Antenatal and neonatal screening:
Gespeichert in:
| Format: | Buch |
|---|---|
| Sprache: | English |
| Veröffentlicht: |
Oxford [u.a.]
Oxford Univ. Press
2000
|
| Ausgabe: | 2. ed. |
| Schlagworte: | |
| Online-Zugang: | Inhaltsverzeichnis |
| Beschreibung: | XXII, 591 S. Ill., graph. Darst. |
| ISBN: | 0192628267 |
Internformat
MARC
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| 245 | 1 | 0 | |a Antenatal and neonatal screening |c ed. by Nicholas Wald ... |
| 250 | |a 2. ed. | ||
| 264 | 1 | |a Oxford [u.a.] |b Oxford Univ. Press |c 2000 | |
| 300 | |a XXII, 591 S. |b Ill., graph. Darst. | ||
| 336 | |b txt |2 rdacontent | ||
| 337 | |b n |2 rdamedia | ||
| 338 | |b nc |2 rdacarrier | ||
| 650 | 7 | |a Pasgeborenen |2 gtt | |
| 650 | 7 | |a Prenatale diagnose |2 gtt | |
| 650 | 7 | |a Screening |2 gtt | |
| 650 | 4 | |a Genetic Markers | |
| 650 | 4 | |a Neonatal Screening | |
| 650 | 4 | |a Newborn infants |x Diseases |x Diagnosis | |
| 650 | 4 | |a Pregnancy Complications |x diagnosis | |
| 650 | 4 | |a Pregnancy |x Complications |x Diagnosis | |
| 650 | 4 | |a Prenatal Diagnosis | |
| 650 | 4 | |a Prenatal diagnosis | |
| 700 | 1 | |a Wald, Nicholas J. |e Sonstige |4 oth | |
| 856 | 4 | 2 | |m HBZ Datenaustausch |q application/pdf |u http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=009356010&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |3 Inhaltsverzeichnis |
| 999 | |a oai:aleph.bib-bvb.de:BVB01-009356010 | ||
Datensatz im Suchindex
| _version_ | 1804128505872515072 |
|---|---|
| adam_text | Contents
Foreword ix
Sir Richard Doll
Preface to the second edition xi
Preface to the first edition xiii
List of Contributors xvii
Part I: Principles of screening i
• 1 Tests using single markers 3
Howard S. Cuckle and Nicholas Wald
Introduction 3
The disorder 4
The screening test 7
Subsequent screening and diagnostic tests 16
Monitoring 17
Costs and benefits 19
Conclusion 19
Appendix 1: Estimating the detection and false positive rates for
fitted known frequency distributions 19
Appendix 2: Estimating the odds of being affected for an individual
with a particular test result 20
Appendix 3: Estimating the effect of repeat testing 21
References 22
¦/ 2 Tests using multiple markers 23
Nicholas Wald and Allan Hackshaw
Introduction 23
Multivariate screening: principles of combining simultaneous
measurements 23
Defining the starting risk in screening using multiple markers 28
Estimating detection rates and false positive rates using antenatal
screening for Down s syndrome as an example 28
Alternative methods of estimating risk and determining detection and
false positive rates 34
Advantages and disadvantages of the multivariate Gaussian model
and logistic regression as methods of risk estimation 37
Using the Gaussian model and observed data to estimate detection
and false positive rates 37
Handling of data 38
iv Contents
Conclusion 49
Appendix 1: The multivariate Gaussian distribution: calculating a
likelihood ratio 50
Appendix 2: Degree of separation between two distributions 55
Appendix 3: Confidence interval on an estimate of risk 56
References 57
Part II: Screening for specific disorders 59
(a) Antenatal screening 59
3 Neural tube defects 61
Nicholas Wald
Introduction 61
The disorder 61
Screening and diagnosis 64
Conclusions 78
References 80
4 Down s syndrome 85
Nicholas Wald
Introduction 85
The disorder 85
Screening tests 88
The organization of screening services 106
Conclusions 107
Acknowledgements 108
References 108
5 X linked disorders 116
Sarah Bundey
Introduction 116
Duchenne muscular dystrophy (DMD) 119
Fragile X syndrome 124
X linked retinitis pigmentosa 132
General points on screening for X linked disorders 134
References 136
6 Tay Sachs disease 139
Feige Kaplan and Charles R. Scriver
Introduction 139
The disorder 139
Screening 142
Diagnosis 147
Screening programmes in practice 148
Conclusion 150
Acknowledgements 151
References 151
7 Infections 159
Catherine S. Peckham and Marie Louise Newell
Introduction ^9
Rubella ^1
Syphilis 163
Contents v
Human immunodeficiency virus 166
Hepatitis B virus 16g
Cytomegalovirus 172
Toxoplasmosis 175
Herpes simplex virus 178
Chlamydia 180
Group B streptococcal infection 182
Conclusion 184
References 187
8 Disorders associated with hyperglycaemia in pregnancy 195
R J. Jarrett
Introduction 195
Maternal and fetal disorders associated with hyperglycaemia 196
Possible screening 197
Conclusion 199
References 199
9 Disorders associated with high blood pressure 201
Michael de Swiet and Ian Leek
Introduction 201
High blood pressure during pregnancy and its complications 201
Screening tests 209
Management of high blood pressure in pregnancy 215
Conclusions 216
Appendix 1: Some definitions used in the classification of high blood
pressure in pregnancy 218
Appendix 2: Derivation of various numbers in Fig. 16.4 219
References 220
10 Acquired haematological disorders 225
Elizabeth A. Letsky and Sir David Weatherall
Introduction 225
Iron deficiency of pregnancy 226
Thrombocytopenia during pregnancy and in the newborn 232
References 236
(b) Antenatal and neonatal screening 241
11 Genetic haematological disorders 243
Sir David Weatherall and Elizabeth A. Letsky
Introduction 243
Antenatal screening for genetic disorders of haemoglobin 243
Methods for antenatal diagnosis of haematological disorders 261
Overall results of screening and antenatal diagnosis for haematological
disorders 269
Strategy for screening and antenatal diagnosis programmes 271
Neonatal screening 273
Screening for haemoglobin disorders associated with mental
retardation 275
Acknowledgements 276
References 276
vi Contents
12 Rhesus and other haemolytic diseases 282
Elizabeth A. Let sky, Ian Leek and John M. Bowman
Introduction 282
The disorder 282
Control measures 290
Screening 293
Diagnosis and assessment 295
Organization 302
Conclusion 305
Appendix 1: Laboratory methods 308
Appendix 2: Statistical methods 313
References 320
13 Cystic fibrosis 325
David J. H. Brock
Introduction 325
The disorder 325
Screening and diagnosis 328
References 346
(c) Neonatal screening 351
/ 14 Phenylketonuria and other inherited metabolic defects 353
George C. Cunningham
Introduction 353
Phenylketonuria: the disorder 353
Screening 356
Diagnosis 360
Summary of neonatal screening and diagnosis 361
Treatment 362
Costs 363
Other metabolic disorders 364
References 365
15 Congenital hypothy raid ism 370
Joseph G. Hollowell, Bradford L. Therrell and W. Harry Hannon
Introduction 370
The disorder 370
Screening tests 374
Diagnostic tests 382
Treatment 385
Cost analysis 386
Other aspects 387
Conclusions 388
Research questions 388
Acknowledgements 389
References 389
16 Congenital dislocation of the hip 398
Ian Leek
Introduction 398
The disorder 399
Screening tests 401
Neonatal treatment 411
Contents vii
Effectiveness of screening and neonatal treatment 412
Financial costs and savings of neonatal screening and treatment 414
Conclusion 415
References 417
Part III: Certain procedures used in screening programmes 425
17 Ultrasound as an ancillary investigation in the management of pregnancy 427
Amy B. Levine and Charles J. Lockwood
Introduction 427
Establishment of gestational age 427
Placenta praevia 430
Intrauterine growth retardation (IUGR) 431
Multiple gestation 433
Conclusions 436
References 437
18 Ultrasound scanning for congenital abnormalities 441
Nicholas Wald, Anne Kennard, Alan Donnenfeld and Ian Leek
Introduction 441
Ultrasound as a diagnostic test 443
Ultrasound as a screening test 453
Abnormalities to be included in an ultrasound anomaly scan 461
Conclusion 462
References 464
19 Amniocentesis and chorionic villus sampling 470
Christine Gosden, Ann Tabor, Ian Leek, Adrian Grant, Zarko Alfirevic
and Nicholas Wald
Introduction 470
Sampling and culturing procedures 470
Examination of cells 476
Performance 481
Policy implications 507
Conclusion 509
References 510
20 Fetal blood and tissue sampling 517
Pauline A. Hurley and Charles H. Rodeck
Introduction 517
Fetal blood sampling 517
Sampling from fetal tissues other than blood 522
Conclusion 524
References 524
21 Continuous electronic fetal monitoring during labour 528
Ian Leek and Stephen B. Thacker
Introduction 528
Adverse outcomes of hypoxia during labour 528
The screening test 529
Conclusions 537
References 538
viii Contents
Part IV: Wider issues 541
22 Ethics of antenatal and neonatal screening 543
Nicholas Wald, Ian Leek and J. A. Muir Gray
Introduction 543
Benefits and hazards 543
Choices 544
Information 546
Counselling 547
After care 548
Equity 548
Community perspectives 550
Appendix: an information leaflet for pregnant women 552
Y 23 Conclusions 556
Nicholas Wald and Ian Leek
Summary of antenatal and neonatal screening for certain disorders 556
Screening as a method of reducing late fetal and infant mortality 562
Screening as a method of reducing childhood handicap 564
Taking stock 565
References 567
Glossary of terms 569
Index 575
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| indexdate | 2024-07-09T18:50:19Z |
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| language | English |
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| physical | XXII, 591 S. Ill., graph. Darst. |
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| spelling | Antenatal and neonatal screening ed. by Nicholas Wald ... 2. ed. Oxford [u.a.] Oxford Univ. Press 2000 XXII, 591 S. Ill., graph. Darst. txt rdacontent n rdamedia nc rdacarrier Pasgeborenen gtt Prenatale diagnose gtt Screening gtt Genetic Markers Neonatal Screening Newborn infants Diseases Diagnosis Pregnancy Complications diagnosis Pregnancy Complications Diagnosis Prenatal Diagnosis Prenatal diagnosis Wald, Nicholas J. Sonstige oth HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=009356010&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Antenatal and neonatal screening Pasgeborenen gtt Prenatale diagnose gtt Screening gtt Genetic Markers Neonatal Screening Newborn infants Diseases Diagnosis Pregnancy Complications diagnosis Pregnancy Complications Diagnosis Prenatal Diagnosis Prenatal diagnosis |
| title | Antenatal and neonatal screening |
| title_auth | Antenatal and neonatal screening |
| title_exact_search | Antenatal and neonatal screening |
| title_full | Antenatal and neonatal screening ed. by Nicholas Wald ... |
| title_fullStr | Antenatal and neonatal screening ed. by Nicholas Wald ... |
| title_full_unstemmed | Antenatal and neonatal screening ed. by Nicholas Wald ... |
| title_short | Antenatal and neonatal screening |
| title_sort | antenatal and neonatal screening |
| topic | Pasgeborenen gtt Prenatale diagnose gtt Screening gtt Genetic Markers Neonatal Screening Newborn infants Diseases Diagnosis Pregnancy Complications diagnosis Pregnancy Complications Diagnosis Prenatal Diagnosis Prenatal diagnosis |
| topic_facet | Pasgeborenen Prenatale diagnose Screening Genetic Markers Neonatal Screening Newborn infants Diseases Diagnosis Pregnancy Complications diagnosis Pregnancy Complications Diagnosis Prenatal Diagnosis Prenatal diagnosis |
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