GENE DISORDER | 390 | ||
| DIAGNOSTIC PLATFORMS FOR PREIMPLANTATION GENETIC SCREENING | 391 | ||
| DIAGNOSTIC ACCURACY | 391 | ||
| CONTROVERSIES SURROUNDING PREIMPLANTATION GENETIC TESTING | 393 | ||
| FUTURE OF PREIMPLANTATION GENETIC TESTING: POLICY AND ACCESS | 393 | ||
| SUMMARY | 394 | ||
| ACKNOWLEDGMENTS | 394 | ||
| REFERENCES | 395 | ||
| Screening for Open Neural Tube Defects | 401 | ||
| Key points | 401 | ||
| REFERENCES | 405 | ||
| Toxoplasmosis, Parvovirus, and Cytomegalovirus in Pregnancy | 407 | ||
| Key points | 407 | ||
| TOXOPLASMOSIS | 407 | ||
| DIAGNOSIS | 408 | ||
| TREATMENT | 409 | ||
| PREVENTION | 410 | ||
| PARVOVIRUS | 410 | ||
| DIAGNOSIS OF MATERNAL INFECTION | 411 | ||
| DIAGNOSIS OF FETAL INFECTION | 411 | ||
| MANAGEMENT OF PARVOVIRUS B19 INFECTION DURING PREGNANCY | 412 | ||
| NEONATAL OUTCOMES AFTER PARVOVIRUS INFECTION | 413 | ||
| CYTOMEGALOVIRUS | 413 | ||
| MATERNAL INFECTION | 414 | ||
| FETAL INFECTION | 414 | ||
| TREATMENT | 415 | ||
| SUMMARY | 415 | ||
| REFERENCES | 416 | ||
| Prenatal Screening for Thrombophilias | 421 | ||
| Key points | 421 | ||
| INTRODUCTION | 421 | ||
| INHERITED THROMBOPHILIAS | 422 | ||
| Factor V Leiden | 422 | ||
| Prothrombin Gene (G20210A) | 422 | ||
| Protein C | 425 | ||
| Protein S | 425 | ||
| Antithrombin III Deficiency | 425 | ||
| THROMBOPHILIA TESTING | 426 | ||
| ACQUIRED THROMBOPHILIAS | 426 | ||
| Antiphospholipid Antibody Syndrome | 426 | ||
| Antiphospholipid Antibodies | 427 | ||
| ADVERSE PREGNANCY OUTCOMES | 427 | ||
| PREGNANCY LOSS | 427 | ||
| Acquired Thrombophilia | 427 | ||
| Inherited Thrombophilia | 427 | ||
| PREECLAMPSIA | 428 | ||
| Acquired Thrombophilia | 428 | ||
| Inherited Thrombophilia | 428 | ||
| FETAL GROWTH RESTRICTION | 429 | ||
| Acquired Thrombophilia | 429 | ||
| Inherited Thrombophilia | 429 | ||
| PLACENTAL ABRUPTION | 429 | ||
| SUMMARY | 429 | ||
| REFERENCES | 430 | ||
| Sleep Disordered Breathing and Adverse Pregnancy Outcomes | 435 | ||
| Key points | 435 | ||
| INTRODUCTION | 435 | ||
| EPIDEMIOLOGY | 435 | ||
| RISK FACTORS | 436 | ||
| SCREENING IN PREGNANCY | 436 | ||
| DIAGNOSIS IN PREGNANCY | 437 | ||
| OBSTRUCTIVE SLEEP APNEA AND PREGNANCY MORBIDITY | 438 | ||
| Potential Mechanisms for Adverse Pregnancy Outcomes | 438 | ||
| Hypertensive Disorders of Pregnancy | 439 | ||
| Diabetes in Pregnancy | 440 | ||
| Severe Maternal Morbidity | 440 | ||
| Cesarean Delivery | 440 | ||
| Fetal Effects | 440 | ||
| Growth Abnormalities | 440 | ||
| Preterm Delivery | 441 | ||
| Miscarriages and Stillbirth | 441 | ||
| TREATMENT | 442 | ||
| SUMMARY | 442 | ||
| REFERENCES | 442 |