Perinatal Genetics (eBook)

Diagnosis and Treatment

Norma H. Hatcher, Ian H. Porter, Ann M. Willey (Herausgeber)

eBook Download: PDF

2013 | 1. Auflage
320 Seiten
Elsevier Science (Verlag)
978-1-4832-6448-6 (ISBN)

Infos

Perinatal Genetics: Diagnosis and Treatment brings together the proceedings of the 15 Annual New York State Health Department Birth Defects Symposium held on September 30-October 1, 1984 in Albany, New York. The symposium provided a forum for clarifying and rationalizing certain aspects of diagnosis and treatment of perinatal genetic birth defects such as fragile X syndrome, phenylketonuria, and hypothyroidism. Comprised of 17 chapters, this book begins with an epidemiological review of very early pregnancy loss, focusing on fertilization and implantation; the probability of loss between fertilization and implantation (on about the sixth day), and between implantation and the 14th day (the first day of the expected next period in a non-pregnant woman); and the contribution of chromosomal errors in the sperm, ovum, and zygote to early reproductive loss. The reader is then introduced to cytogenetic abnormalities in spontaneous abortions of recognized conceptions; repetitive spontaneous abortion; and prenatal genetic diagnosis by chorionic villus sampling. Subsequent chapters explore prenatal treatment of biochemical disorders; in vitro fertilization and embryo transfer; and moral issues concerning third trimester pregnancy terminations. This monograph will appeal to perinatologists, neonatologists, obstetricians, pediatricians, and geneticists and should also serve as a useful guide for health professionals who provide care to pregnant women and their newborns.

Inhalt

Front Cover 1
Perinatal Genetics: Diagnosis and Treatment 4
Copyright Page 5
Table of Contents 6
Preface 10
Acknowledgements 12
SECTION I: PREGNANCY LOSS 14
CHAPTER 1. VERY EARLY PREGNANCY: FERTILIZATION AND IMPLANTATION FREQUENCY AND CAUSE OF LOSS 16
INTRODUCTION 16
THE PROBABILITY OF FERTILIZATION 17
THE FREQUENCY OF REPRODUCTIVE LOSS 23
EXPECTATIONS OF SURVIVAL AND LOSS AT EACH STAGE OF GESTATION 26
THE CONTRIBUTION OF ANEUPLOID* ANOMALIES TO EARLY LOSS 26
CONCLUSION 33
REFERENCES 33
CHAPTER 2. CYTOGENETIC ABNORMALITIES IN SPONTANEOUS ABORTIONS OF RECOGNIZED CONCEPTIONS 36
REFERENCES 52
CHAPTER 3. REPETITIVE SPONTANEOUS ABORTION 54
I. RECURRENCE RISKS 54
III. CAUSES OF REPETITIVE ABORTIONS 56
IV. RECOMMENDED CLINICAL EVALUATION 74
REFERENCES 75
SECTION II: PRENATAL DIAGNOSIS (Including Chorion Villus Sampling) 84
CHAPTER 4. PRENATAL DIAGNOSIS OF THE FRAGILE X SYNDROME 86
PRENATAL DIAGNOSIS OF THE FRAGILE X SYNDROME 86
METHODS 87
RESULTS 87
FAMILY HISTORY OF FRA (X) SYNDROME 88
REFERENCES 90
CHAPTER 5. PRENATAL DIAGNOSIS AND CARRIER DETECTION OF CLASSICAL PHENYLKETONURIA 92
SUMMARY 92
ACKNOWLEDGEMENT 105
REFERENCES 105
CHAPTER 6. PRENATAL GENETIC DIAGNOSIS BYCHORIONIC VILLUS SAMPLING 108
INTRODUCTION 108
I. History of Chorionic Villus Sampling (CVS) 108
II. Sampling Procedure 110
III. Cytogenetic Methods 115
IV. Biochemical Methods 118
V. Results 118
VI. Discussion 120
REFERENCES 124
SECTION III: PRENATAL MANAGEMENT AND TREATMENT 128
CHAPTER 7. PRENATAL TREATMENT OF BIOCHEMICAL DISORDERS 130
Antenatal Therapy for Metabolic Disorders 130
Methylmalonic Acidemia (MMA) 131
Multiple Carboxylase Deficiency 131
Abnormalities of Mineral Metabolism 132
Galactosemia 133
Congential Adrenal Hyperplasia (CAH) 133
Miscellany and Speculation 134
REFERENCES 135
CHAPTER 8. FETAL SURGERY, OLD CONTROVERSIES ABOUT NEW THERAPIES 138
INTRODUCTION 138
FETAL TRANSFUSIONS 138
CURRENT PROBLEMS 139
WHERE DO WE GO FROM HERE 141
REFERENCES 143
CHAPTER 9. DIAGNOSIS AND MANAGEMENT OF AMBIGUOUS GENITALIA IN THE NEWBORN 146
NORMAL SEXUAL DEVELOPMENT 146
FEMALE PSEUDOHERMAPHRODITISM 149
MALE PSEUDOHERMAPHRODITISM 157
DISORDERS OF TESTOSTERONE BIOSYNTHESIS 157
DISORDERS OF TESTOSTERONE METABOLISM 160
OTHER UNCLASSIFIED FORMS OF MALE PSEUDOHERMAPHRODITISM 162
MANAGEMENT OF THE PATIENT WITH AMBIGUOUS GENITALIA 162
REFERENCES 167
CHAPTER 10. CURRENT PERSPECTIVES ONFETAL HYDROCEPHALUS 172
DIAGNOSIS 172
OUTCOME 175
MANAGEMENT 178
REFERENCES 181
SECTION IV: IN VITRO FERTILIZATION AND SEX DETERMINATION 184
CHAPTER 11. IN VITRO FERTILIZATION AND EMBRYO TRANSFER 186
RECRUITMENT AND SELECTION OF THE DOMINANT FOLLICLE 187
STIMULATION OF THE OVARIAN/MENSTRUAL CYCLE 190
REFERENCES 192
CHAPTER 12. H-Y ANTIGEN, SEX DETERMINATION AND GENDER CONTROL 194
A. INTRODUCTION 194
B. H-Y AND THE TESTIS 195
C. ABNORMALITIES OF SEX DETERMINATION 197
D. NEW TECHNIQUES IN THE STUDY OF SEX DETERMINATION 201
E. H-Y IN THE CONTROL OF SEX RATIO 205
REFERENCES 208
SECTION V: MISCELLANEOUS 212
CHAPTER 13. ENVIRONMENTAL FACTORS AND HUMAN BIRTH DEFECTS: INTERPRETATION OF RELATIVE RISKS IN CLINICAL GENETICS 214
ADDENDUM-JANUARY 1986 229
ACKNOWLEDGEMENTS 229
REFERENCES 229
CHAPTER 14. RESULTS OF NEW YORK STATE NEWBORN HYPOTHYROIDISM SCREENING PROGRAM 232
INTRODUCTION 232
TESTING AND REPORTING PROCEDURES 233
NEWBORN HYPOTHYROIDISM SCREENING STATISTICS 238
SUMMARY OF RESULTS OF NEW YORK STATE NEWBORN HYPOTHYROIDISM SCREENING PROGRAM 245
ACKNOWLEDGEMENTS 252
REFERENCES 252
CHAPTER 15. PATERNAL AGE AND GENETIC OUTCOME: IMPLICATIONS FOR GENETIC COUNSELING 256
INTRODUCTION 256
METHODOLOGICAL ISSUES 257
NUMERICAL CHROMOSOME DISORDERS 258
STRUCTURAL CHROMOSOME ABNORMALITIES 264
SPECIFIC LOCUS MUTATION 268
REPRODUCTIVE OUTCOMES OF COMPLEX ETIOLOGY AND UNDEFINED GENETIC CONTRIBUTION 279
OTHER MANIFESTATIONS 282
CONCLUSION 282
REFERENCES 283
SECTION VI: ETHICAL ISSUES 288
CHAPTER 16. PEDIGREES OR CATALOGS? 290
I. Artifical Insemination by Donor 290
II. In Vitro Fertilization 291
III. Embryo Freezing 292
IV. Embryo Selling 294
V. Parental Identification 294
VI. Conclusion 295
REFERENCES 295
CHAPTER 17. WHEN ARE THIRD TRIMESTER PREGNANCY TERMINATIONS MORALLY JUSTIFIABLE? 296
ABSTRACT 296
INTRODUCTION 297
MATERIALS AND METHODS 297
RESULTS 298
DISCUSSION 298
REFERENCES 303
ABSTRACTS 306
PRENATAL VITAMIN B12 TREATMENT OF A FETUS AT RISK FOR METHYLCOBALAMIN DEFICIENCY 308
MULTIPLE PREGNANCY LOSSES AND PARENTAL KARYOTYPES 310
PERINATAL PSYCHOLOGICAL CRISIS INTERVENTION IN A MEDICAL GENETICS SETTING 312
RECEPTIVITY OF PREGNANT WOMEN IDENTIFIED AS CARRIERS FOR HEMOGLOBINOPATHIES TO GENETICS INFORMATION AND PRENATAL DIAGNOSIS 314
Index 316

Produkt-Details

• Erscheint lt. Verlag: 3.9.2013
• Sprache: englisch
• Themenwelt: Medizin / Pharmazie ► Medizinische Fachgebiete ► Gynäkologie / Geburtshilfe
• Themenwelt: Naturwissenschaften ► Biologie ► Ökologie / Naturschutz
• Themenwelt: Naturwissenschaften ► Geowissenschaften
• Themenwelt: Technik ► Umwelttechnik / Biotechnologie
• ISBN-10: 1-4832-6448-3 / 1483264483
• ISBN-13: 978-1-4832-6448-6 / 9781483264486