Prenatal Diagnosis
Evans Mark I. - Prenatal Diagnosis - 2006
CONTRIBUTORS XV
PREFACE XXI
SECTION ONE
GENETICS & REPRODUCTIVE RISKS / 1
CHAPTER 1 PRINCIPLES OF «CLASSIC» GENETICS Arie Drugan 3
CHAPTER 2 EPIDEMIOLOGY OF ANEUPLOIDY Howard S. Cuckle / Svetlana Arbuzova 19
CHAPTER 3 NEW GENETIC CONCEPTS Mark I. Evans / Yuval Yaron / Mark Paul Johnson / Ralph L. Kramer 33
CHAPTER 4 CHROMOSOMAL ABERRATIONS Shay Ben Shahar / Avi Orr-Urtreger / Yuval Yaron 41
CHAPTER 5 MENDELIAN GENETICS IN PRENATAL DIAGNOSIS Bruce R. Korf 51
CHAPTER 6 SYNDROME: AN APPROACH TO FETAL DYSMORPHOLOGY The-Hung Bui 57
CHAPTER 7 GENES AND DEVELOPMENT D. Randall Armant 63
CHAPTER 8 PRENATAL GENETIC COUNSELING Heather Shane Michaels / Shivani B. Nazareth / Lorien Tambini vii 71
CHAPTER 9 PRINCIPLES OF TERATOLOGY 79 Robert L. Brent / Lynda Fawcett / David A. Beckman
CHAPTER 1 0 DRUGS 113 Pamela Lewis-Matia / Mitchell Dombrowski
CHAPTER 1 1 THE EFFECTS OF MATERNAL DRINKING DURING PREGNANCY 123 Ernest L. Abel / Robert J. Sokol / John H. Hannigan / Beth A. Nordstrom
CHAPTER 1 2 CHARACTERIZING THE EFFECT OF ENVIRONMENTAL AND OCCUPATIONAL EXPOSURES ON REPRODUCTION AND DEVELOPMENT 131 Donald R. Mattison
CHAPTER 1 3 BACTERIAL INFECTIONS AND PREGNANCY 149 Charles Weber / Christine Kovac
CHAPTER 1 4 VIRAL AGENTS AND REPRODUCTIVE RISKS 155 Jan E. Dickinson / Bernard Gonik
CHAPTER 1 5 EXPOSURE TO IONIZING RADIATION DURING PREGNANCY 169 Daniela Koch / Arie Drugan
CHAPTER 1 6 CHEMOTHERAPY IN PREGNANCY 177 Ralph L. Kramer / Baruch Feldman / Yuval Yaron / Mark I. Evans SECTION TWO ULTRASOUND DIAGNOSIS & SCREENING /185
CHAPTER 1 7 OVERVIEW OF THE COMPREHENSIVE ULTRASOUND EXAMINATION: AN APPROACH TO DIAGNOSIS AND MANAGEMENT OF FETAL ANOMALIES 187 Edith D. Gurewitsch / Frank A. Chervenak
CHAPTER 1 8 IMAGING THE FETAL BRAIN 199 Ana Monteagudo / Ilan E. Timor-Tritsch
CHAPTER 1 9 HEART AND VASCULAR MALFORMATIONS 227 Joshua A. Copel / Charles S. Kleinman
ix
239
257
263
277
289
309
331
343
349
357
365
383
NORMAL AND ABNORMAL FINDINGS OF THE FETAL ABDOMEN AND ANTERIOR WALL
Wayne H. Persutte / John C. Bobbins
GENITO-URINARY TRACT ABNORMALITIES
Marjorie C. Treadwell / Mark Paul Johnson
SKELETAL DYSPLASIA
Jana K. Silva / Lawrence D. Platt / Deborah Krakow
BIOCHEMICAL SCREENING
Mark I. Evans / Robert S. Galen / Arie Drugan
FIRST TRIMESTER ULTRASOUND SCREENING WITH NUCHAL TRANSLUCENCY
Jon Hyett / Kypros Nicolaides
SECOND TRIMESTER SONOGRAPHIC MARKERS FOR ANEUPLOIDY
Bryan Bromley / Beryl R. Benacerraf
COLOR DOPPLER IN CONGENITAL DEFECTS
Asim Kurjak / Sanja Kupesic
DOPPLER AND FETAL ABNORMALITIES IN THE SECOND TRIMESTER
Brian Trudinger / Jill Ablett
ULTRASOUND IN MULTIPLE GESTATION
Yaron Zalel / Zvi Leibovitz
THREE-DIMENSIONAL ULTRASOUND IN PRENATAL DIAGNOSIS
Donna D. Johnson / Dolores H. Pretorius
THREE-DIMENSIONAL FETAL NEUROSCAN
Ilan E. Timor-Tritsch / Ana Monteagudo
COMPUTER AND ULTRASOUND
Sean C. Blackwell / Ivan Zador / Ryan Blackwell
CHAPTER 32 FETAL AGE DETERMINATION AND GROWTH ASSESSMENT: THEIR ROLES IN PRENATAL DIAGNOSIS 387 Russell L. Deter
CHAPTER 33 ULTRASOUND EVALUATION OF THE PLACENTA 407 Byron Calhoun SECTION THREE PROCEDURES/413
CHAPTER 34 AMNIOCENTESIS 415 Arie Drugan / Mark I. Evans
CHAPTER 35 EARLY AMNIOCENTESIS: RISK ASSESSMENT 423 R. Douglas Wilson
CHAPTER 36 CHORIONIC VILLUS SAMPLING 433 Mark I. Evans / Guy Rosner / Yuval Yaron / Ronald J. Wapner
CHAPTER 37 CORDOCENTESIS 443 Carl P. Weiner
CHAPTER 38 TISSUE BIOPSIES 449 Mark I. Evans / Wolfgang Holzgreve / Eric L. Krivchenia / Eric P. Hoffman
CHAPTER 39 FETAL SKIN SAMPLING AND PRENATAL DIAGNOSIS OF GENODERMATOSES 455 Anthony R. Gregg / Sherman Elias
CHAPTER 40 OPERATIVE FETOSCOPY 459 Jan Deprest / Dominique van Schoubroeck / Gerard Barki / Eduardo Gratacos SECTION FOUR LABORATORY DIAGNOSTICS / 473
CHAPTER 41 CYTOGENETICS AND MOLECULAR CYTOGENETICS 475 Alan E. Donnenfeld / Allen N. Lamb
CONTENTS xi
CHAPTER 4 2 BIOCHEMICAL GENETICS Yoav Ben-Yoseph 485
CHAPTER 43 MOLECULAR DIAGNOSTICS FOR PRENATAL DIAGNOSIS Laura S. Martin / Mark I. Evans 493
CHAPTER 44 MOLECULAR SCREENING Roderick F. Hume, Jr. 501
CHAPTER 4 5 PRENATAL DIAGNOSIS USING FETAL CELLS FROM MATERNAL BLOOD Sinhue Hahn / Wolfgang Holzgreve 505
CHAPTER 46 CLINICAL PROTEOMICS Chris Shimizu / Kevin P. Rosenblatt / Peter K. Bryant-Greenwood SECTION FIVE MANAGEMENT OF PROBLEMS / 521 513
CHAPTER 4 7 PSYCHOLOGICAL REACTION TO PRENATAL DIAGNOSIS AND LOSS Natalie Gellman 523
CHAPTER 48 COUNSELING FOR ABNORMALITIES Anne Greb / Jane Wegner 529
CHAPTER 49 TERMINATION OF PREGNANCY Rony Diukman / James D. Goldberg 537
CHAPTER 5 0 THE FETAL AUTOPSY Faisal Qureshi / Suzanne M. Jacques 549
CHAPTER 5 1 REDUCTION IN MULTIPLE PREGNANCIES Mark I. Evans / Doina Ciorica / David W. Britt / John C. Fletcher 561
CHAPTER 5 2 SELECTIVE TERMINATION Mark I. Evans / Charles H. Rodeck / Mark Paul Johnson / Richard L. Berkowitz 571
CHAPTER 53 THE OBSTETRICAL MANAGEMENT OF FETAL ANOMALIES 579 Peter G. Pryde
CHAPTER 54 ASSESSMENT AND MANAGEMENT OF NEONATES WITH CONGENITAL ANOMALIES 595 Mary P. Bedard SECTION SIX FETAL THERAPY / 603
CHAPTER 55 FETAL SHUNT PROCEDURES 605 Mark Paul Johnson
CHAPTER 56 THE EVOLUTION OF FETAL SURGERY FOR TREATMENT OF CONGENITAL DIAPHRAGMATIC HERNIA 617 George B. Mychaliska / Michael R. Harrison
CHAPTER 57 FETAL SURGERY-OPEN: CONGENITAL CYSTIC ADENOMATOID MALFORMATION 627 Darrell L. Cass / N. Scott Adzick
CHAPTER 58 FETAL PHARMACOLOGIC THERAPY FOR MENDELIAN DISORDERS 633 Roderick F. Hume, Jr.
CHAPTER 59 FOLIC ACID AND PREVENTION OF NEURAL TUBE DEFECTS 641 Elisa Llurba / Ellen J. Lansberger / Mark I. Evans
CHAPTER 60 EVALUATION OF THE FETAL CARDIOVASCULAR SYSTEM 653 Jack Rychik
CHAPTER 61 PRENATAL CARDIAC THERAPY 671 Charles S. Kleinman
CHAPTER 62 FETAL GENETIC THERAPY-SOMATIC 683 Yuval Yaron / Avi Orr-Urtreger
CHAPTER 63 FETAL GENETIC THERAPY-STEM CELLS 691 Heung Bae Kim / Amen F. Shaaban / Alan W. Flake
SECTION SEVEN
ETHICAL, LEGAL, AND SOCIAL ISSUES / 699
CHAPTER 6 4 PSYCHOSOCIAL ISSUES IN PRENATAL DIAGNOSIS David W. Britt 701
CHAPTER 6 5 ETHICS AND PRENATAL DIAGNOSIS: CROSS-CULTURAL CONSIDERATIONS John C. Fletcher 707
CHAPTER 6 6 AN ETHICAL FRAMEWORK FOR FETAL THERAPY Frank A. Chervenak / Laurence B. McCullough 721
CHAPTER 6 7 LEGAL ISSUES IN GENETIC DIAGNOSIS AND COUNSELING Charles W. Fisher / Carol Tarnowsky / Pamela A. Boland 727
CHAPTER 6 8 POLITICS AND GENETIC REPRODUCTIVE RISKS 741
Ruth S. Hanft
INDEX
747
PREFACE XXI
SECTION ONE
GENETICS & REPRODUCTIVE RISKS / 1
CHAPTER 1 PRINCIPLES OF «CLASSIC» GENETICS Arie Drugan 3
CHAPTER 2 EPIDEMIOLOGY OF ANEUPLOIDY Howard S. Cuckle / Svetlana Arbuzova 19
CHAPTER 3 NEW GENETIC CONCEPTS Mark I. Evans / Yuval Yaron / Mark Paul Johnson / Ralph L. Kramer 33
CHAPTER 4 CHROMOSOMAL ABERRATIONS Shay Ben Shahar / Avi Orr-Urtreger / Yuval Yaron 41
CHAPTER 5 MENDELIAN GENETICS IN PRENATAL DIAGNOSIS Bruce R. Korf 51
CHAPTER 6 SYNDROME: AN APPROACH TO FETAL DYSMORPHOLOGY The-Hung Bui 57
CHAPTER 7 GENES AND DEVELOPMENT D. Randall Armant 63
CHAPTER 8 PRENATAL GENETIC COUNSELING Heather Shane Michaels / Shivani B. Nazareth / Lorien Tambini vii 71
CHAPTER 9 PRINCIPLES OF TERATOLOGY 79 Robert L. Brent / Lynda Fawcett / David A. Beckman
CHAPTER 1 0 DRUGS 113 Pamela Lewis-Matia / Mitchell Dombrowski
CHAPTER 1 1 THE EFFECTS OF MATERNAL DRINKING DURING PREGNANCY 123 Ernest L. Abel / Robert J. Sokol / John H. Hannigan / Beth A. Nordstrom
CHAPTER 1 2 CHARACTERIZING THE EFFECT OF ENVIRONMENTAL AND OCCUPATIONAL EXPOSURES ON REPRODUCTION AND DEVELOPMENT 131 Donald R. Mattison
CHAPTER 1 3 BACTERIAL INFECTIONS AND PREGNANCY 149 Charles Weber / Christine Kovac
CHAPTER 1 4 VIRAL AGENTS AND REPRODUCTIVE RISKS 155 Jan E. Dickinson / Bernard Gonik
CHAPTER 1 5 EXPOSURE TO IONIZING RADIATION DURING PREGNANCY 169 Daniela Koch / Arie Drugan
CHAPTER 1 6 CHEMOTHERAPY IN PREGNANCY 177 Ralph L. Kramer / Baruch Feldman / Yuval Yaron / Mark I. Evans SECTION TWO ULTRASOUND DIAGNOSIS & SCREENING /185
CHAPTER 1 7 OVERVIEW OF THE COMPREHENSIVE ULTRASOUND EXAMINATION: AN APPROACH TO DIAGNOSIS AND MANAGEMENT OF FETAL ANOMALIES 187 Edith D. Gurewitsch / Frank A. Chervenak
CHAPTER 1 8 IMAGING THE FETAL BRAIN 199 Ana Monteagudo / Ilan E. Timor-Tritsch
CHAPTER 1 9 HEART AND VASCULAR MALFORMATIONS 227 Joshua A. Copel / Charles S. Kleinman
ix
239
257
263
277
289
309
331
343
349
357
365
383
NORMAL AND ABNORMAL FINDINGS OF THE FETAL ABDOMEN AND ANTERIOR WALL
Wayne H. Persutte / John C. Bobbins
GENITO-URINARY TRACT ABNORMALITIES
Marjorie C. Treadwell / Mark Paul Johnson
SKELETAL DYSPLASIA
Jana K. Silva / Lawrence D. Platt / Deborah Krakow
BIOCHEMICAL SCREENING
Mark I. Evans / Robert S. Galen / Arie Drugan
FIRST TRIMESTER ULTRASOUND SCREENING WITH NUCHAL TRANSLUCENCY
Jon Hyett / Kypros Nicolaides
SECOND TRIMESTER SONOGRAPHIC MARKERS FOR ANEUPLOIDY
Bryan Bromley / Beryl R. Benacerraf
COLOR DOPPLER IN CONGENITAL DEFECTS
Asim Kurjak / Sanja Kupesic
DOPPLER AND FETAL ABNORMALITIES IN THE SECOND TRIMESTER
Brian Trudinger / Jill Ablett
ULTRASOUND IN MULTIPLE GESTATION
Yaron Zalel / Zvi Leibovitz
THREE-DIMENSIONAL ULTRASOUND IN PRENATAL DIAGNOSIS
Donna D. Johnson / Dolores H. Pretorius
THREE-DIMENSIONAL FETAL NEUROSCAN
Ilan E. Timor-Tritsch / Ana Monteagudo
COMPUTER AND ULTRASOUND
Sean C. Blackwell / Ivan Zador / Ryan Blackwell
CHAPTER 32 FETAL AGE DETERMINATION AND GROWTH ASSESSMENT: THEIR ROLES IN PRENATAL DIAGNOSIS 387 Russell L. Deter
CHAPTER 33 ULTRASOUND EVALUATION OF THE PLACENTA 407 Byron Calhoun SECTION THREE PROCEDURES/413
CHAPTER 34 AMNIOCENTESIS 415 Arie Drugan / Mark I. Evans
CHAPTER 35 EARLY AMNIOCENTESIS: RISK ASSESSMENT 423 R. Douglas Wilson
CHAPTER 36 CHORIONIC VILLUS SAMPLING 433 Mark I. Evans / Guy Rosner / Yuval Yaron / Ronald J. Wapner
CHAPTER 37 CORDOCENTESIS 443 Carl P. Weiner
CHAPTER 38 TISSUE BIOPSIES 449 Mark I. Evans / Wolfgang Holzgreve / Eric L. Krivchenia / Eric P. Hoffman
CHAPTER 39 FETAL SKIN SAMPLING AND PRENATAL DIAGNOSIS OF GENODERMATOSES 455 Anthony R. Gregg / Sherman Elias
CHAPTER 40 OPERATIVE FETOSCOPY 459 Jan Deprest / Dominique van Schoubroeck / Gerard Barki / Eduardo Gratacos SECTION FOUR LABORATORY DIAGNOSTICS / 473
CHAPTER 41 CYTOGENETICS AND MOLECULAR CYTOGENETICS 475 Alan E. Donnenfeld / Allen N. Lamb
CONTENTS xi
CHAPTER 4 2 BIOCHEMICAL GENETICS Yoav Ben-Yoseph 485
CHAPTER 43 MOLECULAR DIAGNOSTICS FOR PRENATAL DIAGNOSIS Laura S. Martin / Mark I. Evans 493
CHAPTER 44 MOLECULAR SCREENING Roderick F. Hume, Jr. 501
CHAPTER 4 5 PRENATAL DIAGNOSIS USING FETAL CELLS FROM MATERNAL BLOOD Sinhue Hahn / Wolfgang Holzgreve 505
CHAPTER 46 CLINICAL PROTEOMICS Chris Shimizu / Kevin P. Rosenblatt / Peter K. Bryant-Greenwood SECTION FIVE MANAGEMENT OF PROBLEMS / 521 513
CHAPTER 4 7 PSYCHOLOGICAL REACTION TO PRENATAL DIAGNOSIS AND LOSS Natalie Gellman 523
CHAPTER 48 COUNSELING FOR ABNORMALITIES Anne Greb / Jane Wegner 529
CHAPTER 49 TERMINATION OF PREGNANCY Rony Diukman / James D. Goldberg 537
CHAPTER 5 0 THE FETAL AUTOPSY Faisal Qureshi / Suzanne M. Jacques 549
CHAPTER 5 1 REDUCTION IN MULTIPLE PREGNANCIES Mark I. Evans / Doina Ciorica / David W. Britt / John C. Fletcher 561
CHAPTER 5 2 SELECTIVE TERMINATION Mark I. Evans / Charles H. Rodeck / Mark Paul Johnson / Richard L. Berkowitz 571
CHAPTER 53 THE OBSTETRICAL MANAGEMENT OF FETAL ANOMALIES 579 Peter G. Pryde
CHAPTER 54 ASSESSMENT AND MANAGEMENT OF NEONATES WITH CONGENITAL ANOMALIES 595 Mary P. Bedard SECTION SIX FETAL THERAPY / 603
CHAPTER 55 FETAL SHUNT PROCEDURES 605 Mark Paul Johnson
CHAPTER 56 THE EVOLUTION OF FETAL SURGERY FOR TREATMENT OF CONGENITAL DIAPHRAGMATIC HERNIA 617 George B. Mychaliska / Michael R. Harrison
CHAPTER 57 FETAL SURGERY-OPEN: CONGENITAL CYSTIC ADENOMATOID MALFORMATION 627 Darrell L. Cass / N. Scott Adzick
CHAPTER 58 FETAL PHARMACOLOGIC THERAPY FOR MENDELIAN DISORDERS 633 Roderick F. Hume, Jr.
CHAPTER 59 FOLIC ACID AND PREVENTION OF NEURAL TUBE DEFECTS 641 Elisa Llurba / Ellen J. Lansberger / Mark I. Evans
CHAPTER 60 EVALUATION OF THE FETAL CARDIOVASCULAR SYSTEM 653 Jack Rychik
CHAPTER 61 PRENATAL CARDIAC THERAPY 671 Charles S. Kleinman
CHAPTER 62 FETAL GENETIC THERAPY-SOMATIC 683 Yuval Yaron / Avi Orr-Urtreger
CHAPTER 63 FETAL GENETIC THERAPY-STEM CELLS 691 Heung Bae Kim / Amen F. Shaaban / Alan W. Flake
SECTION SEVEN
ETHICAL, LEGAL, AND SOCIAL ISSUES / 699
CHAPTER 6 4 PSYCHOSOCIAL ISSUES IN PRENATAL DIAGNOSIS David W. Britt 701
CHAPTER 6 5 ETHICS AND PRENATAL DIAGNOSIS: CROSS-CULTURAL CONSIDERATIONS John C. Fletcher 707
CHAPTER 6 6 AN ETHICAL FRAMEWORK FOR FETAL THERAPY Frank A. Chervenak / Laurence B. McCullough 721
CHAPTER 6 7 LEGAL ISSUES IN GENETIC DIAGNOSIS AND COUNSELING Charles W. Fisher / Carol Tarnowsky / Pamela A. Boland 727
CHAPTER 6 8 POLITICS AND GENETIC REPRODUCTIVE RISKS 741
Ruth S. Hanft
INDEX
747