| Foreword |
|
v | |
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| Preface |
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vii | |
| Contributors |
|
xix | |
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SECTION I: PRENATAL SCREENING |
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First Trimester Serum Screening |
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1 | (20) |
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1 | (3) |
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4 | (2) |
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Pregnancy-Associated Plasma Protein A |
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6 | (1) |
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Combined Modeled Detection Rates |
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6 | (2) |
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Modeled and Achievable Performance in Studies of Maternal Serum Biochemistry with NT |
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8 | (1) |
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Sample Collection Conditions |
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8 | (1) |
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9 | (4) |
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Detection Rate and False-Positive Rate by Maternal Age |
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13 | (1) |
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14 | (1) |
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Potential Future Developments |
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14 | (1) |
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15 | (6) |
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Maternal Serum Screening for Down Syndrome |
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21 | (12) |
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21 | (1) |
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22 | (1) |
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Mathematical Basis of the Calculation of Down Syndrome Risk |
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22 | (2) |
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Factors Affecting MSM Levels |
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24 | (1) |
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Factors Influencing Risk Calculation |
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25 | (1) |
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Serum Markers and Screening for Other Anomalies |
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26 | (1) |
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Quality Control and Screening Policies |
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26 | (1) |
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The Example of a National Screening Policy |
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27 | (1) |
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Second-Trimester MSM Results |
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27 | (1) |
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Current Problems in Down Syndrome Screening |
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28 | (1) |
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29 | (1) |
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30 | (3) |
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Nuchal Translucency Screening |
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33 | (22) |
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33 | (1) |
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34 | (1) |
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34 | (6) |
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Increased NT in Chromosomally Normal Pregnancies |
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40 | (1) |
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Increased NT and Pregnancy Outcome |
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40 | (1) |
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Increased NT and Cardiac Defects |
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41 | (6) |
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47 | (1) |
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47 | (8) |
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Nasal Bone in Screening for Trisomy 21 |
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55 | (12) |
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Development of the Nasal Bones |
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55 | (1) |
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Radiologic Evidence of Nasal Hypoplasia in Trisomy 21 |
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55 | (1) |
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Ultrasound Evidence of Nasal Hypoplasia in Trisomy 21 |
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56 | (4) |
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Examination of the Nasal Bone in Screening for Trisomy 21 |
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60 | (3) |
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63 | (4) |
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Screening for Neural Tube Defects: Ultrasound and Serum Markers |
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67 | (12) |
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67 | (1) |
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67 | (2) |
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Alpha-Fetoprotein and Fetal NTDs |
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69 | (4) |
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Ultrasonography to Detect Fetal NTDs |
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73 | (3) |
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76 | (1) |
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76 | (3) |
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Antenatal Screening for Down Syndrome Using the Integrated Test |
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79 | (24) |
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79 | (1) |
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80 | (1) |
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Estimation of Screening Performance |
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80 | (6) |
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Screening Performance of the Integrated Test Compared with Other Tests |
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86 | (4) |
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90 | (1) |
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Sequential Screening Policies |
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91 | (1) |
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Possible Improvements in Screening Performance with the Addition of an Ultrasound Fetal Nasal Bone Examination |
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92 | (1) |
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The Integrated Test in Twin Pregnancies |
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93 | (1) |
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Results from Other Studies |
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93 | (1) |
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Standardizing Screening Performance to About 17 Weeks of Pregnancy |
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94 | (1) |
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Implementation of the Integrated Test |
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95 | (1) |
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96 | (2) |
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98 | (1) |
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99 | (2) |
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101 | (2) |
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Genetic Ultrasound Scan---Second Trimester |
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103 | (18) |
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103 | (1) |
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Trisomy 21 (Down Syndrome) |
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104 | (5) |
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Trisomy 18 (Edward Syndrome) |
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109 | (1) |
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Trisomy 13 (Patau Syndrome) |
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110 | (1) |
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111 | (2) |
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113 | (1) |
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113 | (8) |
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Fetal Cells in Maternal Blood: Diagnostic and Therapeutic Implications |
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121 | (16) |
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121 | (1) |
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Fetal Cells in Maternal Blood for Noninvasive Prenatal Diagnosis |
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122 | (6) |
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Fetal Cell Microchimerism |
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128 | (3) |
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131 | (1) |
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131 | (6) |
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Fetal DNA and mRNA in Maternal Plasma |
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137 | (18) |
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Fetal Nucleic Acids in Maternal Circulation |
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137 | (1) |
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138 | (9) |
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mRNA of Placental Origin in Maternal Plasma |
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147 | (2) |
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Possible Clinical Applications |
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149 | (1) |
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150 | (5) |
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Ethnic Population Screening |
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155 | (14) |
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156 | (8) |
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164 | (2) |
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166 | (3) |
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Pathophysiology of Increased Nuchal Translucency |
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169 | (20) |
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169 | (2) |
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171 | (1) |
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Cardiac Malformations and Dysfunction |
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171 | (4) |
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Alterations in the Extracellular Matrix |
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175 | (2) |
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Studies on Morphology of the Fetal Neck |
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177 | (3) |
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180 | (1) |
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181 | (1) |
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182 | (7) |
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SECTION II: PRENATAL DIAGNOSIS |
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Invasive Prenatal Diagnostic Techniques |
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189 | (16) |
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189 | (2) |
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191 | (1) |
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Chorionic Villus Sampling |
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192 | (3) |
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Percutaneous Umbilical Blood Sampling |
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195 | (3) |
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198 | (1) |
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199 | (6) |
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Prenatal Diagnosis of Multifetal Pregnancies |
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205 | (14) |
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205 | (1) |
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205 | (3) |
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208 | (3) |
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211 | (5) |
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216 | (1) |
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216 | (3) |
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Embryoscopy in the First Trimester of Pregnancy |
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219 | (18) |
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219 | (1) |
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Technique of Transcervical Embryoscopy in Cases of Early Spontaneous Abortions (Missed Abortions) |
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220 | (3) |
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Definitions Used in the Study of Abortions |
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223 | (1) |
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Common Morphological Defects in Early Abortion Specimens Diagnosed Embryoscopically |
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223 | (7) |
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Etiology of Developmental Defects in Early Missed Abortions |
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230 | (2) |
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Clinical Significance of a Detailed Morphological and Cytogenetic Evaluation of Early Spontaneous Abortion |
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232 | (1) |
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233 | (4) |
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Prenatal Diagnosis of Chromosome Abnormalities |
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237 | (36) |
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237 | (1) |
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Normal Chromosomes and Variants |
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238 | (1) |
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239 | (15) |
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254 | (2) |
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Chromosome Findings in the Various Indication Groups |
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256 | (4) |
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Problems of Interpretation of Results and Other Dilemmas |
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260 | (6) |
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266 | (7) |
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273 | (10) |
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273 | (1) |
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273 | (1) |
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The First Step: Confirming the Diagnosis |
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274 | (1) |
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The Second Step: Learning More About the Disease and Determining Whether Prenatal Diagnosis Is Possible |
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274 | (1) |
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The Third Step: When and How of Prenatal DNA Testing |
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274 | (1) |
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The Fourth Step: An Overview of DNA Analysis |
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275 | (2) |
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Prenatal DNA Diagnosis: Three Examples |
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277 | (4) |
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281 | (1) |
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281 | (2) |
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Preimplantation Genetic Diagnosis |
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283 | (34) |
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283 | (1) |
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284 | (1) |
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Preimplantation Diagnosis (PGD) and In Vitro Fertilization--Embryo Transfer |
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284 | (3) |
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287 | (2) |
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Problems with Single Cell Analysis |
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289 | (3) |
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292 | (1) |
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293 | (1) |
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294 | (9) |
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Infertility and Preimplantation Genetic Diagnosis |
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303 | (5) |
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308 | (1) |
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309 | (1) |
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309 | (8) |
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317 | (36) |
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317 | (3) |
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Fetal Structural Abnormalities |
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320 | (1) |
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Central Nervous System Abnormalities |
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320 | (6) |
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326 | (1) |
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Cardiovascular System Abnormalities |
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326 | (4) |
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330 | (2) |
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Abdominal and Abdominal Wall Abnormalities |
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332 | (1) |
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333 | (2) |
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Abdominal Wall Abnormalities |
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335 | (2) |
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Urinary Tract Abnormalities |
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337 | (4) |
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341 | (2) |
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343 | (4) |
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Abnormalities of the Placenta, Membranes, and Umbilical Cord |
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347 | (2) |
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349 | (4) |
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The Role of Three-Dimensional Ultrasound in Prenatal Diagnosis |
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353 | (16) |
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353 | (2) |
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Congenital Uterine Anomalies |
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355 | (2) |
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357 | (8) |
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365 | (1) |
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366 | (3) |
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Fetal Magnetic Resonance Imaging |
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369 | (16) |
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369 | (1) |
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Safety of MRI in Pregnancy |
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370 | (1) |
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Conditions Unique to Pregnancy that May Require MRI |
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370 | (2) |
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372 | (2) |
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374 | (6) |
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380 | (1) |
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380 | (5) |
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SECTION III: PRENATAL THERAPY |
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Prenatal Therapy---Prevention of Labor |
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385 | (14) |
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Etiology of Preterm Birth |
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385 | (1) |
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386 | (4) |
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390 | (4) |
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394 | (1) |
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394 | (5) |
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399 | (20) |
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399 | (1) |
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Prerequisites for Fetal Therapy |
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399 | (1) |
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Genetic Disorders Affecting the Fetus |
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400 | (5) |
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Medical Disorders of the Fetus |
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405 | (7) |
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412 | (1) |
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412 | (7) |
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Intrauterine Intravascular Treatment |
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419 | (12) |
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Phebe Nanine Adama van Scheltema |
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419 | (1) |
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When to Transfuse: Monitoring a Pregnancy at Risk |
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419 | (2) |
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421 | (3) |
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Top-Up vs. Exchange Transfusion |
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424 | (1) |
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Timing of Subsequent Transfusions |
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424 | (1) |
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424 | (1) |
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425 | (1) |
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425 | (1) |
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Transfusion in Other Diseases |
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426 | (1) |
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427 | (4) |
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431 | (16) |
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431 | (1) |
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Prevalence and Epidemiology |
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432 | (1) |
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Embryology and Pathogenesis |
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432 | (1) |
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Bowel Lesions, Inflammatory Process, and Amniotic Digestive Compounds in Gastroschisis |
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433 | (2) |
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435 | (1) |
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436 | (2) |
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Fetal Therapy: Amnioexchange and Amnioinfusion |
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438 | (1) |
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439 | (1) |
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439 | (1) |
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440 | (1) |
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440 | (7) |
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Twin-to-Twin Transfusion Syndrome |
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447 | (26) |
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Twins and Twins: Different Types of Twinning |
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447 | (2) |
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TTTS: When the Intertwin Transfusion Becomes Unbalanced |
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449 | (1) |
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Pathophysiology of TTTS: Vascular Anastomoses and Hemodynamic/Hormonal Factors |
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450 | (2) |
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Prediction of TTTS: Identification of the Monochorionic Twins at Highest Risk |
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452 | (3) |
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Staging of TTTS: Reflection of the Variable Presentations of TTTS and Outcome |
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455 | (1) |
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Treatment of TTTS: The Past, Present, and Future |
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456 | (10) |
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466 | (1) |
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467 | (6) |
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Fetoscopic Instrumentation and Techniques |
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473 | (20) |
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|
Dominique van Schoubroeck |
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473 | (1) |
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Instrumentation and Technique for Operative Fetoscopy |
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474 | (6) |
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``Obstetrical Endoscopy'': Fetoscopic Surgery on the Placenta, Cord, and Membranes |
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|
480 | (2) |
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Fetoscopic Cord Obliteration |
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482 | (3) |
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485 | (1) |
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Fetoscopic Surgery for Congenital Diaphragmatic Hernia |
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486 | (2) |
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488 | (5) |
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493 | (16) |
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493 | (1) |
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Perioperative Management of Fetal Surgical Patients |
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494 | (12) |
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Maternal Risks of Maternal--Fetal Surgery |
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506 | (1) |
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506 | (1) |
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507 | (2) |
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509 | (12) |
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509 | (1) |
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Methods of Abortion in the First Trimester |
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510 | (2) |
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Methods of Abortion in the Second Trimester |
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512 | (4) |
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The Choice of Abortion Method for Fetal Abnormalities |
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516 | (1) |
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517 | (1) |
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517 | (4) |
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521 | (14) |
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521 | (2) |
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523 | (1) |
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524 | (1) |
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525 | (4) |
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529 | (2) |
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531 | (1) |
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532 | (3) |
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535 | (30) |
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535 | (1) |
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535 | (4) |
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Vectors for Fetal Gene Therapy |
|
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539 | (6) |
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Application of Gene Therapy to the Fetus |
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545 | (1) |
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Fetal Gene Therapy Studies |
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|
546 | (8) |
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Stem Cell Fetal Gene Therapy |
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|
554 | (1) |
|
Ethical and Safety Issues |
|
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555 | (1) |
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556 | (1) |
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556 | (9) |
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SECTION IV: ETHICS AND LEGISLATION |
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|
|
Maternal/Fetal Conflict: A Legal and Ethical Conundrum |
|
|
565 | (10) |
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|
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|
|
565 | (1) |
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|
565 | (2) |
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567 | (1) |
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Cesarean Section/Blood Transfusion |
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567 | (2) |
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|
569 | (2) |
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571 | (1) |
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572 | (1) |
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573 | (2) |
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575 | (30) |
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575 | (1) |
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|
575 | (4) |
|
Preimplantation Genetic Diagnosis |
|
|
579 | (4) |
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|
|
583 | (12) |
|
|
|
595 | (2) |
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597 | (1) |
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|
|
597 | (8) |
| Index |
|
605 | |
