First Trimester Fetal Diagnosis

ISBN-13: 9783540157854 / Angielski / Miękka / 1985 / 356 str.

Marco Fraccaro; Giuseppe Simoni; Bruno Brambati

Opis

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 cel

Spis treści

Long-term Follow-up Results After Aspiration of Chorionic Villi During Early Pregnancy.- Chorionic Villi Sampling: General Methodological and Clinical Approach.- Chorionic Villi Sampling in a High-Risk Population Using the Portex Cannula.- Technical Aspects of Chorionic Villi Sampling in First Trimester Fetal Diagnosis.- Single-Operator Aspiration of Chorionic Villi Using an Ultrasound-Guided Silver Cannula.- Chorionic Villi Sampling Using Rigid Forceps Under Ultrasound Control.- Direct Vision Technique for Chorionic Villi Sampling in 100 Diagnostic Cases.- Transabdominal Chorionic Villi Sampling for First Trimester Fetal Diagnosis.- Chorionic Villi Sampling by Means of a New Endoscopic Device.- A Modified Portex Cannula for Chorionic Villi Sampling.- Improved Echogenicity of the Catheter for Chorionic Villi Sampling.- Optimal Timing of Chorionic Biopsy and its Application in the Second Trimester of Pregnancy.- Microbiology of the Endocervix in Patients Undergoing Chorionic Villi Sampling.- Fetoplacental Products as a Prognostic Guide Following Chorionic Villi Sampling.- Ultrasonic Observation of Pregnancy During the First Trimester Using a Vaginal Approach.- New Sonographic Criteria in Monitoring the First Trimester of Pregnancy.- Cytogenetics of Chorionic Villi Sampling: Technical Developments and Diagnostic Applications.- Cytogenetic Findings in First Trimester Chorionic Villi Biopsies: A Collaborative Study.- Results of 180 First Trimester Direct Chromosome Studies in Chorionic Villi.- Mosaicism Confined to Chorionic Tissue in Human Gestations.- Discordance Between Prenatal Cytogenetic Diagnosis after Chorionic Villi Sampling and Chromosomal Constitution of the Fetus.- Mixed Karyotypes Obtained by Chorionic Villi Analysis: Mosaicism and Maternal Contamination.- Culturing Trophoblast Samples.- Choice of Medium for Cultivation and 24-Hour Incubation of Chorionic Villi: Selective Effects in Vitro.- Histologic Study of Tritiated Thymidine Incorporation by Trophoblastic Villi in the First Trimester.- Cytoskeletal and Lectin Markers for Cells Cultured from Chorionic Villi and Decidua.- Histomorphological Aspects of Chorionic Villi in First Trimester Fetal Diagnosis.- Chromosome Analysis of First Trimester Chorionic Villi Sampled by Chorionscope.- Effect of Incubation Time and Serum Concentration on the Number of Mitoses in Aspirated Villi Samples.- Freezing of Chorionic Villi.- Modified Method for Cytogenetic Studies on Uncultured Chorionic Villi.- G-Banding of Chromosomes from Chorionic Villi.- Biochemical Analysis of Chorionic Villi: A Worldwide Survey of First Trimester Fetal Diagnosis of Inborn Errors of Metabolism.- First Trimester Fetal Diagnosis: Principles and Potential Pitfalls in Enzymatic and Molecular Diagnoses.- First Trimester Prenatal Diagnosis of Metabolic Diseases.- Comparison of the Activities of 15 Lysosomal Enzymes in Chorionic Villi and in Cultured Amniotic Fluid Cells.- Activity of 30 Nonlysosomal Enzymes in Chorionic Villi.- Gene Dosage Effect in Chorionic Villi.- Prenatal Diagnosis of Menkes’ Syndrome by Direct Copper Analysis of Trophoblastic Tissue.- First Trimester Diagnosis in a Twin Pregnancy in Which the Mother is a Proven Carrier of the X-Linked Disorder Menkes’ Syndrome.- Chorionic Biopsy in the Prenatal Diagnosis of Nephropathic Cystinosis.- Feasibility of First Trimester Diagnosis of ?-Thalassaemia Using DNA Posymorphisms in the Cypriot Population.- Prenatal Diagnosis of ?-Thalassemia by the Analysis of Trophoblast DNA with the Synthetic Oligomer Technique.- DNA Polymorphism Analysis in the Italian Population and Prenatal Diagnosis of Thalassemia.- First Trimester Diagnosis of Genetic Diseases by DNA Analysis of Chorionic Villi: Preliminary Experience.- DNA Polymorphisms and Fetal Sexing for X-Linked Disorders with Chorionic Biopsy.- Maternal Cell Contamination of Chorionic Villi Biopsy in a Pregnancy at Risk for Duchenne’s Muscular Dystrophy.- Pathology of Chromosome Abnormalities in First Trimester Embryos.- Assessment of the Safety and Accuracy of Chorionic Villi Sampling in First Trimester Fetal Diagnosis.- Methodological Problems in Determining Fetal Loss Rates: Relevance to Chorionic Villi Sampling.- Chorionic Villi Sampling: The McGill Randomized Clinical Trial of Safety and Accuracy.- Social Aspects of First Trimester Diagnosis.- Index of Authors.