First Trimester Fetal Diagnosis

Front Matter....Pages I-IX
Long-term Follow-up Results After Aspiration of Chorionic Villi During Early Pregnancy....Pages 1-6
Chorionic Villi Sampling: General Methodological and Clinical Approach....Pages 7-18
Chorionic Villi Sampling in a High-Risk Population Using the Portex Cannula....Pages 19-24
Technical Aspects of Chorionic Villi Sampling in First Trimester Fetal Diagnosis....Pages 25-31
Single-Operator Aspiration of Chorionic Villi Using an Ultrasound-Guided Silver Cannula....Pages 32-37
Chorionic Villi Sampling Using Rigid Forceps Under Ultrasound Control....Pages 38-45
Direct Vision Technique for Chorionic Villi Sampling in 100 Diagnostic Cases....Pages 46-50
Transabdominal Chorionic Villi Sampling for First Trimester Fetal Diagnosis....Pages 51-53
Chorionic Villi Sampling by Means of a New Endoscopic Device....Pages 54-59
A Modified Portex Cannula for Chorionic Villi Sampling....Pages 60-62
Improved Echogenicity of the Catheter for Chorionic Villi Sampling....Pages 63-64
Optimal Timing of Chorionic Biopsy and its Application in the Second Trimester of Pregnancy....Pages 65-68
Microbiology of the Endocervix in Patients Undergoing Chorionic Villi Sampling....Pages 69-73
Fetoplacental Products as a Prognostic Guide Following Chorionic Villi Sampling....Pages 74-77
Ultrasonic Observation of Pregnancy During the First Trimester Using a Vaginal Approach....Pages 78-91
New Sonographic Criteria in Monitoring the First Trimester of Pregnancy....Pages 92-98
Cytogenetics of Chorionic Villi Sampling: Technical Developments and Diagnostic Applications....Pages 99-108
Cytogenetic Findings in First Trimester Chorionic Villi Biopsies: A Collaborative Study....Pages 109-120
Results of 180 First Trimester Direct Chromosome Studies in Chorionic Villi....Pages 121-129
Mosaicism Confined to Chorionic Tissue in Human Gestations....Pages 130-136
Discordance Between Prenatal Cytogenetic Diagnosis after Chorionic Villi Sampling and Chromosomal Constitution of the Fetus....Pages 137-143
Mixed Karyotypes Obtained by Chorionic Villi Analysis: Mosaicism and Maternal Contamination....Pages 144-146
Culturing Trophoblast Samples....Pages 147-156
Choice of Medium for Cultivation and 24-Hour Incubation of Chorionic Villi: Selective Effects in Vitro....Pages 157-160
Histologie Study of Tritiated Thymidine Incorporation by Trophoblastic Villi in the First Trimester....Pages 161-163
Cytoskeletal and Lectin Markers for Cells Cultured from Chorionic Villi and Decidua....Pages 164-177
Histomorphological Aspects of Chorionic Villi in First Trimester Fetal Diagnosis....Pages 178-188
Chromosome Analysis of First Trimester Chorionic Villi Sampled by Chorionscope....Pages 189-196
Effect of Incubation Time and Serum Concentration on the Number of Mitoses in Aspirated Villi Samples....Pages 197-200
Freezing of Chorionic Villi....Pages 201-204
Modified Method for Cytogenetic Studies on Uncultured Chorionic Villi....Pages 205-206
G-Banding of Chromosomes from Chorionic Villi....Pages 207-208
Biochemical Analysis of Chorionic Villi: A Worldwide Survey of First Trimester Fetal Diagnosis of Inborn Errors of Metabolism....Pages 209-217
First Trimester Fetal Diagnosis: Principles and Potential Pitfalls in Enzymatic and Molecular Diagnoses....Pages 218-234
First Trimester Prenatal Diagnosis of Metabolic Diseases....Pages 235-237
Comparison of the Activities of 15 Lysosomal Enzymes in Chorionic Villi and in Cultured Amniotic Fluid Cells....Pages 238-241
Activity of 30 Nonlysosomal Enzymes in Chorionic Villi....Pages 242-245
Gene Dosage Effect in Chorionic Villi....Pages 246-250
Prenatal Diagnosis of Menkes’ Syndrome by Direct Copper Analysis of Trophoblastic Tissue....Pages 251-255
First Trimester Diagnosis in a Twin Pregnancy in Which the Mother is a Proven Carrier of the X-Linked Disorder Menkes’ Syndrome....Pages 256-259
Chorionic Biopsy in the Prenatal Diagnosis of Nephropathic Cystinosis....Pages 260-262
Feasibility of First Trimester Diagnosis of β -Thalassaemia Using DNA Polymorphisms in the Cypriot Population....Pages 263-270
Prenatal Diagnosis of β-Thalassemia by the Analysis of Trophoblast DNA with the Synthetic Oligomer Technique....Pages 271-275
DNA Polymorphism Analysis in the Italian Population and Prenatal Diagnosis of Thalassemia....Pages 276-282
First Trimester Diagnosis of Genetic Diseases by DNA Analysis of Chorionic Villi: Preliminary Experience....Pages 283-285
DNA Polymorphisms and Fetal Sexing for X-Linked Disorders with Chorionic Biopsy....Pages 286-294
Maternal Cell Contamination of Chorionic Villi Biopsy in a Pregnancy at Risk for Duchenne’s Muscular Dystrophy....Pages 295-299
Pathology of Chromosome Abnormalities in First Trimester Embryos....Pages 300-313
Assessment of the Safety and Accuracy of Chorionic Villi Sampling in First Trimester Fetal Diagnosis....Pages 314-320
Methodological Problems in Determining Fetal Loss Rates: Relevance to Chorionic Villi Sampling....Pages 321-333
Chorionic Villi Sampling: The McGill Randomized Clinical Trial of Safety and Accuracy....Pages 334-340
Social Aspects of First Trimester Diagnosis....Pages 341-351
Back Matter....Pages 353-355