First trimester fetal diagnosis [an internat. symposium, Convento delle Clarisse, Rapallo, Italy, October 25 - 27, 1984

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 Of 646 cases involving first trimester chromosome analysis of chorionic villi sam ples obtained by trans cervical aspiration, we found 34 abnormal unbalanced karyo types. In six of these, fetal fibroblast cultures obtained after termination of the preg nancy failed to confirm the abnormality. Three cases were mosaics identified from direct preparations: 46,XY/45,X; 46,XX/47,XX, +3; and 46,XY/47,XY, +18. In two cases of trisomy 16 (46,XY/47,XY, +16; 46,XX/47,XX, +16) and one oftriso my18 (46,XX/47,XX, +18), no mosaicism was detected. In the other 28 cases with unbalanced abnormal karyotypes, there was karyotypic correspondence between villous cells at diagnosis and fetal fibroblasts. References 1. Benn P, Hsu L YF, Perlis T, Schonhaut A (1984): Prenatal diagnosis of chromosome mosaicism. Prenat Diagn 4: 1-9 2. Binkert F, Schmid W (1977) Pre-implantation embryos of Chinese hamster. I. Incidence ofkaryo type anomalies in 226 control embryos. Mutat Res 46: 63-76 3. Boue J, Nicolas H, Barichard F, Boue A (1979) Le clonage des cellules du liquide amniotique, aide dans l'interpretation des mosaiques chromosomiques en diagnostic prenatal. Ann Genet 22:3-9 4. Hahnemann N (1973) Chromosome studies in induced abortions. Clin Genet 4: 328-332 5. Kalousek DK, Dill FJ (1983) Chromosomal mosaicism confined to the placenta in human con ceptions. Science 221 : 665-667 6. Loft A, Tabor A (1984) Discordance between prenatal cytogenetic diagnosis and outcome of pregnancy. Prenat Diagn 4: 51-59 7. Markert CL, Petters RM (1978) Manufactured hexaparental mice show that adults are derived from three embryonic cells