Prenatal Medicine

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ISBN: 9780824728441 | 0824728440
Cover: Hardcover
Copyright: 6/13/2006

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VU Univ., Amsterdam, The Netherlands. Provides a succinct overview of prenatal genetic diagnosis and related topics. Topics include prenatal screening, twin-to-twin transfusion syndrome, fetoscopic instrumentation and techniques, open fetal surgery, termination of pregnancy, ethics and legislation, and more. For clinicians. DNLM: Prenatal Care.

Foreword

Sherman Elias

Preface

vii

Contributors

xix

SECTION I: PRENATAL SCREENING

First Trimester Serum Screening

(20)

Kevin Spencer

Introduction

(3)

Free β-HCG

(2)

Pregnancy-Associated Plasma Protein A

(1)

Combined Modeled Detection Rates

(2)

Modeled and Achievable Performance in Studies of Maternal Serum Biochemistry with NT

(1)

Sample Collection Conditions

(1)

Covariables

(4)

Detection Rate and False-Positive Rate by Maternal Age

(1)

Adverse Outcome

(1)

Potential Future Developments

(1)

References

(6)

Maternal Serum Screening for Down Syndrome

(12)

Francoise Muller

Marc Dommergues

Introduction

(1)

Principle

(1)

Mathematical Basis of the Calculation of Down Syndrome Risk

(2)

Factors Affecting MSM Levels

(1)

Factors Influencing Risk Calculation

(1)

Serum Markers and Screening for Other Anomalies

(1)

Quality Control and Screening Policies

(1)

The Example of a National Screening Policy

(1)

Second-Trimester MSM Results

(1)

Current Problems in Down Syndrome Screening

(1)

Conclusion

(1)

References

(3)

Nuchal Translucency Screening

(22)

Caterina M. Bilardo

Rosalinde J. M. Snijders

Introduction

(1)

Methods of Screening

(1)

Studies on NT Screening

(6)

Increased NT in Chromosomally Normal Pregnancies

(1)

Increased NT and Pregnancy Outcome

(1)

Increased NT and Cardiac Defects

(6)

Conclusion

(1)

References

(8)

Nasal Bone in Screening for Trisomy 21

(12)

Simona Cicero

J. D. Sonek

K. H. Nicolaides

Development of the Nasal Bones

(1)

Radiologic Evidence of Nasal Hypoplasia in Trisomy 21

(1)

Ultrasound Evidence of Nasal Hypoplasia in Trisomy 21

(4)

Examination of the Nasal Bone in Screening for Trisomy 21

(3)

References

(4)

Screening for Neural Tube Defects: Ultrasound and Serum Markers

(12)

Lee P. Shulman

Introduction

(1)

Classification of NTDs

(2)

Alpha-Fetoprotein and Fetal NTDs

(4)

Ultrasonography to Detect Fetal NTDs

(3)

Conclusions

(1)

References

(3)

Antenatal Screening for Down Syndrome Using the Integrated Test

(24)

N. J. Wald

A. R. Rudnicka

Introduction

(1)

General Principles

(1)

Estimation of Screening Performance

(6)

Screening Performance of the Integrated Test Compared with Other Tests

(4)

Financial Costs

(1)

Sequential Screening Policies

(1)

Possible Improvements in Screening Performance with the Addition of an Ultrasound Fetal Nasal Bone Examination

(1)

The Integrated Test in Twin Pregnancies

(1)

Results from Other Studies

(1)

Standardizing Screening Performance to About 17 Weeks of Pregnancy

(1)

Implementation of the Integrated Test

(1)

Conclusions

(2)

Glossary

(1)

References

(2)

Appendix

101

(2)

Genetic Ultrasound Scan---Second Trimester

103

(18)

Annegret Geipel

Ulrich Gembruch

Introduction

103

(1)

Trisomy 21 (Down Syndrome)

104

(5)

Trisomy 18 (Edward Syndrome)

109

(1)

Trisomy 13 (Patau Syndrome)

110

(1)

Triploidy

111

(2)

Turner Syndrome

113

(1)

References

113

(8)

Fetal Cells in Maternal Blood: Diagnostic and Therapeutic Implications

121

(16)

May Lee Tjoa

Kirby L. Johnson

Diana W. Bianchi

Introduction

121

(1)

Fetal Cells in Maternal Blood for Noninvasive Prenatal Diagnosis

122

(6)

Fetal Cell Microchimerism

128

(3)

Summary

131

(1)

References

131

(6)

Fetal DNA and mRNA in Maternal Plasma

137

(18)

Attie T. J. I. Go

John M. G. van Vugt

Cees B. M. Oudejans

Fetal Nucleic Acids in Maternal Circulation

137

(1)

Fetal DNA

138

(9)

mRNA of Placental Origin in Maternal Plasma

147

(2)

Possible Clinical Applications

149

(1)

References

150

(5)

Ethnic Population Screening

155

(14)

Lee P. Shulman

Prenatal Screening

156

(8)

Counseling for Screening

164

(2)

References

166

(3)

Pathophysiology of Increased Nuchal Translucency

169

(20)

Monique C. Haak

Mireille N. Bekker

John M. G. van Vugt

Introduction

169

(2)

Methods

171

(1)

Cardiac Malformations and Dysfunction

171

(4)

Alterations in the Extracellular Matrix

175

(2)

Studies on Morphology of the Fetal Neck

177

(3)

Miscellaneous Theories

180

(1)

Comment

181

(1)

References

182

(7)

SECTION II: PRENATAL DIAGNOSIS

Invasive Prenatal Diagnostic Techniques

189

(16)

James D. Goldberg

Thomas J. Musci

Amniocentesis

189

(2)

Early Amniocentesis

191

(1)

Chorionic Villus Sampling

192

(3)

Percutaneous Umbilical Blood Sampling

195

(3)

Fetal Tissue Biopsy

198

(1)

References

199

(6)

Prenatal Diagnosis of Multifetal Pregnancies

205

(14)

Lee P. Shulman

Leeber Cohen

Introduction

205

(1)

Multifetal Pregnancies

205

(3)

Prenatal Screening

208

(3)

Prenatal Diagnosis

211

(5)

Conclusions

216

(1)

References

216

(3)

Embryoscopy in the First Trimester of Pregnancy

219

(18)

T. Philipp

Embryoscopy

219

(1)

Technique of Transcervical Embryoscopy in Cases of Early Spontaneous Abortions (Missed Abortions)

220

(3)

Definitions Used in the Study of Abortions

223

(1)

Common Morphological Defects in Early Abortion Specimens Diagnosed Embryoscopically

223

(7)

Etiology of Developmental Defects in Early Missed Abortions

230

(2)

Clinical Significance of a Detailed Morphological and Cytogenetic Evaluation of Early Spontaneous Abortion

232

(1)

References

233

(4)

Prenatal Diagnosis of Chromosome Abnormalities

237

(36)

Kamlesh Madan

Introduction

237

(1)

Normal Chromosomes and Variants

238

(1)

Chromosome Abnormalities

239

(15)

Tissue Samples

254

(2)

Chromosome Findings in the Various Indication Groups

256

(4)

Problems of Interpretation of Results and Other Dilemmas

260

(6)

References

266

(7)

Prenatal DNA Testing

273

(10)

Eugene Pergament

Introduction

273

(1)

Sources of Patients

273

(1)

The First Step: Confirming the Diagnosis

274

(1)

The Second Step: Learning More About the Disease and Determining Whether Prenatal Diagnosis Is Possible

274

(1)

The Third Step: When and How of Prenatal DNA Testing

274

(1)

The Fourth Step: An Overview of DNA Analysis

275

(2)

Prenatal DNA Diagnosis: Three Examples

277

(4)

A Final Note of Caution

281

(1)

References

281

(2)

Preimplantation Genetic Diagnosis

283

(34)

Norman Ginsberg

Introduction

283

(1)

Indications

284

(1)

Preimplantation Diagnosis (PGD) and In Vitro Fertilization--Embryo Transfer

284

(3)

Methods

287

(2)

Problems with Single Cell Analysis

289

(3)

Embryo Mosaicism

292

(1)

Translocation Analysis

293

(1)

Selected Disorders

294

(9)

Infertility and Preimplantation Genetic Diagnosis

303

(5)

Future Considerations

308

(1)

Conclusion

309

(1)

References

309

(8)

Fetal Anomaly Scan

317

(36)

Melanie A. J. Engels

John M. G. van Vugt

Introduction

317

(3)

Fetal Structural Abnormalities

320

(1)

Central Nervous System Abnormalities

320

(6)

Spinal Abnormalities

326

(1)

Cardiovascular System Abnormalities

326

(4)

Thoracic Abnormalities

330

(2)

Abdominal and Abdominal Wall Abnormalities

332

(1)

Abdominal Abnormalities

333

(2)

Abdominal Wall Abnormalities

335

(2)

Urinary Tract Abnormalities

337

(4)

Facial Abnormalities

341

(2)

Skeletal Abnormalities

343

(4)

Abnormalities of the Placenta, Membranes, and Umbilical Cord

347

(2)

References

349

(4)

The Role of Three-Dimensional Ultrasound in Prenatal Diagnosis

353

(16)

Leeber Cohen

Introduction

353

(2)

Congenital Uterine Anomalies

355

(2)

First Trimester Fetus

357

(8)

Summary

365

(1)

References

366

(3)

Fetal Magnetic Resonance Imaging

369

(16)

Deborah Levine

Introduction

369

(1)

Safety of MRI in Pregnancy

370

(1)

Conditions Unique to Pregnancy that May Require MRI

370

(2)

Fetal Imaging Techniques

372

(2)

Fetal Anomalies

374

(6)

Summary

380

(1)

References

380

(5)

SECTION III: PRENATAL THERAPY

Prenatal Therapy---Prevention of Labor

385

(14)

Susan E. Gerber

Etiology of Preterm Birth

385

(1)

Primary Prevention

386

(4)

Secondary Prevention

390

(4)

Conclusion

394

(1)

References

394

(5)

Pharmacological Therapy

399

(20)

Jay J. Bringman

Owen P. Phillips

Introduction

399

(1)

Prerequisites for Fetal Therapy

399

(1)

Genetic Disorders Affecting the Fetus

400

(5)

Medical Disorders of the Fetus

405

(7)

Conclusion

412

(1)

References

412

(7)

Intrauterine Intravascular Treatment

419

(12)

Phebe Nanine Adama van Scheltema

Dick Oepkes

Background

419

(1)

When to Transfuse: Monitoring a Pregnancy at Risk

419

(2)

The Technique

421

(3)

Top-Up vs. Exchange Transfusion

424

(1)

Timing of Subsequent Transfusions

424

(1)

Complications

424

(1)

Posttransfusion Care

425

(1)

Outcome of Treatment

425

(1)

Transfusion in Other Diseases

426

(1)

References

427

(4)

Gastroschisis

431

(16)

Julien Saada

Jean-Francois Oury

Edith Vuillard

Pascal De Lagausie

Joe Bruner

Jean Guibourdenche

Ghislaine Sterkers

Dominique Luton

General Introduction

431

(1)

Prevalence and Epidemiology

432

(1)

Embryology and Pathogenesis

432

(1)

Bowel Lesions, Inflammatory Process, and Amniotic Digestive Compounds in Gastroschisis

433

(2)

Prenatal Diagnosis

435

(1)

Monitoring

436

(2)

Fetal Therapy: Amnioexchange and Amnioinfusion

438

(1)

Delivery

439

(1)

Postnatal Care

439

(1)

Prognosis

440

(1)

References

440

(7)

Twin-to-Twin Transfusion Syndrome

447

(26)

Liesbeth Lewi

Jan Deprest

W. J. B. Dennes

N. M. Fisk

Twins and Twins: Different Types of Twinning

447

(2)

TTTS: When the Intertwin Transfusion Becomes Unbalanced

449

(1)

Pathophysiology of TTTS: Vascular Anastomoses and Hemodynamic/Hormonal Factors

450

(2)

Prediction of TTTS: Identification of the Monochorionic Twins at Highest Risk

452

(3)

Staging of TTTS: Reflection of the Variable Presentations of TTTS and Outcome

455

(1)

Treatment of TTTS: The Past, Present, and Future

456

(10)

Conclusion

466

(1)

References

467

(6)

Fetoscopic Instrumentation and Techniques

473

(20)

Jan Deprest

Liesbeth Lewi

Jacques Jani

Dominique van Schoubroeck

Denis Gallot

Federico Spelzini

Marc Vandevelde

Roland Devlieger

Gerard Barki

Sabine Bueschle

Eduardo Gratacos

Introduction

473

(1)

Instrumentation and Technique for Operative Fetoscopy

474

(6)

``Obstetrical Endoscopy'': Fetoscopic Surgery on the Placenta, Cord, and Membranes

480

(2)

Fetoscopic Cord Obliteration

482

(3)

Amniotic Band Syndrome

485

(1)

Fetoscopic Surgery for Congenital Diaphragmatic Hernia

486

(2)

References

488

(5)

Open Fetal Surgery

493

(16)

Michael W. Bebbington

Mark P. Johnson

R. Douglas Wilson

N. Scott Adzick

Introduction

493

(1)

Perioperative Management of Fetal Surgical Patients

494

(12)

Maternal Risks of Maternal--Fetal Surgery

506

(1)

The Future

506

(1)

References

507

(2)

Termination of Pregnancy

509

(12)

Oi Shan Tang

Pak Chung Ho

Introduction

509

(1)

Methods of Abortion in the First Trimester

510

(2)

Methods of Abortion in the Second Trimester

512

(4)

The Choice of Abortion Method for Fetal Abnormalities

516

(1)

Conclusion

517

(1)

References

517

(4)

Fetal Reduction

521

(14)

Mark I. Evans

David W. Britt

Doina Ciorica

John C. Fletcher

Introduction

521

(2)

Demographics

523

(1)

Clinical Uses

524

(1)

Results

525

(4)

Societal Issues

529

(2)

Summary

531

(1)

References

532

(3)

Gene Therapy

535

(30)

Anna L. David

Charles H. Rodeck

Introduction

535

(1)

The Candidate Diseases

535

(4)

Vectors for Fetal Gene Therapy

539

(6)

Application of Gene Therapy to the Fetus

545

(1)

Fetal Gene Therapy Studies

546

(8)

Stem Cell Fetal Gene Therapy

554

(1)

Ethical and Safety Issues

555

(1)

Conclusions

556

(1)

References

556

(9)

SECTION IV: ETHICS AND LEGISLATION

Maternal/Fetal Conflict: A Legal and Ethical Conundrum

565

(10)

Nanette Elster

Introduction

565

(1)

Political Background

565

(2)

Legal Analysis

567

(1)

Cesarean Section/Blood Transfusion

567

(2)

Conduct During Pregnancy

569

(2)

Ethical Analysis

571

(1)

Conclusion

572

(1)

References

573

(2)

Ethical Issues

575

(30)

Guido de Wert

Wybo Dondorp

Introduction

575

(1)

Prenatal Diagnosis

575

(4)

Preimplantation Genetic Diagnosis

579

(4)

Prenatal Screening

583

(12)

Fetal Therapy

595

(2)

Conclusions

597

(1)

References

597

(8)

Index

605

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Prenatal Medicine

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